Incidental Mutation 'RF051:Gm14399'
| ID |
605136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14399
|
| Ensembl Gene |
ENSMUSG00000090093 |
| Gene Name |
predicted gene 14399 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
RF051 (G1)
|
| Quality Score |
109.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
174971286-174983805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 174972994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 254
(Q254E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099029]
[ENSMUST00000108929]
[ENSMUST00000109059]
[ENSMUST00000109060]
[ENSMUST00000109062]
|
| AlphaFold |
A2ARW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099029
|
| SMART Domains |
Protein: ENSMUSP00000096627
Gene: ENSMUSG00000090093
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
63 |
1.37e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108929
|
| SMART Domains |
Protein: ENSMUSP00000104557
Gene: ENSMUSG00000090093
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
46 |
65 |
1.61e2 |
SMART |
|
ZnF_C2H2
|
71 |
93 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
99 |
121 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
127 |
149 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
155 |
177 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109059
|
| SMART Domains |
Protein: ENSMUSP00000104687
Gene: ENSMUSG00000090093
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
1.37e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109060
AA Change: Q254E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000104688
Gene: ENSMUSG00000090093
AA Change: Q254E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.84e-13 |
SMART |
|
ZnF_C2H2
|
78 |
97 |
1.61e2 |
SMART |
|
ZnF_C2H2
|
103 |
125 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
159 |
181 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109062
|
| SMART Domains |
Protein: ENSMUSP00000104690
Gene: ENSMUSG00000090093
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.27e-16 |
SMART |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnpy3 |
CTC |
CTCATC |
17: 47,047,674 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTCCGG |
CTCCGGGTCCGG |
X: 71,313,655 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
TGC |
TGCCGGAGCAGCCACAGCGGC |
4: 59,610,636 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCAAAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GGG |
GGGGCTTGAAGTGGG |
3: 37,179,990 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
CCTTCT |
CCT |
5: 25,518,477 (GRCm39) |
|
probably benign |
Het |
| Manbal |
CGATAGAAT |
C |
2: 157,237,932 (GRCm39) |
|
probably null |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,777 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
GC |
GCTGGCTGCC |
15: 81,954,211 (GRCm39) |
|
probably null |
Het |
| Nalf2 |
GCCGCC |
GCCGCCACCGCC |
X: 98,864,968 (GRCm39) |
|
probably benign |
Het |
| Nbea |
TTTA |
T |
3: 55,916,633 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCC |
TGGCCGCACCTGGGGCCTCGGCC |
11: 4,891,054 (GRCm39) |
|
probably benign |
Het |
| Or2b7 |
GCCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTATGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT |
GGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT |
13: 21,739,693 (GRCm39) |
|
probably null |
Het |
| Pde3b |
GGTGGTGGTG |
GGTGGTGGTGGTG |
7: 114,134,010 (GRCm39) |
|
probably benign |
Het |
| Plekhg2 |
GGTG |
GG |
7: 28,061,777 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
AGCAATGGGGA |
AGCAATGGGGAATCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGA |
5: 90,756,788 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGCAGC |
AGCAGCCGCAGC |
19: 26,608,388 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GAG |
GAGCAG |
X: 98,110,130 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CTTGGC |
CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCATTGGC |
18: 60,966,651 (GRCm39) |
|
probably benign |
Het |
| Triobp |
AGCCCCAGGACTCCCTGTGCCCAACGG |
AGCCCCAGGACTCCCTGTGCCCAACGGAACAGCCCCAGGACTCCCTGTGCCCAACGG |
15: 78,851,234 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTCT |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm14399 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Gm14399
|
APN |
2 |
174,973,315 (GRCm39) |
nonsense |
probably null |
|
|
R2185:Gm14399
|
UTSW |
2 |
174,973,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3711:Gm14399
|
UTSW |
2 |
174,973,303 (GRCm39) |
nonsense |
probably null |
|
|
R4907:Gm14399
|
UTSW |
2 |
174,973,182 (GRCm39) |
intron |
probably benign |
|
|
R5361:Gm14399
|
UTSW |
2 |
174,973,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Gm14399
|
UTSW |
2 |
174,974,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7278:Gm14399
|
UTSW |
2 |
174,972,252 (GRCm39) |
intron |
probably benign |
|
|
R7289:Gm14399
|
UTSW |
2 |
174,972,204 (GRCm39) |
missense |
unknown |
|
|
R7946:Gm14399
|
UTSW |
2 |
174,973,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8390:Gm14399
|
UTSW |
2 |
174,972,605 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAATACTGCAAAGGCTTTACCACA -3'
(R):5'- TGCAAGAAGCTGTCATCTCC -3'
Sequencing Primer
(F):5'- CGCTCATGTATGTGGAGATGAC -3'
(R):5'- GAAGCTGTCATCTCCGAATGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation