Incidental Mutation 'R5410:AU040320'
ID |
426489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AU040320
|
Ensembl Gene |
ENSMUSG00000028830 |
Gene Name |
expressed sequence AU040320 |
Synonyms |
|
MMRRC Submission |
042979-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5410 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126717509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 362
(H362L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
AlphaFold |
Q8K135 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047431
AA Change: H362L
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000037802 Gene: ENSMUSG00000028830 AA Change: H362L
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: H362L
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099667 Gene: ENSMUSG00000028830 AA Change: H362L
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: H362L
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099668 Gene: ENSMUSG00000028830 AA Change: H362L
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 |
noncoding transcript
Transcript: ENSMUST00000141918
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.8%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam24 |
A |
G |
8: 41,134,103 (GRCm39) |
M524V |
probably benign |
Het |
Adamts20 |
T |
A |
15: 94,179,838 (GRCm39) |
N1788I |
possibly damaging |
Het |
Arfgef3 |
T |
G |
10: 18,486,985 (GRCm39) |
I1350L |
probably damaging |
Het |
Arhgap17 |
A |
G |
7: 122,896,716 (GRCm39) |
|
probably null |
Het |
Ascl5 |
A |
T |
1: 135,978,926 (GRCm39) |
I129F |
probably damaging |
Het |
Bpifb9a |
A |
T |
2: 154,112,155 (GRCm39) |
N564Y |
probably benign |
Het |
Cdon |
G |
T |
9: 35,381,331 (GRCm39) |
D574Y |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Ces1e |
T |
A |
8: 93,937,070 (GRCm39) |
I334F |
possibly damaging |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Cntn3 |
T |
A |
6: 102,255,314 (GRCm39) |
T195S |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,442,612 (GRCm39) |
H3221Q |
probably benign |
Het |
Cyp2c68 |
T |
C |
19: 39,687,728 (GRCm39) |
D423G |
possibly damaging |
Het |
Dennd3 |
C |
T |
15: 73,419,297 (GRCm39) |
T696M |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,533,055 (GRCm39) |
M1704T |
unknown |
Het |
Exoc2 |
A |
G |
13: 31,048,839 (GRCm39) |
F738S |
probably damaging |
Het |
Fis1 |
A |
G |
5: 136,994,420 (GRCm39) |
E36G |
probably damaging |
Het |
Galnt1 |
A |
G |
18: 24,400,604 (GRCm39) |
I237V |
probably benign |
Het |
Gspt1 |
A |
T |
16: 11,048,374 (GRCm39) |
I416N |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hykk |
G |
A |
9: 54,853,350 (GRCm39) |
C224Y |
probably damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,829 (GRCm39) |
T111A |
probably benign |
Het |
Il17rd |
T |
C |
14: 26,817,868 (GRCm39) |
Y186H |
probably damaging |
Het |
Klhl29 |
G |
T |
12: 5,141,366 (GRCm39) |
N539K |
probably benign |
Het |
Lmbr1l |
T |
C |
15: 98,807,143 (GRCm39) |
T213A |
probably damaging |
Het |
Madd |
C |
T |
2: 90,984,859 (GRCm39) |
R1318Q |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,051,870 (GRCm39) |
A182S |
probably benign |
Het |
Or13c25 |
C |
A |
4: 52,910,991 (GRCm39) |
A268S |
probably benign |
Het |
Or1e1 |
C |
T |
11: 73,244,632 (GRCm39) |
P18S |
probably benign |
Het |
Or4f56 |
C |
T |
2: 111,703,637 (GRCm39) |
A188T |
probably damaging |
Het |
Or52z1 |
A |
T |
7: 103,436,581 (GRCm39) |
V301E |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
Pdia5 |
A |
G |
16: 35,273,906 (GRCm39) |
V130A |
probably damaging |
Het |
Phldb2 |
T |
A |
16: 45,645,975 (GRCm39) |
H202L |
possibly damaging |
Het |
Ppig |
G |
A |
2: 69,566,241 (GRCm39) |
G136E |
probably null |
Het |
Prr14l |
C |
A |
5: 32,985,121 (GRCm39) |
R1458L |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,205,019 (GRCm39) |
Y714C |
probably damaging |
Het |
Ptprr |
T |
C |
10: 116,024,235 (GRCm39) |
V182A |
possibly damaging |
Het |
Rai14 |
A |
G |
15: 10,575,024 (GRCm39) |
Y645H |
probably damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,804,042 (GRCm39) |
I115T |
probably benign |
Het |
Rc3h1 |
G |
T |
1: 160,792,533 (GRCm39) |
R990L |
possibly damaging |
Het |
Rdh5 |
T |
A |
10: 128,754,160 (GRCm39) |
Q21L |
probably benign |
Het |
Rfx8 |
A |
G |
1: 39,749,316 (GRCm39) |
|
probably null |
Het |
Scap |
A |
G |
9: 110,203,250 (GRCm39) |
|
probably null |
Het |
Shank1 |
T |
A |
7: 44,001,246 (GRCm39) |
S988R |
unknown |
Het |
Slc16a14 |
T |
A |
1: 84,885,145 (GRCm39) |
I465F |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,117,232 (GRCm39) |
|
probably null |
Het |
Tab2 |
T |
C |
10: 7,795,585 (GRCm39) |
H225R |
possibly damaging |
Het |
Tbx19 |
T |
A |
1: 164,987,941 (GRCm39) |
N64I |
probably damaging |
Het |
Tmprss11f |
A |
T |
5: 86,677,965 (GRCm39) |
I268K |
probably damaging |
Het |
Tox2 |
A |
G |
2: 163,162,293 (GRCm39) |
M388V |
probably benign |
Het |
Trbv17 |
T |
C |
6: 41,140,472 (GRCm39) |
L109P |
probably damaging |
Het |
Trim72 |
A |
G |
7: 127,609,095 (GRCm39) |
H299R |
probably damaging |
Het |
Ulbp3 |
G |
A |
10: 3,076,473 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r63 |
C |
T |
7: 5,806,189 (GRCm39) |
V148I |
possibly damaging |
Het |
Zfp938 |
A |
C |
10: 82,061,092 (GRCm39) |
H509Q |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,657,739 (GRCm39) |
V724A |
probably benign |
Het |
Zscan10 |
T |
C |
17: 23,829,395 (GRCm39) |
F569L |
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 |
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 |
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'- GGCTTTGGGGTAGGATCTTAAAAC -3'
(R):5'- TAAACAAACACTGGCTGTCCG -3'
Sequencing Primer
(F):5'- CTTAAAACTAAGGCTTTGTCAGGG -3'
(R):5'- CCGCCATGGTGACTTTCTGAAG -3'
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Posted On |
2016-09-01 |