Incidental Mutation 'R5085:AU040320'
ID |
387361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AU040320
|
Ensembl Gene |
ENSMUSG00000028830 |
Gene Name |
expressed sequence AU040320 |
Synonyms |
|
MMRRC Submission |
042674-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5085 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126722664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 394
(N394I)
|
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: N394I
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037802 Gene: ENSMUSG00000028830 AA Change: N394I
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: N394I
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099667 Gene: ENSMUSG00000028830 AA Change: N394I
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: N394I
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099668 Gene: ENSMUSG00000028830 AA Change: N394I
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
|
Meta Mutation Damage Score |
0.9651 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
92% (69/75) |
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 |
4930562C15Rik |
A |
T |
16: 4,653,837 (GRCm39) |
K129* |
probably null |
Het |
Adamts6 |
A |
T |
13: 104,443,751 (GRCm39) |
D162V |
probably damaging |
Het |
Alms1 |
C |
A |
6: 85,597,714 (GRCm39) |
P1316T |
possibly damaging |
Het |
Cacng8 |
T |
C |
7: 3,464,096 (GRCm39) |
L416P |
possibly damaging |
Het |
Ccdc136 |
T |
A |
6: 29,419,313 (GRCm39) |
N944K |
probably damaging |
Het |
Clcn1 |
C |
T |
6: 42,290,814 (GRCm39) |
T896I |
probably benign |
Het |
Col16a1 |
A |
T |
4: 129,947,964 (GRCm39) |
Y228F |
probably damaging |
Het |
Cyfip1 |
A |
G |
7: 55,548,083 (GRCm39) |
D561G |
probably benign |
Het |
Ddr1 |
T |
A |
17: 35,993,667 (GRCm39) |
|
probably null |
Het |
Dedd2 |
A |
T |
7: 24,918,411 (GRCm39) |
L48Q |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dph3b-ps |
A |
G |
13: 106,683,558 (GRCm39) |
|
noncoding transcript |
Het |
Dppa3 |
T |
C |
6: 122,606,891 (GRCm39) |
F127S |
probably damaging |
Het |
Dpy19l4 |
C |
T |
4: 11,265,943 (GRCm39) |
|
probably null |
Het |
Flrt3 |
T |
C |
2: 140,502,177 (GRCm39) |
T484A |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,128,936 (GRCm39) |
E179G |
probably damaging |
Het |
Gm14403 |
A |
G |
2: 177,200,282 (GRCm39) |
E76G |
probably benign |
Het |
Gm6421 |
G |
A |
13: 117,494,969 (GRCm39) |
|
noncoding transcript |
Het |
Grk5 |
T |
C |
19: 61,065,122 (GRCm39) |
V262A |
probably damaging |
Het |
Grp |
A |
G |
18: 66,013,230 (GRCm39) |
Q132R |
probably benign |
Het |
Hap1 |
A |
G |
11: 100,246,537 (GRCm39) |
F123L |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,986,445 (GRCm39) |
D532G |
probably damaging |
Het |
Igsf9b |
C |
A |
9: 27,228,733 (GRCm39) |
F164L |
probably benign |
Het |
Irag1 |
G |
T |
7: 110,470,700 (GRCm39) |
L672I |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kansl1 |
C |
T |
11: 104,315,168 (GRCm39) |
R290Q |
probably damaging |
Het |
Kifc2 |
T |
A |
15: 76,545,496 (GRCm39) |
L81Q |
probably damaging |
Het |
Klrc3 |
T |
C |
6: 129,616,538 (GRCm39) |
R160G |
probably damaging |
Het |
Mal |
A |
G |
2: 127,482,193 (GRCm39) |
M70T |
probably benign |
Het |
Mep1a |
T |
G |
17: 43,789,035 (GRCm39) |
R580S |
probably damaging |
Het |
Methig1 |
A |
T |
15: 100,251,130 (GRCm39) |
I14F |
probably damaging |
Het |
Mtf1 |
T |
C |
4: 124,715,101 (GRCm39) |
L242P |
probably damaging |
Het |
Nfkb1 |
C |
A |
3: 135,309,568 (GRCm39) |
A509S |
probably benign |
Het |
Or2h2b-ps1 |
C |
G |
17: 37,480,858 (GRCm39) |
S227T |
probably benign |
Het |
Or2n1b |
G |
A |
17: 38,460,003 (GRCm39) |
D175N |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,449 (GRCm39) |
I205K |
probably damaging |
Het |
Or7a36 |
G |
T |
10: 78,819,928 (GRCm39) |
M101I |
probably benign |
Het |
Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
Pabpc2 |
A |
T |
18: 39,907,635 (GRCm39) |
N300I |
probably damaging |
Het |
Peg10 |
C |
T |
6: 4,755,864 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
T |
A |
6: 14,719,603 (GRCm39) |
D437V |
probably damaging |
Het |
Prickle1 |
A |
G |
15: 93,398,783 (GRCm39) |
S682P |
probably damaging |
Het |
Prkab2 |
T |
C |
3: 97,580,308 (GRCm39) |
|
probably benign |
Het |
Pus3 |
T |
A |
9: 35,476,932 (GRCm39) |
L243Q |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,605,905 (GRCm39) |
S182G |
probably damaging |
Het |
Rgs19 |
G |
A |
2: 181,331,336 (GRCm39) |
T99M |
possibly damaging |
Het |
Ripk2 |
A |
G |
4: 16,127,663 (GRCm39) |
S360P |
possibly damaging |
Het |
Rock1 |
A |
G |
18: 10,140,210 (GRCm39) |
I127T |
probably damaging |
Het |
Serpinb10 |
T |
G |
1: 107,469,947 (GRCm39) |
M143R |
probably damaging |
Het |
Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,093,465 (GRCm39) |
Q226L |
probably damaging |
Het |
Slc6a19 |
T |
C |
13: 73,839,872 (GRCm39) |
M137V |
probably benign |
Het |
Supv3l1 |
A |
T |
10: 62,271,291 (GRCm39) |
N415K |
probably benign |
Het |
Tekt4 |
A |
G |
17: 25,692,749 (GRCm39) |
R192G |
probably damaging |
Het |
Trgv7 |
A |
T |
13: 19,362,598 (GRCm39) |
K96* |
probably null |
Het |
Tshz1 |
T |
C |
18: 84,032,053 (GRCm39) |
N785S |
probably benign |
Het |
Usb1 |
A |
G |
8: 96,070,679 (GRCm39) |
T202A |
probably damaging |
Het |
Utp18 |
A |
T |
11: 93,761,363 (GRCm39) |
D348E |
possibly damaging |
Het |
Vmn1r42 |
T |
G |
6: 89,821,598 (GRCm39) |
I324L |
probably benign |
Het |
Wnt8a |
A |
T |
18: 34,678,656 (GRCm39) |
R157* |
probably null |
Het |
Ypel1 |
A |
G |
16: 16,902,472 (GRCm39) |
|
probably null |
Het |
Zfp235 |
A |
G |
7: 23,836,546 (GRCm39) |
K31E |
probably damaging |
Het |
Zhx2 |
G |
C |
15: 57,686,089 (GRCm39) |
W486S |
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 |
|
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'- CACATAAAAGAGCCGTGTTTCTC -3'
(R):5'- CCCAACACGGTACACTTTGC -3'
Sequencing Primer
(F):5'- GAGCCGTGTTTCTCATTAATTTAAGC -3'
(R):5'- GCTACAATTGCTATGCTGGAC -3'
|
Posted On |
2016-06-06 |