Incidental Mutation 'R6422:Gm14443'
| ID |
518201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14443
|
| Ensembl Gene |
ENSMUSG00000078902 |
| Gene Name |
predicted gene 14443 |
| Synonyms |
|
| MMRRC Submission |
044563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6422 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
175008048-175017664 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 175012174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 91
(Q91*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109054]
|
| AlphaFold |
A2ARX0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109054
AA Change: Q91*
|
| SMART Domains |
Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: Q91*
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.9e-15 |
SMART |
|
ZnF_C2H2
|
78 |
97 |
1.38e2 |
SMART |
|
ZnF_C2H2
|
103 |
123 |
3.05e1 |
SMART |
|
ZnF_C2H2
|
131 |
153 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
159 |
179 |
7.89e0 |
SMART |
|
ZnF_C2H2
|
187 |
209 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
2.27e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127251
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
T |
A |
4: 154,045,381 (GRCm39) |
F137I |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,665,109 (GRCm39) |
K417R |
possibly damaging |
Het |
| Btbd9 |
G |
A |
17: 30,749,230 (GRCm39) |
A28V |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,492,626 (GRCm39) |
Y1890H |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,164,549 (GRCm39) |
M170K |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,114,069 (GRCm39) |
N334K |
possibly damaging |
Het |
| Cep85l |
A |
T |
10: 53,167,876 (GRCm39) |
M634K |
possibly damaging |
Het |
| Col20a1 |
C |
A |
2: 180,656,612 (GRCm39) |
T1161N |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,096,892 (GRCm39) |
D1155E |
probably damaging |
Het |
| Dlst |
T |
A |
12: 85,177,659 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
A |
C |
18: 20,228,090 (GRCm39) |
L422R |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,603 (GRCm39) |
W1699R |
probably damaging |
Het |
| Gm8159 |
T |
C |
14: 15,850,210 (GRCm39) |
I143T |
probably damaging |
Het |
| Il4i1 |
G |
T |
7: 44,489,560 (GRCm39) |
A442S |
probably damaging |
Het |
| Kif26a |
T |
G |
12: 112,135,309 (GRCm39) |
L337R |
possibly damaging |
Het |
| Lat2 |
T |
C |
5: 134,632,015 (GRCm39) |
D144G |
probably benign |
Het |
| Ndst1 |
G |
T |
18: 60,836,025 (GRCm39) |
H419Q |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,803,533 (GRCm39) |
I1484T |
probably benign |
Het |
| Or51v14 |
T |
G |
7: 103,261,221 (GRCm39) |
E113A |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,820,332 (GRCm39) |
M697K |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,937,992 (GRCm39) |
Y1246C |
probably damaging |
Het |
| Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
| Ptpn7 |
G |
T |
1: 135,062,240 (GRCm39) |
C62F |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sall2 |
A |
C |
14: 52,550,181 (GRCm39) |
*1003G |
probably null |
Het |
| Slc5a4b |
C |
A |
10: 75,939,696 (GRCm39) |
V147F |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,258,315 (GRCm39) |
W702R |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,904,157 (GRCm39) |
C1203* |
probably null |
Het |
| Tmprss11d |
T |
A |
5: 86,457,284 (GRCm39) |
Y125F |
probably damaging |
Het |
| Tpp1 |
G |
A |
7: 105,396,163 (GRCm39) |
T512I |
probably benign |
Het |
| Tyw5 |
G |
A |
1: 57,440,570 (GRCm39) |
A64V |
probably damaging |
Het |
|
| Other mutations in Gm14443 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02248:Gm14443
|
APN |
2 |
175,012,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0081:Gm14443
|
UTSW |
2 |
175,011,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Gm14443
|
UTSW |
2 |
175,013,383 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Gm14443
|
UTSW |
2 |
175,011,497 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4061:Gm14443
|
UTSW |
2 |
175,011,402 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4089:Gm14443
|
UTSW |
2 |
175,013,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Gm14443
|
UTSW |
2 |
175,011,372 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5405:Gm14443
|
UTSW |
2 |
175,013,644 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5417:Gm14443
|
UTSW |
2 |
175,011,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Gm14443
|
UTSW |
2 |
175,011,069 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7880:Gm14443
|
UTSW |
2 |
175,011,163 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7962:Gm14443
|
UTSW |
2 |
175,012,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8081:Gm14443
|
UTSW |
2 |
175,012,238 (GRCm39) |
nonsense |
probably null |
|
|
R8174:Gm14443
|
UTSW |
2 |
175,011,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Gm14443
|
UTSW |
2 |
175,013,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8725:Gm14443
|
UTSW |
2 |
175,010,693 (GRCm39) |
nonsense |
probably null |
|
|
R8804:Gm14443
|
UTSW |
2 |
175,011,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9109:Gm14443
|
UTSW |
2 |
175,011,869 (GRCm39) |
nonsense |
probably null |
|
|
R9298:Gm14443
|
UTSW |
2 |
175,011,869 (GRCm39) |
nonsense |
probably null |
|
|
R9332:Gm14443
|
UTSW |
2 |
175,017,610 (GRCm39) |
start gained |
probably benign |
|
|
R9624:Gm14443
|
UTSW |
2 |
175,012,129 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9766:Gm14443
|
UTSW |
2 |
175,012,248 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTATGTATTCGGAGGTCACTC -3'
(R):5'- GTAAAACAATCCATAATGCAGGAGAA -3'
Sequencing Primer
(F):5'- CTGCAAAGGCTTTACCACATTGG -3'
(R):5'- TCCATAATGCAGGAGAACACCTTTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation