Incidental Mutation 'R6456:AU040320'
ID |
520163 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AU040320
|
Ensembl Gene |
ENSMUSG00000028830 |
Gene Name |
expressed sequence AU040320 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6456 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126736284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 789
(N789S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
AlphaFold |
Q8K135 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047431
AA Change: N789S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000037802 Gene: ENSMUSG00000028830 AA Change: N789S
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: N789S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000099667 Gene: ENSMUSG00000028830 AA Change: N789S
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: N789S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000099668 Gene: ENSMUSG00000028830 AA Change: N789S
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: ENSMUST00000155341
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,240,474 (GRCm39) |
H779L |
possibly damaging |
Het |
Abca7 |
T |
C |
10: 79,850,984 (GRCm39) |
V2097A |
probably null |
Het |
Adam8 |
A |
G |
7: 139,566,701 (GRCm39) |
S524P |
possibly damaging |
Het |
Anapc2 |
T |
C |
2: 25,170,207 (GRCm39) |
M575T |
probably damaging |
Het |
Arhgap42 |
T |
A |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
Bmi1 |
A |
G |
2: 18,687,058 (GRCm39) |
Y46C |
probably damaging |
Het |
Brd10 |
G |
A |
19: 29,693,914 (GRCm39) |
P1860S |
possibly damaging |
Het |
Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
Cd180 |
C |
T |
13: 102,839,344 (GRCm39) |
L76F |
probably damaging |
Het |
Cep135 |
T |
C |
5: 76,739,571 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
G |
A |
9: 105,822,676 (GRCm39) |
T227I |
unknown |
Het |
Cyp4a29 |
G |
T |
4: 115,108,381 (GRCm39) |
M368I |
probably benign |
Het |
Ddx28 |
T |
A |
8: 106,737,000 (GRCm39) |
I353F |
possibly damaging |
Het |
Dhx40 |
G |
A |
11: 86,675,800 (GRCm39) |
T198M |
probably damaging |
Het |
Dnai4 |
A |
C |
4: 102,906,746 (GRCm39) |
M689R |
probably benign |
Het |
Dync2i2 |
T |
C |
2: 29,922,779 (GRCm39) |
S323G |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,038,128 (GRCm39) |
V3927M |
possibly damaging |
Het |
Garin1b |
A |
G |
6: 29,334,045 (GRCm39) |
N299S |
probably benign |
Het |
Gm10226 |
G |
T |
17: 21,910,932 (GRCm39) |
G56* |
probably null |
Het |
H2-T15 |
A |
T |
17: 36,367,502 (GRCm39) |
Y279N |
probably damaging |
Het |
Itsn2 |
T |
G |
12: 4,679,923 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
A |
G |
2: 30,145,486 (GRCm39) |
D100G |
probably benign |
Het |
Madd |
T |
C |
2: 91,008,536 (GRCm39) |
H122R |
probably benign |
Het |
Mfsd4b3-ps |
C |
G |
10: 39,823,316 (GRCm39) |
V315L |
probably benign |
Het |
Mki67 |
C |
G |
7: 135,301,204 (GRCm39) |
A1277P |
possibly damaging |
Het |
Nlrp9b |
T |
A |
7: 19,782,703 (GRCm39) |
N872K |
probably damaging |
Het |
Npas1 |
T |
C |
7: 16,195,851 (GRCm39) |
T274A |
probably benign |
Het |
Nrm |
A |
T |
17: 36,176,292 (GRCm39) |
|
probably null |
Het |
Or10j2 |
A |
T |
1: 173,098,105 (GRCm39) |
D121V |
probably damaging |
Het |
Pdilt |
T |
A |
7: 119,099,706 (GRCm39) |
L187F |
probably damaging |
Het |
Pkdcc |
T |
C |
17: 83,527,548 (GRCm39) |
I242T |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,077,459 (GRCm39) |
D535Y |
probably damaging |
Het |
Pmpca |
T |
A |
2: 26,285,179 (GRCm39) |
I468N |
probably damaging |
Het |
Prpf4 |
T |
C |
4: 62,332,869 (GRCm39) |
|
probably null |
Het |
Rcc1 |
A |
G |
4: 132,061,427 (GRCm39) |
S361P |
probably benign |
Het |
Rigi |
T |
A |
4: 40,213,838 (GRCm39) |
N607Y |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,350,792 (GRCm39) |
I3876V |
probably benign |
Het |
Sall2 |
T |
A |
14: 52,551,050 (GRCm39) |
Q715L |
probably damaging |
Het |
Sall2 |
G |
A |
14: 52,551,051 (GRCm39) |
Q713* |
probably null |
Het |
Sin3a |
A |
G |
9: 57,020,985 (GRCm39) |
S1004G |
possibly damaging |
Het |
Sltm |
C |
T |
9: 70,450,269 (GRCm39) |
T23M |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,724,250 (GRCm39) |
H310L |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,428,740 (GRCm39) |
E385G |
probably benign |
Het |
Syne3 |
G |
T |
12: 104,906,963 (GRCm39) |
R775S |
possibly damaging |
Het |
Szt2 |
A |
T |
4: 118,233,894 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
T |
C |
11: 105,112,099 (GRCm39) |
S151P |
probably benign |
Het |
Trabd2b |
C |
T |
4: 114,443,757 (GRCm39) |
R305C |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,018,675 (GRCm39) |
Q1244R |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,703,357 (GRCm39) |
N245S |
probably benign |
Het |
Wdr64 |
G |
A |
1: 175,613,175 (GRCm39) |
|
probably null |
Het |
Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
possibly 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 |
R5918:AU040320
|
UTSW |
4 |
126,708,064 (GRCm39) |
missense |
probably benign |
0.32 |
R6123:AU040320
|
UTSW |
4 |
126,763,179 (GRCm39) |
intron |
probably benign |
|
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'- CAGTTCTCAGGGTAATGGGAAGC -3'
(R):5'- AGAACCCCAAGGCCTTCCTATG -3'
Sequencing Primer
(F):5'- GTAATGGGAAGCCTTAAACCAGCTC -3'
(R):5'- AAGGCCTTCCTATGGTCCC -3'
|
Posted On |
2018-06-06 |