Incidental Mutation 'R3836:AW551984'
| ID |
275646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| MMRRC Submission |
040891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R3836 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 39509204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
| AlphaFold |
Q8BGF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042485
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
| 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: ENSMUST00000119722
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
| 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 benign
Transcript: ENSMUST00000141370
|
| SMART Domains |
Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
A |
G |
5: 77,026,315 (GRCm39) |
V903A |
probably benign |
Het |
| Afg2a |
T |
A |
3: 37,487,792 (GRCm39) |
Y428N |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,817,531 (GRCm39) |
D271V |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,092,829 (GRCm39) |
V167M |
possibly damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Bub1 |
G |
T |
2: 127,656,806 (GRCm39) |
P442Q |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,790 (GRCm39) |
E476G |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,826,509 (GRCm39) |
D28G |
probably benign |
Het |
| Crym |
A |
G |
7: 119,800,439 (GRCm39) |
V61A |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,844,623 (GRCm39) |
|
probably null |
Het |
| Dtna |
A |
T |
18: 23,758,159 (GRCm39) |
Q488L |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,078,378 (GRCm39) |
L565R |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Fnbp4 |
A |
G |
2: 90,577,129 (GRCm39) |
T154A |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,781,290 (GRCm39) |
L32P |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
T |
G |
4: 96,650,334 (GRCm39) |
T171P |
probably damaging |
Het |
| Gm4868 |
A |
C |
5: 125,925,014 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Gstm5 |
T |
C |
3: 107,803,678 (GRCm39) |
I37T |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itga11 |
G |
T |
9: 62,676,565 (GRCm39) |
V918L |
probably benign |
Het |
| Itgb2l |
T |
A |
16: 96,227,367 (GRCm39) |
M559L |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,984,988 (GRCm39) |
|
probably null |
Het |
| Map3k11 |
A |
G |
19: 5,740,831 (GRCm39) |
E186G |
possibly damaging |
Het |
| Mbl2 |
T |
C |
19: 30,216,914 (GRCm39) |
F242S |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,672,675 (GRCm39) |
T102A |
possibly damaging |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Mkln1 |
A |
G |
6: 31,445,271 (GRCm39) |
D389G |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
| Myd88 |
A |
G |
9: 119,167,259 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,183,082 (GRCm39) |
E502K |
probably damaging |
Het |
| Nudt5 |
T |
A |
2: 5,871,158 (GRCm39) |
|
probably null |
Het |
| Or52b2 |
G |
A |
7: 104,986,417 (GRCm39) |
P169S |
probably benign |
Het |
| Or5h23 |
A |
G |
16: 58,906,586 (GRCm39) |
S87P |
possibly damaging |
Het |
| Or6c69b |
C |
T |
10: 129,627,039 (GRCm39) |
V140M |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,029,006 (GRCm39) |
V30A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,475,159 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
A |
G |
14: 66,393,791 (GRCm39) |
L894P |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,755,078 (GRCm39) |
S183P |
probably benign |
Het |
| Reln |
A |
G |
5: 22,116,012 (GRCm39) |
Y2999H |
probably damaging |
Het |
| Rims4 |
A |
G |
2: 163,760,573 (GRCm39) |
S11P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,829,822 (GRCm39) |
K448R |
possibly damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,463,816 (GRCm39) |
T33S |
probably benign |
Het |
| Sgip1 |
A |
G |
4: 102,724,897 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,807,176 (GRCm39) |
M158K |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,949 (GRCm39) |
I724N |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,614,055 (GRCm39) |
T738A |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,533 (GRCm39) |
E20D |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
C |
A |
6: 123,830,044 (GRCm39) |
D36Y |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,482,511 (GRCm39) |
V946A |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,700,019 (GRCm39) |
T14I |
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 |
|
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 |
|
R4422:AW551984
|
UTSW |
9 |
39,511,373 (GRCm39) |
missense |
probably null |
0.00 |
|
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'- AGCAGAATCAGTGTTTCCTGG -3'
(R):5'- AGTTTAATGGGAGCACCTTCTG -3'
Sequencing Primer
(F):5'- CCAGCAAAGTGATTGGGTGTGC -3'
(R):5'- CTGCAATGGTGAGTTTCTACCCAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation