Incidental Mutation 'R6603:AU040320'
| ID |
525426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
044726-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126686046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 207
(N207K)
|
| 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: N207K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: N207K
| 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: N207K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: N207K
| 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: N207K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: N207K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
T |
8: 25,155,518 (GRCm39) |
F167Y |
possibly damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,549,881 (GRCm39) |
S755P |
probably benign |
Het |
| Aph1a |
A |
T |
3: 95,802,808 (GRCm39) |
N136I |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,605,856 (GRCm39) |
D377E |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,899,811 (GRCm39) |
|
probably null |
Het |
| Ddi2 |
T |
C |
4: 141,411,181 (GRCm39) |
N577S |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,704,624 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
A |
T |
7: 130,648,240 (GRCm39) |
|
probably null |
Het |
| Fam13a |
T |
C |
6: 58,964,174 (GRCm39) |
K86R |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxl8 |
A |
T |
8: 105,994,842 (GRCm39) |
D118V |
probably damaging |
Het |
| Garin5b |
G |
A |
7: 4,761,431 (GRCm39) |
P427L |
possibly damaging |
Het |
| Git2 |
C |
A |
5: 114,869,052 (GRCm39) |
|
probably null |
Het |
| Gm17190 |
T |
G |
13: 96,218,770 (GRCm39) |
D35E |
possibly damaging |
Het |
| Gnb4 |
C |
T |
3: 32,639,295 (GRCm39) |
D333N |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,968 (GRCm39) |
D249V |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,141 (GRCm39) |
S94P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,248,669 (GRCm39) |
I1029T |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,391,544 (GRCm39) |
I44T |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,849,890 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
A |
8: 36,690,095 (GRCm39) |
R654S |
probably damaging |
Het |
| Lrrc49 |
A |
C |
9: 60,501,052 (GRCm39) |
|
probably null |
Het |
| Miip |
T |
G |
4: 147,950,380 (GRCm39) |
K72T |
possibly damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,419 (GRCm39) |
P782S |
probably damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,322 (GRCm39) |
T266A |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nbr1 |
A |
G |
11: 101,446,931 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
A |
T |
2: 154,396,842 (GRCm39) |
N46K |
probably damaging |
Het |
| Or51a8 |
A |
T |
7: 102,549,621 (GRCm39) |
I16F |
probably benign |
Het |
| Phtf1 |
C |
T |
3: 103,901,189 (GRCm39) |
R360C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,145 (GRCm39) |
I385V |
probably benign |
Het |
| Prmt8 |
A |
T |
6: 127,706,376 (GRCm39) |
F138L |
probably benign |
Het |
| Prpf40a |
T |
G |
2: 53,042,975 (GRCm39) |
R436S |
probably damaging |
Het |
| Rab27b |
T |
A |
18: 70,118,375 (GRCm39) |
I181F |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,792,310 (GRCm39) |
E87G |
probably damaging |
Het |
| Scrib |
T |
A |
15: 75,934,572 (GRCm39) |
T674S |
probably benign |
Het |
| Slc9a4 |
A |
G |
1: 40,662,664 (GRCm39) |
S644G |
probably benign |
Het |
| Slc9a9 |
G |
A |
9: 94,821,599 (GRCm39) |
A329T |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
| Sox7 |
T |
A |
14: 64,185,637 (GRCm39) |
H224Q |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,070,479 (GRCm39) |
S876P |
probably damaging |
Het |
| Syndig1 |
G |
A |
2: 149,845,208 (GRCm39) |
V244M |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,421 (GRCm39) |
I150L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,168,343 (GRCm39) |
Y295C |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,939,006 (GRCm39) |
P56L |
probably benign |
Het |
| Tnfrsf8 |
A |
T |
4: 145,019,168 (GRCm39) |
D222E |
possibly damaging |
Het |
| Trim52 |
T |
C |
14: 106,344,483 (GRCm39) |
L47P |
probably damaging |
Het |
| Ttc34 |
T |
A |
4: 154,923,762 (GRCm39) |
I157K |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,389,224 (GRCm39) |
F492S |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,182,897 (GRCm39) |
I428V |
probably benign |
Het |
| Vmn2r41 |
T |
A |
7: 8,141,359 (GRCm39) |
I702F |
probably damaging |
Het |
| Wdr12 |
T |
A |
1: 60,121,783 (GRCm39) |
H256L |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,888 (GRCm39) |
H3043R |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,270,459 (GRCm39) |
Q500* |
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,475 (GRCm39) |
N38S |
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 |
|
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 |
|
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'- TCCCAAACTACAGATGATTTGGGC -3'
(R):5'- GACCTCTGAAGAAATGCCAGC -3'
Sequencing Primer
(F):5'- ATGAACCACATCTTCTGAGGCTAGG -3'
(R):5'- ATGCCAGCCAGCTTTACG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation