Incidental Mutation 'R4422:AW551984'
| ID |
327157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| MMRRC Submission |
041695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39511373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 111
(C111S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
| AlphaFold |
Q8BGF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042485
AA Change: C111S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: C111S
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119722
AA Change: C111S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: C111S
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130829
|
| SMART Domains |
Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
5 |
52 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136814
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141370
AA Change: C111S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
AA Change: C111S
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,895,412 (GRCm39) |
S1168P |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,024,046 (GRCm39) |
M142V |
probably benign |
Het |
| Akna |
G |
T |
4: 63,305,330 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
| Bak1 |
C |
A |
17: 27,240,298 (GRCm39) |
G130W |
probably damaging |
Het |
| Bank1 |
T |
A |
3: 135,788,972 (GRCm39) |
Q441L |
probably damaging |
Het |
| C030034I22Rik |
T |
C |
17: 69,725,153 (GRCm39) |
|
noncoding transcript |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cct7 |
A |
G |
6: 85,444,127 (GRCm39) |
R355G |
probably damaging |
Het |
| Cd19 |
C |
T |
7: 126,012,578 (GRCm39) |
V272I |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,390,547 (GRCm39) |
L1095S |
probably damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,928,591 (GRCm39) |
Y148* |
probably null |
Het |
| Chrnb3 |
T |
C |
8: 27,886,761 (GRCm39) |
V445A |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,467,559 (GRCm39) |
M852L |
unknown |
Het |
| Dhx29 |
T |
C |
13: 113,083,781 (GRCm39) |
L612P |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,793,463 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,972,799 (GRCm39) |
T2045A |
possibly damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,538,377 (GRCm39) |
T245A |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,488,354 (GRCm39) |
E42G |
probably damaging |
Het |
| Fam120b |
C |
A |
17: 15,622,445 (GRCm39) |
T141K |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Gcnt2 |
T |
G |
13: 41,014,001 (GRCm39) |
Y57* |
probably null |
Het |
| Gm5409 |
C |
T |
6: 41,396,519 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
A |
G |
5: 124,135,069 (GRCm39) |
K402E |
possibly damaging |
Het |
| Hlcs |
G |
A |
16: 93,939,819 (GRCm39) |
P506L |
possibly damaging |
Het |
| Itih4 |
T |
A |
14: 30,611,821 (GRCm39) |
F142I |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,360,754 (GRCm39) |
D518G |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,649,248 (GRCm39) |
C341Y |
probably damaging |
Het |
| Lsr |
G |
T |
7: 30,665,422 (GRCm39) |
N177K |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,359,839 (GRCm39) |
S1815F |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,503,008 (GRCm39) |
S95P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,878,887 (GRCm39) |
L218P |
probably damaging |
Het |
| Nlrp4f |
C |
T |
13: 65,332,776 (GRCm39) |
|
probably null |
Het |
| Nrde2 |
G |
A |
12: 100,112,286 (GRCm39) |
Q137* |
probably null |
Het |
| Or12e10 |
C |
A |
2: 87,640,989 (GRCm39) |
T275K |
probably damaging |
Het |
| Or51l14 |
G |
T |
7: 103,101,450 (GRCm39) |
R302L |
probably damaging |
Het |
| Or6z7 |
G |
T |
7: 6,484,037 (GRCm39) |
Y39* |
probably null |
Het |
| Phf24 |
G |
A |
4: 42,934,817 (GRCm39) |
C151Y |
probably damaging |
Het |
| Pik3r1 |
T |
G |
13: 101,830,892 (GRCm39) |
N3T |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,542,484 (GRCm39) |
K821E |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
| Prelid2 |
T |
C |
18: 42,045,461 (GRCm39) |
T150A |
probably benign |
Het |
| Psg21 |
A |
G |
7: 18,381,257 (GRCm39) |
S429P |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,140,360 (GRCm39) |
Y114H |
possibly damaging |
Het |
| Rsbn1l |
G |
T |
5: 21,101,544 (GRCm39) |
H665Q |
probably damaging |
Het |
| Rspo2 |
T |
C |
15: 43,033,150 (GRCm39) |
N24S |
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,731,952 (GRCm39) |
C2329* |
probably null |
Het |
| Skint2 |
T |
A |
4: 112,441,785 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,123,149 (GRCm39) |
Y37H |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,938,749 (GRCm39) |
R111W |
probably damaging |
Het |
| Tnks2 |
G |
A |
19: 36,823,053 (GRCm39) |
V107I |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,019,882 (GRCm39) |
L404* |
probably null |
Het |
| Vmn2r86 |
T |
C |
10: 130,288,845 (GRCm39) |
I219V |
possibly damaging |
Het |
| Vsig10 |
T |
C |
5: 117,462,986 (GRCm39) |
S71P |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,930,856 (GRCm39) |
N896S |
probably benign |
Het |
| Zfp871 |
T |
A |
17: 32,993,808 (GRCm39) |
S437C |
probably benign |
Het |
| Zfp871 |
C |
A |
17: 32,993,807 (GRCm39) |
S456I |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,708 (GRCm39) |
T480A |
probably benign |
Het |
|
| Other mutations in AW551984 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:AW551984
|
APN |
9 |
39,504,145 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL00869:AW551984
|
APN |
9 |
39,504,730 (GRCm39) |
splice site |
probably benign |
|
|
IGL01411:AW551984
|
APN |
9 |
39,505,087 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01744:AW551984
|
APN |
9 |
39,502,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02102:AW551984
|
APN |
9 |
39,500,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02149:AW551984
|
APN |
9 |
39,504,220 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02151:AW551984
|
APN |
9 |
39,504,241 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02154:AW551984
|
APN |
9 |
39,500,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02158:AW551984
|
APN |
9 |
39,510,621 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL02574:AW551984
|
APN |
9 |
39,500,382 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02754:AW551984
|
APN |
9 |
39,504,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02754:AW551984
|
APN |
9 |
39,507,922 (GRCm39) |
nonsense |
probably null |
|
|
IGL02838:AW551984
|
APN |
9 |
39,505,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:AW551984
|
APN |
9 |
39,500,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03328:AW551984
|
APN |
9 |
39,508,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:AW551984
|
APN |
9 |
39,511,062 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
PIT4260001:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0141:AW551984
|
UTSW |
9 |
39,501,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:AW551984
|
UTSW |
9 |
39,511,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:AW551984
|
UTSW |
9 |
39,510,617 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0453:AW551984
|
UTSW |
9 |
39,511,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:AW551984
|
UTSW |
9 |
39,511,912 (GRCm39) |
missense |
probably null |
1.00 |
|
R1005:AW551984
|
UTSW |
9 |
39,505,029 (GRCm39) |
nonsense |
probably null |
|
|
R1585:AW551984
|
UTSW |
9 |
39,510,632 (GRCm39) |
nonsense |
probably null |
|
|
R2177:AW551984
|
UTSW |
9 |
39,511,111 (GRCm39) |
missense |
probably benign |
|
|
R3117:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3119:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
|
R3837:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
|
R3839:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
|
R4299:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4713:AW551984
|
UTSW |
9 |
39,508,449 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4905:AW551984
|
UTSW |
9 |
39,508,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4966:AW551984
|
UTSW |
9 |
39,508,472 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5022:AW551984
|
UTSW |
9 |
39,509,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5041:AW551984
|
UTSW |
9 |
39,511,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:AW551984
|
UTSW |
9 |
39,505,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:AW551984
|
UTSW |
9 |
39,501,994 (GRCm39) |
missense |
probably benign |
|
|
R5443:AW551984
|
UTSW |
9 |
39,509,325 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5532:AW551984
|
UTSW |
9 |
39,508,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:AW551984
|
UTSW |
9 |
39,504,169 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5586:AW551984
|
UTSW |
9 |
39,502,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5601:AW551984
|
UTSW |
9 |
39,502,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5618:AW551984
|
UTSW |
9 |
39,502,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5701:AW551984
|
UTSW |
9 |
39,504,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6122:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6142:AW551984
|
UTSW |
9 |
39,508,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6272:AW551984
|
UTSW |
9 |
39,509,333 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6429:AW551984
|
UTSW |
9 |
39,511,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6659:AW551984
|
UTSW |
9 |
39,500,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6670:AW551984
|
UTSW |
9 |
39,504,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:AW551984
|
UTSW |
9 |
39,511,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:AW551984
|
UTSW |
9 |
39,512,085 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7077:AW551984
|
UTSW |
9 |
39,502,723 (GRCm39) |
missense |
probably benign |
|
|
R7083:AW551984
|
UTSW |
9 |
39,508,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:AW551984
|
UTSW |
9 |
39,504,221 (GRCm39) |
missense |
probably benign |
|
|
R7475:AW551984
|
UTSW |
9 |
39,509,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7534:AW551984
|
UTSW |
9 |
39,502,777 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7542:AW551984
|
UTSW |
9 |
39,505,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7708:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7729:AW551984
|
UTSW |
9 |
39,511,071 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7955:AW551984
|
UTSW |
9 |
39,507,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:AW551984
|
UTSW |
9 |
39,510,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:AW551984
|
UTSW |
9 |
39,510,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8402:AW551984
|
UTSW |
9 |
39,508,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:AW551984
|
UTSW |
9 |
39,511,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8810:AW551984
|
UTSW |
9 |
39,511,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:AW551984
|
UTSW |
9 |
39,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:AW551984
|
UTSW |
9 |
39,500,998 (GRCm39) |
nonsense |
probably null |
|
|
R9019:AW551984
|
UTSW |
9 |
39,508,973 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:AW551984
|
UTSW |
9 |
39,501,899 (GRCm39) |
nonsense |
probably null |
|
|
ZE80:AW551984
|
UTSW |
9 |
39,504,963 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGGCAGGTATCCAAAAGG -3'
(R):5'- GGGGTGCAGATAATTTGTCATCC -3'
Sequencing Primer
(F):5'- TCCAAAAGGGAGAGGCACTC -3'
(R):5'- CTGTCAAAGTCCCTGGAAATAGTCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation