Incidental Mutation 'R5918:AU040320'
| ID |
461453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
044115-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5918 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126708064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 227
(T227A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
| AlphaFold |
Q8K135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047431
AA Change: T227A
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: T227A
| 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: T227A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: T227A
| 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: T227A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: T227A
| 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: ENSMUST00000104592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141918
|
| Meta Mutation Damage Score |
0.0723 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
93% (66/71) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
T |
5: 36,131,869 (GRCm39) |
I399F |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,659,703 (GRCm39) |
P239L |
probably benign |
Het |
| Ankrd9 |
A |
G |
12: 110,943,200 (GRCm39) |
V245A |
probably benign |
Het |
| Anxa1 |
T |
C |
19: 20,355,857 (GRCm39) |
|
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,543,387 (GRCm39) |
K454R |
probably damaging |
Het |
| Bbs2 |
C |
T |
8: 94,824,931 (GRCm39) |
R17H |
probably damaging |
Het |
| Bcl2l12 |
A |
G |
7: 44,640,888 (GRCm39) |
|
probably benign |
Het |
| C1qtnf9 |
G |
T |
14: 61,009,737 (GRCm39) |
|
probably benign |
Het |
| Ccdc38 |
C |
G |
10: 93,406,748 (GRCm39) |
Y219* |
probably null |
Het |
| Ceacam3 |
G |
T |
7: 16,893,670 (GRCm39) |
D394Y |
probably damaging |
Het |
| Crip1 |
A |
C |
12: 113,117,287 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,260,803 (GRCm39) |
V1987A |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,725,025 (GRCm39) |
C4376F |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,763,332 (GRCm39) |
F446L |
probably damaging |
Het |
| Garin1a |
A |
G |
6: 29,285,942 (GRCm39) |
R76G |
probably null |
Het |
| Gm14322 |
A |
G |
2: 177,411,499 (GRCm39) |
D103G |
probably benign |
Het |
| Gpa33 |
T |
C |
1: 165,958,107 (GRCm39) |
|
probably null |
Het |
| Lactb2 |
T |
A |
1: 13,720,954 (GRCm39) |
I93F |
probably benign |
Het |
| Lifr |
A |
T |
15: 7,188,897 (GRCm39) |
T93S |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,810,308 (GRCm39) |
I101N |
probably damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,117 (GRCm39) |
V631M |
possibly damaging |
Het |
| Mctp2 |
A |
C |
7: 71,878,288 (GRCm39) |
D263E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,307,051 (GRCm39) |
I1627N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,087,906 (GRCm39) |
Y5188C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,460,048 (GRCm39) |
|
probably benign |
Het |
| Nr6a1 |
T |
C |
2: 38,629,103 (GRCm39) |
D250G |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,987,128 (GRCm39) |
E168G |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,944 (GRCm39) |
V205A |
probably damaging |
Het |
| Or2d2b |
T |
A |
7: 106,705,828 (GRCm39) |
Q80L |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,425 (GRCm39) |
I83T |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,048,684 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or9i1b |
T |
A |
19: 13,897,139 (GRCm39) |
F252I |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,416,497 (GRCm39) |
Q29* |
probably null |
Het |
| Ppargc1a |
C |
T |
5: 51,620,579 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,922,765 (GRCm39) |
R242H |
probably benign |
Het |
| Ppp1r37 |
G |
T |
7: 19,266,036 (GRCm39) |
Q577K |
probably benign |
Het |
| Prcd |
A |
G |
11: 116,548,366 (GRCm39) |
E25G |
probably damaging |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Ptgs1 |
A |
C |
2: 36,141,089 (GRCm39) |
E512A |
probably damaging |
Het |
| Radil |
T |
G |
5: 142,473,357 (GRCm39) |
I535L |
probably benign |
Het |
| Rbl2 |
G |
T |
8: 91,816,758 (GRCm39) |
V373F |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,708,577 (GRCm39) |
Y4802C |
probably benign |
Het |
| Sdc2 |
A |
G |
15: 33,028,313 (GRCm39) |
T144A |
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,021,398 (GRCm39) |
|
probably null |
Het |
| Sipa1l3 |
T |
C |
7: 29,096,631 (GRCm39) |
D531G |
probably damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,887,411 (GRCm39) |
C189F |
possibly damaging |
Het |
| Srcin1 |
T |
C |
11: 97,424,323 (GRCm39) |
|
probably null |
Het |
| Svep1 |
C |
T |
4: 58,069,345 (GRCm39) |
E2814K |
possibly damaging |
Het |
| Tjp3 |
T |
G |
10: 81,113,746 (GRCm39) |
H504P |
probably benign |
Het |
| Tmprss4 |
T |
A |
9: 45,086,414 (GRCm39) |
K378* |
probably null |
Het |
| Tns4 |
C |
T |
11: 98,964,497 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,580,298 (GRCm39) |
T15205A |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,089,011 (GRCm39) |
G322V |
probably benign |
Het |
| Vac14 |
A |
T |
8: 111,363,104 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
T |
G |
7: 23,508,372 (GRCm39) |
D85A |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,030 (GRCm39) |
L634P |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 45,001,271 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,974,086 (GRCm39) |
H118Q |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,069,955 (GRCm39) |
H648L |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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'- AAGAATGGGTTCTGGGGACC -3'
(R):5'- TGCTGAGGTGCTCTGAGAAGAG -3'
Sequencing Primer
(F):5'- CAAACCTGGGGCATGTCTG -3'
(R):5'- TGCTCTGAGAAGAGGCCTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation