Incidental Mutation 'R8984:AU040320'
| ID |
683872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
068817-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126734936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 750
(F750S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
| AlphaFold |
Q8K135 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047431
AA Change: F750S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: F750S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
FN3
|
113 |
391 |
8.45e1 |
SMART |
|
IG_like
|
305 |
398 |
3.57e1 |
SMART |
|
PKD
|
309 |
400 |
3.1e-1 |
SMART |
|
FN3
|
399 |
485 |
2.7e1 |
SMART |
|
PKD
|
408 |
497 |
1.87e-4 |
SMART |
|
FN3
|
502 |
676 |
4.47e1 |
SMART |
|
PKD
|
503 |
593 |
3.22e-8 |
SMART |
|
IG_like
|
508 |
591 |
1.17e1 |
SMART |
|
IG_like
|
597 |
782 |
1.66e2 |
SMART |
|
PKD
|
599 |
687 |
8.98e-7 |
SMART |
|
PKD
|
693 |
784 |
1.05e-7 |
SMART |
|
FN3
|
694 |
772 |
3.71e1 |
SMART |
|
transmembrane domain
|
927 |
949 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1010 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102607
AA Change: F750S
PolyPhen 2
Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: F750S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
FN3
|
113 |
391 |
8.45e1 |
SMART |
|
IG_like
|
305 |
398 |
3.57e1 |
SMART |
|
PKD
|
309 |
400 |
3.1e-1 |
SMART |
|
FN3
|
399 |
485 |
2.7e1 |
SMART |
|
PKD
|
408 |
497 |
1.87e-4 |
SMART |
|
FN3
|
502 |
676 |
4.47e1 |
SMART |
|
PKD
|
503 |
593 |
3.22e-8 |
SMART |
|
IG_like
|
508 |
591 |
1.17e1 |
SMART |
|
IG_like
|
597 |
782 |
1.66e2 |
SMART |
|
PKD
|
599 |
687 |
8.98e-7 |
SMART |
|
PKD
|
693 |
784 |
1.05e-7 |
SMART |
|
FN3
|
694 |
772 |
3.71e1 |
SMART |
|
transmembrane domain
|
927 |
949 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1010 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102608
AA Change: F750S
PolyPhen 2
Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: F750S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
FN3
|
113 |
391 |
8.45e1 |
SMART |
|
IG_like
|
305 |
398 |
3.57e1 |
SMART |
|
PKD
|
309 |
400 |
3.1e-1 |
SMART |
|
FN3
|
399 |
485 |
2.7e1 |
SMART |
|
PKD
|
408 |
497 |
1.87e-4 |
SMART |
|
FN3
|
502 |
676 |
4.47e1 |
SMART |
|
PKD
|
503 |
593 |
3.22e-8 |
SMART |
|
IG_like
|
508 |
591 |
1.17e1 |
SMART |
|
IG_like
|
597 |
782 |
1.66e2 |
SMART |
|
PKD
|
599 |
687 |
8.98e-7 |
SMART |
|
PKD
|
693 |
784 |
1.05e-7 |
SMART |
|
FN3
|
694 |
772 |
3.71e1 |
SMART |
|
transmembrane domain
|
927 |
949 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1010 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1641 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]
PHENOTYPE: Null mice display decreased susceptibility to adenoviral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
A |
9: 122,180,880 (GRCm39) |
V10E |
probably benign |
Het |
| Adss2 |
A |
T |
1: 177,601,280 (GRCm39) |
|
probably benign |
Het |
| AI467606 |
A |
T |
7: 126,691,673 (GRCm39) |
I83F |
probably damaging |
Het |
| Atn1 |
A |
T |
6: 124,723,923 (GRCm39) |
W437R |
unknown |
Het |
| Atxn7l2 |
T |
C |
3: 108,116,290 (GRCm39) |
|
probably benign |
Het |
| B3gnt6 |
A |
G |
7: 97,842,821 (GRCm39) |
S380P |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,946,215 (GRCm39) |
Q3020R |
probably damaging |
Het |
| Borcs6 |
A |
T |
11: 68,950,828 (GRCm39) |
I69F |
probably benign |
Het |
| Brd7 |
T |
A |
8: 89,081,340 (GRCm39) |
M170L |
probably benign |
Het |
| Ccdc191 |
T |
A |
16: 43,710,581 (GRCm39) |
|
probably benign |
Het |
| Cit |
C |
T |
5: 116,064,534 (GRCm39) |
T472I |
possibly damaging |
Het |
| Ddx25 |
G |
T |
9: 35,468,685 (GRCm39) |
D57E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,674,436 (GRCm39) |
L447* |
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,554,641 (GRCm39) |
D247G |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,890,254 (GRCm39) |
V869E |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,622,769 (GRCm39) |
I533F |
probably benign |
Het |
| Fam117a |
A |
G |
11: 95,254,823 (GRCm39) |
|
probably null |
Het |
| Fam222a |
C |
T |
5: 114,749,092 (GRCm39) |
T96I |
possibly damaging |
Het |
| Farsa |
C |
T |
8: 85,594,228 (GRCm39) |
T326I |
probably damaging |
Het |
| Fkbp1b |
T |
A |
12: 4,891,401 (GRCm39) |
D12V |
probably damaging |
Het |
| Garin3 |
C |
A |
11: 46,295,695 (GRCm39) |
Y22* |
probably null |
Het |
| Gc |
C |
T |
5: 89,589,421 (GRCm39) |
|
probably null |
Het |
| Git2 |
T |
C |
5: 114,868,256 (GRCm39) |
E705G |
probably damaging |
Het |
| Gm10318 |
G |
A |
10: 77,689,078 (GRCm39) |
C128Y |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,393 (GRCm39) |
A30S |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 124,002,571 (GRCm39) |
R311* |
probably null |
Het |
| Hira |
A |
G |
16: 18,746,261 (GRCm39) |
Q468R |
possibly damaging |
Het |
| Hspa1l |
T |
C |
17: 35,197,092 (GRCm39) |
V377A |
probably damaging |
Het |
| Igkv2-137 |
T |
A |
6: 67,532,659 (GRCm39) |
W14R |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,953,391 (GRCm39) |
L317Q |
probably damaging |
Het |
| Jade2 |
A |
C |
11: 51,715,906 (GRCm39) |
L433W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,840,559 (GRCm39) |
T1186A |
probably benign |
Het |
| Krtap28-10 |
C |
A |
1: 83,019,894 (GRCm39) |
C82F |
unknown |
Het |
| Ksr1 |
G |
A |
11: 78,931,709 (GRCm39) |
T333M |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,573,598 (GRCm39) |
F132S |
probably damaging |
Het |
| Myo7b |
C |
A |
18: 32,099,402 (GRCm39) |
K1673N |
probably null |
Het |
| Myom3 |
T |
A |
4: 135,515,255 (GRCm39) |
N716K |
|
Het |
| Ndst4 |
G |
A |
3: 125,515,810 (GRCm39) |
G312R |
probably damaging |
Het |
| Ndufaf2 |
A |
G |
13: 108,189,316 (GRCm39) |
V144A |
probably benign |
Het |
| Omd |
T |
C |
13: 49,743,576 (GRCm39) |
S209P |
possibly damaging |
Het |
| Or2n1c |
A |
G |
17: 38,519,304 (GRCm39) |
H56R |
probably damaging |
Het |
| Or2t47 |
G |
C |
11: 58,442,209 (GRCm39) |
N285K |
probably damaging |
Het |
| Or51b17 |
G |
A |
7: 103,542,816 (GRCm39) |
T42I |
probably benign |
Het |
| Or51e1 |
T |
A |
7: 102,359,219 (GRCm39) |
I251N |
possibly damaging |
Het |
| Or52a24 |
T |
C |
7: 103,381,220 (GRCm39) |
I29T |
probably damaging |
Het |
| Or52e3 |
T |
C |
7: 102,869,393 (GRCm39) |
L156P |
possibly damaging |
Het |
| Patl1 |
T |
A |
19: 11,898,760 (GRCm39) |
Y152N |
probably damaging |
Het |
| Plaur |
T |
A |
7: 24,164,577 (GRCm39) |
M27K |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,694,439 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,990,100 (GRCm39) |
V1142A |
probably damaging |
Het |
| Psg28 |
T |
A |
7: 18,156,981 (GRCm39) |
N418I |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 75,863,251 (GRCm39) |
F1237I |
probably damaging |
Het |
| Ptprj |
G |
A |
2: 90,270,987 (GRCm39) |
P1247L |
probably damaging |
Het |
| Rbms3 |
A |
T |
9: 116,524,886 (GRCm39) |
|
probably null |
Het |
| Rgs18 |
A |
G |
1: 144,629,566 (GRCm39) |
V231A |
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,343,277 (GRCm39) |
R156G |
possibly damaging |
Het |
| Rsad1 |
A |
C |
11: 94,439,010 (GRCm39) |
V150G |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,462,005 (GRCm39) |
V350I |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,626,808 (GRCm39) |
I192T |
possibly damaging |
Het |
| Slc25a36 |
G |
A |
9: 96,961,259 (GRCm39) |
T259I |
probably benign |
Het |
| Smarcd3 |
T |
A |
5: 24,798,986 (GRCm39) |
E324V |
probably null |
Het |
| St3gal4 |
A |
G |
9: 34,966,944 (GRCm39) |
V2A |
possibly damaging |
Het |
| Stk17b |
A |
C |
1: 53,796,784 (GRCm39) |
S328A |
probably benign |
Het |
| Tbrg1 |
A |
G |
9: 37,563,949 (GRCm39) |
Y229H |
probably damaging |
Het |
| Tdg |
A |
G |
10: 82,484,514 (GRCm39) |
N409S |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,212,036 (GRCm39) |
E315G |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,867,228 (GRCm39) |
F402L |
probably benign |
Het |
| Trav4-2 |
T |
C |
14: 53,656,190 (GRCm39) |
I64T |
probably benign |
Het |
| Trav4-4-dv10 |
A |
G |
14: 53,921,574 (GRCm39) |
T91A |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
| Zfp551 |
C |
A |
7: 12,156,559 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in AU040320 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:AU040320
|
APN |
4 |
126,686,027 (GRCm39) |
missense |
probably benign |
|
|
IGL00835:AU040320
|
APN |
4 |
126,650,864 (GRCm39) |
splice site |
probably null |
|
|
IGL00964:AU040320
|
APN |
4 |
126,748,199 (GRCm39) |
nonsense |
probably null |
|
|
IGL00978:AU040320
|
APN |
4 |
126,722,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01396:AU040320
|
APN |
4 |
126,763,171 (GRCm39) |
intron |
probably benign |
|
|
IGL02129:AU040320
|
APN |
4 |
126,717,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:AU040320
|
APN |
4 |
126,733,469 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02179:AU040320
|
APN |
4 |
126,729,405 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02696:AU040320
|
APN |
4 |
126,736,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:AU040320
|
UTSW |
4 |
126,686,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0063:AU040320
|
UTSW |
4 |
126,733,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:AU040320
|
UTSW |
4 |
126,733,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:AU040320
|
UTSW |
4 |
126,731,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:AU040320
|
UTSW |
4 |
126,742,677 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1165:AU040320
|
UTSW |
4 |
126,717,433 (GRCm39) |
splice site |
probably benign |
|
|
R1216:AU040320
|
UTSW |
4 |
126,710,276 (GRCm39) |
splice site |
probably benign |
|
|
R1464:AU040320
|
UTSW |
4 |
126,685,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1464:AU040320
|
UTSW |
4 |
126,685,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1751:AU040320
|
UTSW |
4 |
126,734,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:AU040320
|
UTSW |
4 |
126,734,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:AU040320
|
UTSW |
4 |
126,747,073 (GRCm39) |
splice site |
probably null |
|
|
R2173:AU040320
|
UTSW |
4 |
126,686,069 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2414:AU040320
|
UTSW |
4 |
126,762,484 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4061:AU040320
|
UTSW |
4 |
126,729,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4354:AU040320
|
UTSW |
4 |
126,748,192 (GRCm39) |
unclassified |
probably benign |
|
|
R4751:AU040320
|
UTSW |
4 |
126,748,259 (GRCm39) |
splice site |
probably null |
|
|
R4790:AU040320
|
UTSW |
4 |
126,741,008 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4799:AU040320
|
UTSW |
4 |
126,733,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4825:AU040320
|
UTSW |
4 |
126,685,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:AU040320
|
UTSW |
4 |
126,747,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:AU040320
|
UTSW |
4 |
126,729,469 (GRCm39) |
nonsense |
probably null |
|
|
R5085:AU040320
|
UTSW |
4 |
126,722,664 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5320:AU040320
|
UTSW |
4 |
126,717,509 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5410:AU040320
|
UTSW |
4 |
126,717,509 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5543:AU040320
|
UTSW |
4 |
126,735,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:AU040320
|
UTSW |
4 |
126,685,939 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5729:AU040320
|
UTSW |
4 |
126,724,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:AU040320
|
UTSW |
4 |
126,708,064 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6123:AU040320
|
UTSW |
4 |
126,763,179 (GRCm39) |
intron |
probably benign |
|
|
R6456:AU040320
|
UTSW |
4 |
126,736,284 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6523:AU040320
|
UTSW |
4 |
126,762,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6591:AU040320
|
UTSW |
4 |
126,730,463 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6603:AU040320
|
UTSW |
4 |
126,686,046 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6664:AU040320
|
UTSW |
4 |
126,729,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6691:AU040320
|
UTSW |
4 |
126,730,463 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6864:AU040320
|
UTSW |
4 |
126,741,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6891:AU040320
|
UTSW |
4 |
126,740,231 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6895:AU040320
|
UTSW |
4 |
126,685,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:AU040320
|
UTSW |
4 |
126,685,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7351:AU040320
|
UTSW |
4 |
126,710,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7453:AU040320
|
UTSW |
4 |
126,729,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7467:AU040320
|
UTSW |
4 |
126,708,103 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7492:AU040320
|
UTSW |
4 |
126,741,648 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7513:AU040320
|
UTSW |
4 |
126,686,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7702:AU040320
|
UTSW |
4 |
126,708,166 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7733:AU040320
|
UTSW |
4 |
126,729,322 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8079:AU040320
|
UTSW |
4 |
126,725,953 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8430:AU040320
|
UTSW |
4 |
126,742,693 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9328:AU040320
|
UTSW |
4 |
126,729,332 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9501:AU040320
|
UTSW |
4 |
126,735,032 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9721:AU040320
|
UTSW |
4 |
126,733,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:AU040320
|
UTSW |
4 |
126,736,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAACTGCTGTGCTCAGGG -3'
(R):5'- TCGGTCATGCACAAAGGAG -3'
Sequencing Primer
(F):5'- TCAGGGGCTTGGCTCTC -3'
(R):5'- TCTGCCTGCCTGACACACTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation