Incidental Mutation 'R5451:Igflr1'
| ID |
434583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igflr1
|
| Ensembl Gene |
ENSMUSG00000036826 |
| Gene Name |
IGF-like family receptor 1 |
| Synonyms |
F630003I17Rik, Tmem149 |
| MMRRC Submission |
043016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5451 (G1)
|
| Quality Score |
91 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30264852-30267387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30265747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 57
(N57S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006470]
[ENSMUST00000043273]
[ENSMUST00000043850]
[ENSMUST00000043898]
[ENSMUST00000108154]
[ENSMUST00000108161]
[ENSMUST00000163848]
[ENSMUST00000163654]
[ENSMUST00000164365]
[ENSMUST00000163276]
[ENSMUST00000163330]
[ENSMUST00000163464]
[ENSMUST00000163482]
[ENSMUST00000172251]
[ENSMUST00000166960]
[ENSMUST00000207747]
[ENSMUST00000167202]
[ENSMUST00000207797]
[ENSMUST00000207031]
[ENSMUST00000167361]
[ENSMUST00000168931]
[ENSMUST00000166257]
[ENSMUST00000166510]
[ENSMUST00000167042]
[ENSMUST00000171850]
[ENSMUST00000168555]
[ENSMUST00000171912]
[ENSMUST00000168229]
[ENSMUST00000168333]
[ENSMUST00000167501]
[ENSMUST00000208628]
|
| 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: N36S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042312
Gene: ENSMUSG00000036826
AA Change: N36S
| 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: ENSMUST00000164438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165524
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163848
|
| 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: 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: ENSMUST00000164365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163276
|
| 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: 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: ENSMUST00000163482
|
| SMART Domains |
Protein: ENSMUSP00000130649
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172251
AA Change: N57S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132400
Gene: ENSMUSG00000036826
AA Change: N57S
| 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 |
noncoding transcript
Transcript: ENSMUST00000171364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167024
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166960
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170453
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169962
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207031
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165773
|
| 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: 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: ENSMUST00000168555
|
| 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: ENSMUST00000168229
|
| 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: ENSMUST00000167501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208628
|
| Meta Mutation Damage Score |
0.0696 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,334,076 (GRCm39) |
F1142S |
possibly damaging |
Het |
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Calhm2 |
T |
A |
19: 47,121,314 (GRCm39) |
Y285F |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,270 (GRCm39) |
T355A |
probably damaging |
Het |
| Ccnq |
T |
A |
11: 78,642,115 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,733,747 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 115,612,873 (GRCm39) |
S3P |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,143,476 (GRCm39) |
G388D |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,589,256 (GRCm39) |
M447T |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,281,179 (GRCm39) |
G2747S |
possibly damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,864,901 (GRCm39) |
S51G |
probably benign |
Het |
| Gabbr2 |
T |
A |
4: 46,684,294 (GRCm39) |
Y660F |
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,751,868 (GRCm39) |
E140G |
probably benign |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,422,445 (GRCm39) |
L138Q |
probably damaging |
Het |
| Ighv13-2 |
A |
G |
12: 114,321,473 (GRCm39) |
F89L |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,928,846 (GRCm39) |
V609A |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,445,850 (GRCm39) |
V233A |
probably benign |
Het |
| Lingo1 |
T |
G |
9: 56,527,711 (GRCm39) |
I293L |
probably damaging |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lsm2 |
T |
C |
17: 35,201,185 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
T |
A |
15: 79,011,104 (GRCm39) |
|
probably null |
Het |
| Mpp7 |
T |
C |
18: 7,442,855 (GRCm39) |
D156G |
probably null |
Het |
| Mybbp1a |
A |
G |
11: 72,338,939 (GRCm39) |
D822G |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,325,368 (GRCm39) |
V180A |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,409,103 (GRCm39) |
Y159* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,221 (GRCm39) |
T1290A |
probably benign |
Het |
| Or12e1 |
T |
A |
2: 87,022,796 (GRCm39) |
V255E |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,341 (GRCm39) |
I46V |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,946,787 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,440,720 (GRCm39) |
Y1290F |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,827 (GRCm39) |
N132D |
probably benign |
Het |
| Rfx3 |
T |
G |
19: 27,827,359 (GRCm39) |
T76P |
probably damaging |
Het |
| Rps13-ps2 |
G |
T |
7: 88,180,036 (GRCm39) |
|
noncoding transcript |
Het |
| Slc12a3 |
A |
G |
8: 95,083,655 (GRCm39) |
D894G |
possibly damaging |
Het |
| Slc25a15 |
G |
A |
8: 22,879,983 (GRCm39) |
T54I |
probably benign |
Het |
| Slco1c1 |
A |
T |
6: 141,505,604 (GRCm39) |
Q461L |
probably benign |
Het |
| Slfn5 |
T |
G |
11: 82,850,912 (GRCm39) |
I403R |
probably damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,071,571 (GRCm39) |
T318S |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,479,271 (GRCm39) |
R668M |
probably damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,503 (GRCm39) |
I160F |
probably damaging |
Het |
| Trgj4 |
G |
T |
13: 19,526,335 (GRCm39) |
|
probably benign |
Het |
| Trim9 |
A |
G |
12: 70,393,603 (GRCm39) |
S114P |
probably benign |
Het |
| Trp53i11 |
T |
C |
2: 93,030,200 (GRCm39) |
L169P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r190-ps |
A |
G |
13: 22,328,901 (GRCm39) |
|
noncoding transcript |
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 |
|
R2209:Igflr1
|
UTSW |
7 |
30,267,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- GGACTTCCTGGAATGTGCTG -3'
(R):5'- CTGCACAAGCTTAACCTGTG -3'
Sequencing Primer
(F):5'- CTTCCTGGAATGTGCTGCAGAAAC -3'
(R):5'- AAGCTTAACCTGTGTCCACC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation