Incidental Mutation 'R2173:AU040320'
ID |
237609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AU040320
|
Ensembl Gene |
ENSMUSG00000028830 |
Gene Name |
expressed sequence AU040320 |
Synonyms |
|
MMRRC Submission |
040175-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2173 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126686069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 215
(L215P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
[ENSMUST00000132660]
[ENSMUST00000148935]
[ENSMUST00000154640]
|
AlphaFold |
Q8K135 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047431
AA Change: L215P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037802 Gene: ENSMUSG00000028830 AA Change: L215P
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: L215P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000099667 Gene: ENSMUSG00000028830 AA Change: L215P
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: L215P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000099668 Gene: ENSMUSG00000028830 AA Change: L215P
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: ENSMUST00000118333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131900
|
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 |
|
Meta Mutation Damage Score |
0.0696 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
97% (66/68) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
T |
A |
3: 127,477,239 (GRCm39) |
H273L |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,726,648 (GRCm39) |
Y111C |
probably damaging |
Het |
Anapc2 |
T |
G |
2: 25,163,288 (GRCm39) |
V175G |
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,235,335 (GRCm39) |
S570P |
probably damaging |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Ccdc65 |
A |
G |
15: 98,618,914 (GRCm39) |
N298D |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,458,630 (GRCm39) |
N727Y |
probably benign |
Het |
Clcn7 |
A |
G |
17: 25,364,583 (GRCm39) |
H63R |
probably benign |
Het |
Corin |
A |
T |
5: 72,661,422 (GRCm39) |
C24S |
probably benign |
Het |
Cyp1a2 |
A |
G |
9: 57,584,798 (GRCm39) |
W419R |
probably damaging |
Het |
Dlgap4 |
C |
A |
2: 156,604,732 (GRCm39) |
A256D |
probably damaging |
Het |
Eif4enif1 |
A |
G |
11: 3,192,367 (GRCm39) |
|
probably null |
Het |
Eri2 |
A |
G |
7: 119,385,766 (GRCm39) |
V245A |
possibly damaging |
Het |
Erich6b |
T |
C |
14: 75,896,332 (GRCm39) |
F73L |
probably benign |
Het |
Fam110a |
A |
G |
2: 151,812,429 (GRCm39) |
C114R |
probably damaging |
Het |
Fam149a |
T |
C |
8: 45,806,991 (GRCm39) |
D288G |
probably damaging |
Het |
Fam171a1 |
T |
A |
2: 3,226,656 (GRCm39) |
Y596* |
probably null |
Het |
Fsd1 |
A |
G |
17: 56,298,223 (GRCm39) |
T183A |
possibly damaging |
Het |
Fut10 |
T |
A |
8: 31,726,159 (GRCm39) |
Y305N |
probably damaging |
Het |
Ganab |
A |
T |
19: 8,879,624 (GRCm39) |
|
probably benign |
Het |
Gm9922 |
G |
T |
14: 101,967,012 (GRCm39) |
|
probably benign |
Het |
Gp9 |
A |
G |
6: 87,756,035 (GRCm39) |
T17A |
probably benign |
Het |
Gxylt2 |
T |
C |
6: 100,775,115 (GRCm39) |
Y345H |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,835,699 (GRCm39) |
H3269R |
probably benign |
Het |
Hpx |
A |
T |
7: 105,241,290 (GRCm39) |
S374T |
probably benign |
Het |
Hspa5 |
T |
C |
2: 34,664,674 (GRCm39) |
V376A |
probably damaging |
Het |
Hyi |
T |
C |
4: 118,219,381 (GRCm39) |
|
probably benign |
Het |
Impdh2 |
G |
A |
9: 108,442,593 (GRCm39) |
|
probably null |
Het |
Kremen2 |
A |
C |
17: 23,961,770 (GRCm39) |
W246G |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,818 (GRCm39) |
V259A |
probably damaging |
Het |
L3mbtl4 |
A |
T |
17: 68,894,188 (GRCm39) |
H398L |
probably damaging |
Het |
Lama5 |
C |
A |
2: 179,838,035 (GRCm39) |
V894L |
probably benign |
Het |
Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
Nup153 |
A |
T |
13: 46,855,076 (GRCm39) |
|
probably benign |
Het |
Or10g6 |
T |
G |
9: 39,934,550 (GRCm39) |
I287S |
probably damaging |
Het |
Or2y15 |
G |
T |
11: 49,350,967 (GRCm39) |
V154L |
probably benign |
Het |
Or5k14 |
A |
G |
16: 58,692,982 (GRCm39) |
F177S |
probably damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,240 (GRCm39) |
I180V |
probably benign |
Het |
Or9r7 |
G |
A |
10: 129,962,372 (GRCm39) |
P185S |
probably benign |
Het |
Otof |
C |
T |
5: 30,543,718 (GRCm39) |
R582H |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,395,093 (GRCm39) |
S543P |
probably damaging |
Het |
Pde6a |
A |
G |
18: 61,387,453 (GRCm39) |
D448G |
probably damaging |
Het |
Phgdh |
A |
G |
3: 98,222,427 (GRCm39) |
V388A |
probably benign |
Het |
Plin3 |
G |
T |
17: 56,586,891 (GRCm39) |
D385E |
possibly damaging |
Het |
Polg |
G |
T |
7: 79,105,341 (GRCm39) |
D734E |
probably damaging |
Het |
Pomt1 |
T |
C |
2: 32,140,912 (GRCm39) |
Y515H |
probably damaging |
Het |
Prr35 |
A |
C |
17: 26,167,461 (GRCm39) |
H25Q |
probably damaging |
Het |
Pwwp2a |
G |
A |
11: 43,573,313 (GRCm39) |
A132T |
probably benign |
Het |
Rbm6 |
A |
T |
9: 107,729,390 (GRCm39) |
F419L |
possibly damaging |
Het |
Rfx5 |
A |
G |
3: 94,864,027 (GRCm39) |
|
probably null |
Het |
Rnf135 |
G |
A |
11: 80,080,066 (GRCm39) |
S119N |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,433,862 (GRCm39) |
D51E |
probably benign |
Het |
Smox |
A |
T |
2: 131,353,944 (GRCm39) |
E5D |
possibly damaging |
Het |
Srpk2 |
T |
C |
5: 23,723,613 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
A |
12: 76,147,763 (GRCm39) |
|
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,738,893 (GRCm39) |
S853P |
possibly damaging |
Het |
Tmem131l |
A |
G |
3: 83,833,452 (GRCm39) |
F804L |
probably damaging |
Het |
Ttll8 |
A |
G |
15: 88,798,800 (GRCm39) |
L645P |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,727,743 (GRCm39) |
H35Q |
probably benign |
Het |
Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
Vmn2r70 |
A |
T |
7: 85,214,290 (GRCm39) |
H287Q |
probably benign |
Het |
Vps26a |
A |
T |
10: 62,304,171 (GRCm39) |
I150N |
probably damaging |
Het |
Zfp605 |
G |
A |
5: 110,275,323 (GRCm39) |
R147H |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,631,596 (GRCm39) |
M1333T |
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 |
|
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 |
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'- ACATCTTCTGAGGCTAGGCTGG -3'
(R):5'- CGCTCTAACGAAAACAGTTGTC -3'
Sequencing Primer
(F):5'- TAGGCTGGGGCAGGACATC -3'
(R):5'- GCTCTAACGAAAACAGTTGTCAGACC -3'
|
Posted On |
2014-10-02 |