Incidental Mutation 'R7702:AU040320'
| ID |
594047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
045763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7702 (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 A
at 126708166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 261
(S261T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
| AlphaFold |
Q8K135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047431
AA Change: S261T
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: S261T
| 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: S261T
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: S261T
| 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: S261T
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: S261T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,167,278 (GRCm39) |
|
probably null |
Het |
| Banp |
T |
A |
8: 122,705,326 (GRCm39) |
C65* |
probably null |
Het |
| Bloc1s5 |
T |
C |
13: 38,787,850 (GRCm39) |
D178G |
probably benign |
Het |
| Cacna1c |
A |
G |
6: 118,575,727 (GRCm39) |
F1941L |
|
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,063 (GRCm39) |
K214E |
probably benign |
Het |
| Cd48 |
A |
G |
1: 171,523,348 (GRCm39) |
I64V |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,135,501 (GRCm39) |
S21P |
probably benign |
Het |
| Cidec |
A |
G |
6: 113,411,415 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Col12a1 |
C |
G |
9: 79,588,803 (GRCm39) |
R1104T |
probably damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 122,006,648 (GRCm39) |
D874G |
possibly damaging |
Het |
| Dbnl |
C |
T |
11: 5,748,048 (GRCm39) |
L298F |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,032,866 (GRCm39) |
V390F |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,304 (GRCm39) |
D486G |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,916,466 (GRCm39) |
I4236V |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,857,274 (GRCm39) |
D406E |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,359,183 (GRCm39) |
A318V |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,160,120 (GRCm39) |
L745P |
possibly damaging |
Het |
| Ell |
C |
A |
8: 70,992,364 (GRCm39) |
A3E |
possibly damaging |
Het |
| Fer1l5 |
T |
A |
1: 36,459,775 (GRCm39) |
L1832* |
probably null |
Het |
| Filip1 |
G |
T |
9: 79,727,931 (GRCm39) |
N229K |
probably benign |
Het |
| Flg |
A |
T |
3: 93,200,089 (GRCm39) |
H195L |
unknown |
Het |
| Fndc7 |
G |
T |
3: 108,770,129 (GRCm39) |
P685H |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,412,116 (GRCm39) |
N120S |
probably benign |
Het |
| Gm4952 |
A |
T |
19: 12,604,428 (GRCm39) |
H280L |
probably benign |
Het |
| Golim4 |
A |
T |
3: 75,794,091 (GRCm39) |
D551E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hmbs |
A |
C |
9: 44,248,147 (GRCm39) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,273,054 (GRCm39) |
D474G |
probably benign |
Het |
| Ipo4 |
A |
C |
14: 55,869,787 (GRCm39) |
H343Q |
probably damaging |
Het |
| Jade2 |
C |
T |
11: 51,707,744 (GRCm39) |
R823H |
probably damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,274,841 (GRCm39) |
T453I |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,478,689 (GRCm39) |
S199P |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,166 (GRCm39) |
Y105N |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,756,827 (GRCm39) |
T394N |
probably damaging |
Het |
| Megf6 |
G |
A |
4: 154,354,927 (GRCm39) |
D1445N |
probably benign |
Het |
| Mmp21 |
A |
G |
7: 133,280,791 (GRCm39) |
Y60H |
probably damaging |
Het |
| Mylk4 |
C |
T |
13: 32,904,585 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
A |
T |
9: 108,691,216 (GRCm39) |
R38* |
probably null |
Het |
| Nob1 |
G |
A |
8: 108,139,737 (GRCm39) |
R341* |
probably null |
Het |
| Or11g25 |
A |
G |
14: 50,723,751 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or1e19 |
T |
A |
11: 73,324,175 (GRCm39) |
|
probably benign |
Het |
| Or5ac22 |
A |
G |
16: 59,134,997 (GRCm39) |
Y258H |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,336,569 (GRCm39) |
L22P |
unknown |
Het |
| Pebp4 |
T |
A |
14: 70,297,056 (GRCm39) |
N198K |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,138,757 (GRCm39) |
S336P |
probably damaging |
Het |
| Prr5l |
T |
A |
2: 101,547,442 (GRCm39) |
D361V |
probably benign |
Het |
| Ralgapa1 |
C |
G |
12: 55,756,340 (GRCm39) |
V1086L |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,756,341 (GRCm39) |
Q1085H |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,705,219 (GRCm39) |
N2849S |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,820,915 (GRCm39) |
L223H |
probably damaging |
Het |
| Sqstm1 |
T |
G |
11: 50,096,932 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,195,835 (GRCm39) |
E3945G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,037,161 (GRCm39) |
Y3780C |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,140,236 (GRCm39) |
Y840H |
probably damaging |
Het |
| Tmem183a |
T |
C |
1: 134,288,539 (GRCm39) |
Q108R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,345,415 (GRCm39) |
C95S |
probably benign |
Het |
| Trappc8 |
C |
T |
18: 20,958,119 (GRCm39) |
V1250I |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,032,461 (GRCm39) |
V649A |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vmn1r123 |
A |
C |
7: 20,896,302 (GRCm39) |
T65P |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,553 (GRCm39) |
H328Q |
possibly damaging |
Het |
| Zeb1 |
T |
C |
18: 5,766,802 (GRCm39) |
S438P |
probably damaging |
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 |
|
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'- CCATTGAATCTGTGGTTCTTGC -3'
(R):5'- GCCCACATTTTCAGAGGCTC -3'
Sequencing Primer
(F):5'- GCCTGCTGCACTTAGTCTTTCATAC -3'
(R):5'- CACATTTTCAGAGGCTCGGACAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation