Incidental Mutation 'R6891:AU040320'
ID |
537200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AU040320
|
Ensembl Gene |
ENSMUSG00000028830 |
Gene Name |
expressed sequence AU040320 |
Synonyms |
|
MMRRC Submission |
044985-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6891 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 126740231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 864
(S864I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
AlphaFold |
Q8K135 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047431
AA Change: S864I
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037802 Gene: ENSMUSG00000028830 AA Change: S864I
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: S864I
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099667 Gene: ENSMUSG00000028830 AA Change: S864I
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: S864I
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099668 Gene: ENSMUSG00000028830 AA Change: S864I
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: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (72/74) |
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 |
Actl11 |
C |
T |
9: 107,806,346 (GRCm39) |
A223V |
probably benign |
Het |
Agbl5 |
G |
T |
5: 31,052,522 (GRCm39) |
R61L |
probably damaging |
Het |
Agmat |
A |
T |
4: 141,483,192 (GRCm39) |
T209S |
probably benign |
Het |
Ankrd34a |
G |
A |
3: 96,505,335 (GRCm39) |
V180I |
probably benign |
Het |
Anks1 |
C |
T |
17: 28,276,398 (GRCm39) |
T1047M |
probably damaging |
Het |
Arhgap21 |
T |
A |
2: 20,855,142 (GRCm39) |
I1407F |
probably damaging |
Het |
Armc1 |
C |
A |
3: 19,189,205 (GRCm39) |
C183F |
probably damaging |
Het |
Atg13 |
A |
G |
2: 91,516,136 (GRCm39) |
M196T |
probably benign |
Het |
Btn2a2 |
T |
C |
13: 23,667,014 (GRCm39) |
D197G |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,325,706 (GRCm39) |
I208T |
probably benign |
Het |
Cbs |
T |
A |
17: 31,841,431 (GRCm39) |
R263S |
probably damaging |
Het |
Ccdc7a |
C |
A |
8: 129,753,119 (GRCm39) |
R204L |
probably damaging |
Het |
Cdhr1 |
A |
T |
14: 36,819,334 (GRCm39) |
|
probably null |
Het |
Cers4 |
G |
A |
8: 4,573,731 (GRCm39) |
R378Q |
probably damaging |
Het |
Chst1 |
T |
G |
2: 92,444,088 (GRCm39) |
L187V |
probably benign |
Het |
Clec4e |
A |
T |
6: 123,260,565 (GRCm39) |
N164K |
probably damaging |
Het |
Cln3 |
T |
A |
7: 126,181,975 (GRCm39) |
D29V |
possibly damaging |
Het |
Crybg2 |
A |
G |
4: 133,809,148 (GRCm39) |
S187G |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,286,096 (GRCm39) |
N285K |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,387,664 (GRCm39) |
I58T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,829,135 (GRCm39) |
Y1007C |
probably damaging |
Het |
Eral1 |
C |
T |
11: 77,966,559 (GRCm39) |
V234I |
possibly damaging |
Het |
Fads2b |
C |
A |
2: 85,319,149 (GRCm39) |
M384I |
possibly damaging |
Het |
Fads2b |
T |
G |
2: 85,319,157 (GRCm39) |
T382P |
probably damaging |
Het |
Fam161b |
A |
G |
12: 84,401,554 (GRCm39) |
F400S |
probably damaging |
Het |
Fmnl3 |
T |
C |
15: 99,223,754 (GRCm39) |
D314G |
probably damaging |
Het |
Foxred2 |
A |
T |
15: 77,839,909 (GRCm39) |
L127Q |
probably damaging |
Het |
Gjd2 |
G |
A |
2: 113,843,575 (GRCm39) |
A14V |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,766,173 (GRCm39) |
|
probably null |
Het |
Gpr151 |
T |
A |
18: 42,711,985 (GRCm39) |
D231V |
probably benign |
Het |
Gzf1 |
A |
T |
2: 148,526,689 (GRCm39) |
K387* |
probably null |
Het |
Hfm1 |
T |
A |
5: 107,065,240 (GRCm39) |
K146N |
possibly damaging |
Het |
Hgf |
G |
A |
5: 16,809,920 (GRCm39) |
|
probably null |
Het |
Isoc2b |
A |
G |
7: 4,854,487 (GRCm39) |
S15P |
probably damaging |
Het |
Itga5 |
A |
G |
15: 103,265,970 (GRCm39) |
S126P |
probably damaging |
Het |
Kat6b |
A |
G |
14: 21,719,104 (GRCm39) |
D1152G |
probably benign |
Het |
Kcna4 |
C |
T |
2: 107,126,652 (GRCm39) |
S462F |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,394,168 (GRCm39) |
C902S |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,204,068 (GRCm39) |
C523* |
probably null |
Het |
Lama2 |
G |
C |
10: 27,204,078 (GRCm39) |
S520* |
probably null |
Het |
Ltf |
T |
C |
9: 110,854,181 (GRCm39) |
V332A |
probably benign |
Het |
Mapkap1 |
T |
C |
2: 34,453,153 (GRCm39) |
F349L |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,983,937 (GRCm39) |
N188D |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,631,252 (GRCm39) |
S730P |
possibly damaging |
Het |
Mrgprd |
T |
A |
7: 144,876,087 (GRCm39) |
D319E |
probably benign |
Het |
Mrps9 |
C |
A |
1: 42,944,573 (GRCm39) |
L364I |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,487,673 (GRCm39) |
R626C |
probably damaging |
Het |
Nme3 |
T |
C |
17: 25,115,829 (GRCm39) |
S61P |
probably benign |
Het |
Or2g1 |
A |
G |
17: 38,106,395 (GRCm39) |
Q20R |
probably benign |
Het |
Or52e18 |
A |
G |
7: 104,609,192 (GRCm39) |
I249T |
probably damaging |
Het |
Pald1 |
A |
G |
10: 61,184,311 (GRCm39) |
|
probably null |
Het |
Papola |
A |
T |
12: 105,775,950 (GRCm39) |
|
probably benign |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Plch1 |
T |
C |
3: 63,605,504 (GRCm39) |
T1458A |
probably benign |
Het |
Polr3e |
A |
G |
7: 120,543,873 (GRCm39) |
Q659R |
probably damaging |
Het |
Pramel38 |
C |
A |
5: 94,365,978 (GRCm39) |
P32Q |
probably damaging |
Het |
Shoc2 |
T |
C |
19: 53,976,548 (GRCm39) |
V146A |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,713,442 (GRCm39) |
T362A |
probably benign |
Het |
Smpd3 |
A |
G |
8: 106,991,300 (GRCm39) |
Y418H |
probably damaging |
Het |
Sorcs1 |
A |
T |
19: 50,213,557 (GRCm39) |
C723* |
probably null |
Het |
Supt7l |
T |
A |
5: 31,680,365 (GRCm39) |
N16Y |
probably damaging |
Het |
Syngr2 |
T |
C |
11: 117,703,499 (GRCm39) |
V105A |
probably damaging |
Het |
Thrb |
T |
A |
14: 17,981,899 (GRCm38) |
V8E |
probably benign |
Het |
Tlx1 |
A |
T |
19: 45,139,757 (GRCm39) |
I135F |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,887,417 (GRCm39) |
I36T |
probably damaging |
Het |
Troap |
A |
G |
15: 98,980,569 (GRCm39) |
Y583C |
possibly damaging |
Het |
Usp17lb |
T |
C |
7: 104,490,307 (GRCm39) |
K207E |
probably benign |
Het |
Vmn2r10 |
C |
T |
5: 109,149,845 (GRCm39) |
V400M |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,240,590 (GRCm39) |
|
probably null |
Het |
Wdr64 |
G |
T |
1: 175,533,634 (GRCm39) |
W90L |
probably damaging |
Het |
Yme1l1 |
A |
G |
2: 23,085,401 (GRCm39) |
E662G |
probably damaging |
Het |
Zfp334 |
C |
T |
2: 165,224,644 (GRCm39) |
V68I |
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 |
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'- TCACAGACACAGGGTGAGTTG -3'
(R):5'- TCAAATCTTAGGGCGATGGTG -3'
Sequencing Primer
(F):5'- GAAGATGTGGCTAGGGCTGCTAC -3'
(R):5'- CAAATCTTAGGGCGATGGTGAATTAG -3'
|
Posted On |
2018-10-18 |