Incidental Mutation 'R7513:AU040320'
| ID |
582212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
045586-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126686057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 211
(E211G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
[ENSMUST00000132660]
[ENSMUST00000148935]
[ENSMUST00000154640]
|
| AlphaFold |
Q8K135 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047431
AA Change: E211G
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: E211G
| 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 |
probably benign
Transcript: ENSMUST00000102607
AA Change: E211G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: E211G
| 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 |
probably benign
Transcript: ENSMUST00000102608
AA Change: E211G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: E211G
| 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 |
probably benign
Transcript: ENSMUST00000132660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148935
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154640
|
| SMART Domains |
Protein: ENSMUSP00000122352
Gene: ENSMUSG00000028830
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,765,771 (GRCm39) |
W694* |
probably null |
Het |
| Accs |
T |
C |
2: 93,670,437 (GRCm39) |
N256S |
possibly damaging |
Het |
| Agmo |
C |
T |
12: 37,294,352 (GRCm39) |
T100I |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,670 (GRCm39) |
D341G |
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,409,911 (GRCm39) |
E345V |
possibly damaging |
Het |
| Arl5a |
A |
G |
2: 52,302,157 (GRCm39) |
F86L |
possibly damaging |
Het |
| B020011L13Rik |
T |
A |
1: 117,729,149 (GRCm39) |
C219S |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,955,803 (GRCm39) |
L579Q |
probably benign |
Het |
| Cd84 |
T |
A |
1: 171,712,185 (GRCm39) |
V267E |
probably benign |
Het |
| Cdcp3 |
G |
A |
7: 130,873,800 (GRCm39) |
G1709R |
unknown |
Het |
| Clec11a |
T |
C |
7: 43,955,780 (GRCm39) |
E89G |
probably benign |
Het |
| Csrnp2 |
C |
A |
15: 100,380,297 (GRCm39) |
E331D |
probably benign |
Het |
| Cyp2d12 |
C |
A |
15: 82,442,621 (GRCm39) |
H355N |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,385,365 (GRCm39) |
G413* |
probably null |
Het |
| Dhx38 |
G |
A |
8: 110,287,221 (GRCm39) |
P249L |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,149,069 (GRCm39) |
M233K |
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,105,629 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,692,242 (GRCm39) |
S1003P |
unknown |
Het |
| Dna2 |
A |
G |
10: 62,807,747 (GRCm39) |
D1033G |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,370,561 (GRCm39) |
S2834P |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,163,506 (GRCm39) |
S437A |
probably benign |
Het |
| Eif5 |
A |
T |
12: 111,506,686 (GRCm39) |
I93F |
probably damaging |
Het |
| Fbxo47 |
A |
G |
11: 97,747,055 (GRCm39) |
F337S |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,546,941 (GRCm39) |
I1086T |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,523,220 (GRCm39) |
R497* |
probably null |
Het |
| Igfn1 |
T |
G |
1: 135,887,705 (GRCm39) |
D2453A |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,252,471 (GRCm39) |
L27Q |
|
Het |
| Jak1 |
C |
T |
4: 101,048,848 (GRCm39) |
C10Y |
probably damaging |
Het |
| Kif7 |
T |
A |
7: 79,360,776 (GRCm39) |
N200Y |
possibly damaging |
Het |
| Ktn1 |
G |
C |
14: 47,901,541 (GRCm39) |
A100P |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,843,497 (GRCm39) |
D136G |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,046,683 (GRCm39) |
L648P |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,294,952 (GRCm39) |
I3116V |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,508,128 (GRCm39) |
D418V |
probably damaging |
Het |
| Mrpl24 |
A |
T |
3: 87,829,734 (GRCm39) |
T107S |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,394,382 (GRCm39) |
D296V |
probably damaging |
Het |
| Mycn |
C |
A |
12: 12,989,743 (GRCm39) |
A218S |
probably benign |
Het |
| Myo1f |
G |
T |
17: 33,794,788 (GRCm39) |
W9C |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,332,635 (GRCm39) |
K1074N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Nhsl1 |
T |
C |
10: 18,399,700 (GRCm39) |
S275P |
probably damaging |
Het |
| Or2d3c |
A |
G |
7: 106,526,483 (GRCm39) |
F61S |
possibly damaging |
Het |
| Or5k16 |
T |
A |
16: 58,736,295 (GRCm39) |
K236N |
probably damaging |
Het |
| Pam |
G |
A |
1: 97,780,910 (GRCm39) |
P514S |
possibly damaging |
Het |
| Pcdha4 |
C |
T |
18: 37,086,392 (GRCm39) |
L192F |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,996,397 (GRCm39) |
D800E |
probably benign |
Het |
| Plcg2 |
C |
A |
8: 118,306,592 (GRCm39) |
N315K |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,042,525 (GRCm39) |
|
probably null |
Het |
| Pnpla1 |
A |
G |
17: 29,077,781 (GRCm39) |
|
probably benign |
Het |
| Pptc7 |
A |
T |
5: 122,446,192 (GRCm39) |
|
probably null |
Het |
| Psg26 |
G |
T |
7: 18,209,225 (GRCm39) |
S394R |
probably benign |
Het |
| Psmc1 |
C |
A |
12: 100,081,773 (GRCm39) |
T125K |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,067,203 (GRCm39) |
M125L |
probably benign |
Het |
| Rbms1 |
A |
G |
2: 60,589,165 (GRCm39) |
Y323H |
probably damaging |
Het |
| Rgl2 |
G |
A |
17: 34,151,529 (GRCm39) |
R191Q |
probably benign |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Sirpb1b |
C |
A |
3: 15,607,200 (GRCm39) |
E361* |
probably null |
Het |
| Slc13a4 |
A |
T |
6: 35,260,272 (GRCm39) |
|
probably null |
Het |
| Spag9 |
T |
C |
11: 94,002,909 (GRCm39) |
S1140P |
probably damaging |
Het |
| Spata31e4 |
T |
A |
13: 50,856,909 (GRCm39) |
I849N |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,469,084 (GRCm39) |
N305D |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,942,727 (GRCm39) |
A1314V |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,866,324 (GRCm39) |
T81A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,085,399 (GRCm39) |
V839A |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,837,492 (GRCm39) |
I606T |
probably damaging |
Het |
| Tox |
T |
A |
4: 6,741,507 (GRCm39) |
M158L |
probably benign |
Het |
| Trpc2 |
A |
T |
7: 101,739,275 (GRCm39) |
M549L |
probably damaging |
Het |
| Trpm5 |
C |
T |
7: 142,635,572 (GRCm39) |
R600Q |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,131,367 (GRCm39) |
N302D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,681,940 (GRCm39) |
R1019H |
|
Het |
| Ttn |
G |
T |
2: 76,775,307 (GRCm39) |
H1958N |
unknown |
Het |
| Usp32 |
A |
T |
11: 84,917,938 (GRCm39) |
Y769* |
probably null |
Het |
| Vim |
A |
T |
2: 13,583,443 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,994 (GRCm39) |
H233R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,108 (GRCm39) |
H1116Q |
possibly damaging |
Het |
| Zc3h18 |
G |
T |
8: 123,134,993 (GRCm39) |
R580L |
unknown |
Het |
| Zfp267 |
T |
A |
3: 36,218,792 (GRCm39) |
F272I |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,676 (GRCm39) |
C409S |
unknown |
Het |
| Zfy1 |
A |
T |
Y: 759,852 (GRCm39) |
I20K |
unknown |
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 |
|
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 |
|
R8984:AU040320
|
UTSW |
4 |
126,734,936 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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'- CCAAACTACAGATGATTTGGGC -3'
(R):5'- AGGACCTCTGAAGAAATGCC -3'
Sequencing Primer
(F):5'- TGAACCACATCTTCTGAGGCTAGG -3'
(R):5'- ATGCCAGCCAGCTTTACG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation