Incidental Mutation 'R2209:Igflr1'
| ID |
239252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igflr1
|
| Ensembl Gene |
ENSMUSG00000036826 |
| Gene Name |
IGF-like family receptor 1 |
| Synonyms |
F630003I17Rik, Tmem149 |
| MMRRC Submission |
040211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2209 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30264852-30267387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30267222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 330
(I330N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006470]
[ENSMUST00000043273]
[ENSMUST00000043850]
[ENSMUST00000043898]
[ENSMUST00000108154]
[ENSMUST00000108161]
[ENSMUST00000163464]
[ENSMUST00000164365]
[ENSMUST00000163482]
[ENSMUST00000163654]
[ENSMUST00000163330]
[ENSMUST00000163276]
[ENSMUST00000163848]
[ENSMUST00000172251]
[ENSMUST00000208628]
[ENSMUST00000207797]
[ENSMUST00000207747]
[ENSMUST00000167361]
[ENSMUST00000166960]
[ENSMUST00000167202]
[ENSMUST00000207031]
[ENSMUST00000171912]
[ENSMUST00000167042]
[ENSMUST00000171850]
[ENSMUST00000168333]
[ENSMUST00000168555]
[ENSMUST00000168931]
[ENSMUST00000166257]
[ENSMUST00000166510]
[ENSMUST00000167501]
[ENSMUST00000168229]
|
| AlphaFold |
Q3U4N7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006470
|
| SMART Domains |
Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
18 |
30 |
2.82e2 |
SMART |
|
low complexity region
|
66 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
AT_hook
|
149 |
159 |
2.4e2 |
SMART |
|
AT_hook
|
218 |
230 |
1.95e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
302 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
413 |
N/A |
INTRINSIC |
|
AT_hook
|
476 |
488 |
5.47e-1 |
SMART |
|
low complexity region
|
501 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
922 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
963 |
1010 |
7.2e-15 |
PFAM |
|
low complexity region
|
1039 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1115 |
N/A |
INTRINSIC |
|
PHD
|
1209 |
1256 |
1.25e-5 |
SMART |
|
PHD
|
1257 |
1307 |
5.4e-10 |
SMART |
|
PHD
|
1343 |
1400 |
1.27e-6 |
SMART |
|
low complexity region
|
1415 |
1427 |
N/A |
INTRINSIC |
|
PHD
|
1646 |
1692 |
3.82e-1 |
SMART |
|
FYRN
|
1745 |
1788 |
3.25e-19 |
SMART |
|
low complexity region
|
1881 |
1899 |
N/A |
INTRINSIC |
|
low complexity region
|
1912 |
1942 |
N/A |
INTRINSIC |
|
low complexity region
|
1961 |
1978 |
N/A |
INTRINSIC |
|
low complexity region
|
1991 |
2003 |
N/A |
INTRINSIC |
|
low complexity region
|
2013 |
2026 |
N/A |
INTRINSIC |
|
low complexity region
|
2048 |
2061 |
N/A |
INTRINSIC |
|
low complexity region
|
2087 |
2105 |
N/A |
INTRINSIC |
|
low complexity region
|
2127 |
2138 |
N/A |
INTRINSIC |
|
low complexity region
|
2215 |
2235 |
N/A |
INTRINSIC |
|
low complexity region
|
2239 |
2270 |
N/A |
INTRINSIC |
|
low complexity region
|
2396 |
2406 |
N/A |
INTRINSIC |
|
FYRC
|
2419 |
2504 |
4.83e-36 |
SMART |
|
SET
|
2581 |
2703 |
1.67e-42 |
SMART |
|
PostSET
|
2705 |
2721 |
4.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043273
|
| SMART Domains |
Protein: ENSMUSP00000039406
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
175 |
2.49e-1 |
SMART |
|
low complexity region
|
187 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043850
AA Change: I310N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042312
Gene: ENSMUSG00000036826
AA Change: I310N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
166 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043898
|
| SMART Domains |
Protein: ENSMUSP00000044682
Gene: ENSMUSG00000036835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEN-2
|
7 |
99 |
2.9e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108154
|
| SMART Domains |
Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
18 |
30 |
2.82e2 |
SMART |
|
low complexity region
|
66 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
AT_hook
|
149 |
159 |
2.4e2 |
SMART |
|
AT_hook
|
218 |
230 |
1.95e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
302 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
413 |
N/A |
INTRINSIC |
|
AT_hook
|
476 |
488 |
5.47e-1 |
SMART |
|
low complexity region
|
501 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
922 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
963 |
1010 |
1e-14 |
PFAM |
|
low complexity region
|
1039 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1115 |
N/A |
INTRINSIC |
|
PHD
|
1209 |
1256 |
1.25e-5 |
SMART |
|
PHD
|
1257 |
1307 |
5.4e-10 |
SMART |
|
PHD
|
1343 |
1400 |
1.27e-6 |
SMART |
|
low complexity region
|
1415 |
1427 |
N/A |
INTRINSIC |
|
PHD
|
1646 |
1692 |
3.82e-1 |
SMART |
|
FYRN
|
1745 |
1788 |
3.25e-19 |
SMART |
|
low complexity region
|
1872 |
1890 |
N/A |
INTRINSIC |
|
low complexity region
|
1903 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1952 |
1969 |
N/A |
INTRINSIC |
|
low complexity region
|
1982 |
1994 |
N/A |
INTRINSIC |
|
low complexity region
|
2004 |
2017 |
N/A |
INTRINSIC |
|
low complexity region
|
2039 |
2052 |
N/A |
INTRINSIC |
|
low complexity region
|
2078 |
2096 |
N/A |
INTRINSIC |
|
low complexity region
|
2118 |
2129 |
N/A |
INTRINSIC |
|
low complexity region
|
2206 |
2226 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2261 |
N/A |
INTRINSIC |
|
low complexity region
|
2383 |
2398 |
N/A |
INTRINSIC |
|
FYRC
|
2411 |
2496 |
4.83e-36 |
SMART |
|
SET
|
2573 |
2695 |
1.67e-42 |
SMART |
|
PostSET
|
2697 |
2713 |
4.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108161
|
| SMART Domains |
Protein: ENSMUSP00000103796
Gene: ENSMUSG00000109378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
13 |
39 |
8.8e-10 |
PFAM |
|
SCOP:d1jmta_
|
43 |
115 |
2e-17 |
SMART |
|
PDB:1JMT|A
|
43 |
116 |
3e-40 |
PDB |
|
Blast:RRM
|
45 |
116 |
2e-36 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131002
|
| SMART Domains |
Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
214 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
255 |
302 |
5.2e-15 |
PFAM |
|
low complexity region
|
331 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
PHD
|
501 |
548 |
1.25e-5 |
SMART |
|
PHD
|
549 |
599 |
5.4e-10 |
SMART |
|
PHD
|
635 |
692 |
1.27e-6 |
SMART |
|
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
|
PHD
|
938 |
984 |
3.82e-1 |
SMART |
|
FYRN
|
1037 |
1080 |
3.25e-19 |
SMART |
|
low complexity region
|
1173 |
1191 |
N/A |
INTRINSIC |
|
low complexity region
|
1204 |
1234 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1295 |
N/A |
INTRINSIC |
|
low complexity region
|
1305 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1340 |
1353 |
N/A |
INTRINSIC |
|
low complexity region
|
1379 |
1397 |
N/A |
INTRINSIC |
|
low complexity region
|
1419 |
1430 |
N/A |
INTRINSIC |
|
low complexity region
|
1507 |
1527 |
N/A |
INTRINSIC |
|
low complexity region
|
1531 |
1562 |
N/A |
INTRINSIC |
|
low complexity region
|
1684 |
1699 |
N/A |
INTRINSIC |
|
FYRC
|
1712 |
1797 |
4.83e-36 |
SMART |
|
SET
|
1874 |
1996 |
1.67e-42 |
SMART |
|
PostSET
|
1998 |
2014 |
4.65e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163464
|
| SMART Domains |
Protein: ENSMUSP00000125959
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
171 |
3.95e1 |
SMART |
|
low complexity region
|
183 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163482
|
| SMART Domains |
Protein: ENSMUSP00000130649
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165722
|
| SMART Domains |
Protein: ENSMUSP00000125790
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
1 |
26 |
4.7e-10 |
PFAM |
|
PDB:1JMT|A
|
30 |
51 |
2e-6 |
PDB |
|
SCOP:d1jmta_
|
30 |
51 |
5e-3 |
SMART |
|
Blast:RRM
|
32 |
53 |
7e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163654
|
| SMART Domains |
Protein: ENSMUSP00000131048
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
13 |
39 |
1.3e-9 |
PFAM |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
low complexity region
|
167 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163330
|
| SMART Domains |
Protein: ENSMUSP00000129385
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
39 |
116 |
5.99e-4 |
SMART |
|
Pfam:zf-CCCH
|
122 |
148 |
4.9e-8 |
PFAM |
|
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163848
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172251
AA Change: I330N
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132400
Gene: ENSMUSG00000036826
AA Change: I330N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169962
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171364
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167024
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170453
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171912
|
| SMART Domains |
Protein: ENSMUSP00000130983
Gene: ENSMUSG00000109378
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
175 |
2.49e-1 |
SMART |
|
low complexity region
|
187 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167042
|
| SMART Domains |
Protein: ENSMUSP00000128886
Gene: ENSMUSG00000109378
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
175 |
2.49e-1 |
SMART |
|
low complexity region
|
187 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171850
|
| SMART Domains |
Protein: ENSMUSP00000131781
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
PDB:1JMT|A
|
43 |
113 |
1e-16 |
PDB |
|
SCOP:d1jmta_
|
43 |
113 |
1e-9 |
SMART |
|
Blast:RRM
|
45 |
110 |
3e-17 |
BLAST |
|
ZnF_C3H1
|
116 |
142 |
2.49e-1 |
SMART |
|
low complexity region
|
154 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168333
|
| SMART Domains |
Protein: ENSMUSP00000128950
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
13 |
39 |
4.8e-10 |
PFAM |
|
PDB:1JMT|A
|
43 |
94 |
5e-21 |
PDB |
|
SCOP:d1jmta_
|
43 |
94 |
2e-9 |
SMART |
|
Blast:RRM
|
45 |
94 |
5e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168931
|
| SMART Domains |
Protein: ENSMUSP00000129697
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
44 |
119 |
4.14e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166257
|
| SMART Domains |
Protein: ENSMUSP00000125838
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
33 |
104 |
2.35e-2 |
SMART |
|
ZnF_C3H1
|
110 |
136 |
2.49e-1 |
SMART |
|
low complexity region
|
148 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166510
|
| SMART Domains |
Protein: ENSMUSP00000132316
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
45 |
133 |
2.51e-6 |
SMART |
|
ZnF_C3H1
|
139 |
165 |
2.49e-1 |
SMART |
|
low complexity region
|
177 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168229
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,884,227 (GRCm39) |
E330G |
possibly damaging |
Het |
| Apob |
A |
C |
12: 8,057,752 (GRCm39) |
D2078A |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,854,331 (GRCm39) |
Q1681L |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,998,609 (GRCm39) |
T306A |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,394 (GRCm39) |
D1053N |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,384,795 (GRCm39) |
I2495N |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,599,634 (GRCm39) |
K840E |
possibly damaging |
Het |
| Cry1 |
A |
G |
10: 84,982,619 (GRCm39) |
L269P |
probably damaging |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,701 (GRCm39) |
E289* |
probably null |
Het |
| Dcp2 |
A |
T |
18: 44,538,581 (GRCm39) |
K215* |
probably null |
Het |
| Dnaaf11 |
A |
G |
15: 66,321,400 (GRCm39) |
I247T |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,683,632 (GRCm39) |
N537D |
probably damaging |
Het |
| Emid1 |
G |
A |
11: 5,085,407 (GRCm39) |
T113M |
probably benign |
Het |
| Exoc8 |
C |
T |
8: 125,622,918 (GRCm39) |
W483* |
probably null |
Het |
| Fes |
A |
T |
7: 80,030,031 (GRCm39) |
N582K |
probably damaging |
Het |
| Flnb |
G |
T |
14: 7,905,507 (GRCm38) |
E1086* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,455,844 (GRCm39) |
D2058E |
possibly damaging |
Het |
| Gatb |
G |
A |
3: 85,561,112 (GRCm39) |
D543N |
probably benign |
Het |
| Gm14412 |
A |
G |
2: 177,009,229 (GRCm39) |
V9A |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,745 (GRCm39) |
V238A |
possibly damaging |
Het |
| Igfbp5 |
A |
G |
1: 72,913,096 (GRCm39) |
V68A |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,154,298 (GRCm39) |
T222A |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,330,989 (GRCm39) |
E419G |
probably benign |
Het |
| Lman2 |
A |
G |
13: 55,499,315 (GRCm39) |
S187P |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,029,288 (GRCm39) |
E76G |
possibly damaging |
Het |
| Mtx3 |
A |
G |
13: 92,984,112 (GRCm39) |
I130V |
probably benign |
Het |
| Naf1 |
T |
G |
8: 67,313,188 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
G |
12: 56,580,293 (GRCm39) |
M216L |
probably benign |
Het |
| Notch1 |
C |
A |
2: 26,350,019 (GRCm39) |
V2374L |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,543,037 (GRCm39) |
D1087G |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,051,902 (GRCm39) |
F171S |
probably damaging |
Het |
| Or5an1 |
T |
G |
19: 12,261,224 (GRCm39) |
F271V |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,785,357 (GRCm39) |
C916* |
probably null |
Het |
| Phyhip |
A |
T |
14: 70,699,334 (GRCm39) |
N46Y |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,140,874 (GRCm39) |
Y502C |
possibly damaging |
Het |
| Prkcg |
A |
C |
7: 3,352,097 (GRCm39) |
|
probably benign |
Het |
| Prl8a6 |
C |
T |
13: 27,619,369 (GRCm39) |
E118K |
probably benign |
Het |
| Prpf39 |
T |
C |
12: 65,104,689 (GRCm39) |
|
probably null |
Het |
| Ptprb |
A |
G |
10: 116,205,262 (GRCm39) |
H2159R |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,595 (GRCm39) |
D571V |
probably damaging |
Het |
| Rps19 |
C |
T |
7: 24,584,552 (GRCm39) |
L34F |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 88,996,128 (GRCm39) |
S145P |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,230,051 (GRCm39) |
T586S |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,546,124 (GRCm39) |
S90G |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,410 (GRCm39) |
D619G |
probably damaging |
Het |
| Src |
A |
G |
2: 157,304,710 (GRCm39) |
D143G |
probably benign |
Het |
| Sst |
T |
C |
16: 23,708,558 (GRCm39) |
N91S |
probably benign |
Het |
| Stxbp5l |
T |
A |
16: 37,036,398 (GRCm39) |
I406F |
probably damaging |
Het |
| Thsd1 |
T |
A |
8: 22,748,887 (GRCm39) |
I525N |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,693,467 (GRCm39) |
F207I |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,656,180 (GRCm39) |
N31K |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,336,989 (GRCm39) |
V253A |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,237,924 (GRCm39) |
K99R |
possibly damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,806,212 (GRCm39) |
N140I |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,990,498 (GRCm39) |
V45I |
probably benign |
Het |
| Zbtb25 |
A |
G |
12: 76,395,903 (GRCm39) |
*440Q |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,461,978 (GRCm39) |
C1218S |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,607 (GRCm39) |
I433N |
probably damaging |
Het |
|
| Other mutations in Igflr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Igflr1
|
APN |
7 |
30,266,700 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5451:Igflr1
|
UTSW |
7 |
30,265,747 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7560:Igflr1
|
UTSW |
7 |
30,266,776 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8939:Igflr1
|
UTSW |
7 |
30,266,888 (GRCm39) |
frame shift |
probably null |
|
|
R9751:Igflr1
|
UTSW |
7 |
30,266,653 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAGTATAAGACAGCCCTGCCG -3'
(R):5'- GCAGATACTGGCTTCAAGGG -3'
Sequencing Primer
(F):5'- TGGCCTTGCAGAGCTTCAG -3'
(R):5'- CTGGCTTCAAGGGAAACTTTATTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation