Incidental Mutation 'R7351:AU040320'
| ID |
570563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
045437-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126710237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 328
(N328D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
| AlphaFold |
Q8K135 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047431
AA Change: N328D
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: N328D
| 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 damaging
Transcript: ENSMUST00000102607
AA Change: N328D
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: N328D
| 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 damaging
Transcript: ENSMUST00000102608
AA Change: N328D
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: N328D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| 1700006A11Rik |
C |
A |
3: 124,206,159 (GRCm39) |
G343V |
probably damaging |
Het |
| Adamts6 |
G |
A |
13: 104,526,620 (GRCm39) |
S516N |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,631,286 (GRCm39) |
L566F |
possibly damaging |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Brk1 |
T |
C |
6: 113,592,742 (GRCm39) |
S42P |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Cenpo |
A |
T |
12: 4,266,581 (GRCm39) |
F176I |
probably damaging |
Het |
| Cfap97d1 |
A |
G |
11: 101,882,331 (GRCm39) |
E163G |
probably benign |
Het |
| Clec12b |
A |
G |
6: 129,356,874 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
A |
G |
11: 106,138,508 (GRCm39) |
N769S |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,785,135 (GRCm39) |
D165G |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,167,145 (GRCm39) |
I486N |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,270,034 (GRCm39) |
D679G |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,693,225 (GRCm39) |
V76A |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,576,094 (GRCm39) |
C253R |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,601,854 (GRCm39) |
T239A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,543,640 (GRCm39) |
Y2845F |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Irgm2 |
G |
A |
11: 58,110,431 (GRCm39) |
V41M |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,278,486 (GRCm39) |
G3956R |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,345,482 (GRCm39) |
R163H |
probably damaging |
Het |
| Mxd1 |
A |
G |
6: 86,628,448 (GRCm39) |
S151P |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,751,033 (GRCm39) |
V251A |
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,420,857 (GRCm39) |
G201S |
probably benign |
Het |
| Or5m10b |
G |
T |
2: 85,694,415 (GRCm39) |
|
probably benign |
Het |
| Or8b3 |
C |
T |
9: 38,314,739 (GRCm39) |
L190F |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,317,049 (GRCm39) |
E642G |
possibly damaging |
Het |
| Pramel6 |
T |
A |
2: 87,340,672 (GRCm39) |
F335I |
probably benign |
Het |
| Psd |
G |
T |
19: 46,310,869 (GRCm39) |
S393R |
probably benign |
Het |
| Pwwp2a |
A |
G |
11: 43,573,107 (GRCm39) |
D63G |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,158,879 (GRCm39) |
T139A |
probably benign |
Het |
| Ripk2 |
T |
G |
4: 16,155,048 (GRCm39) |
E157A |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,439,623 (GRCm39) |
V140I |
possibly damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,102 (GRCm39) |
N114D |
probably benign |
Het |
| Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,785 (GRCm39) |
T245A |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,194 (GRCm39) |
F8L |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,137,841 (GRCm39) |
D56V |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,983,802 (GRCm39) |
E726D |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,900,412 (GRCm39) |
F1547L |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,441,855 (GRCm39) |
I1955T |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,196,755 (GRCm39) |
V27E |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,739 (GRCm39) |
S708P |
probably damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,412,240 (GRCm39) |
F258L |
probably benign |
Het |
| Tdpoz2 |
C |
T |
3: 93,559,900 (GRCm39) |
W24* |
probably null |
Het |
| Tmc8 |
T |
C |
11: 117,674,654 (GRCm39) |
L123P |
probably damaging |
Het |
| Trmo |
A |
T |
4: 46,387,716 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,598,030 (GRCm39) |
V19628I |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,770,274 (GRCm39) |
A2685V |
unknown |
Het |
| Usp15 |
A |
T |
10: 122,968,904 (GRCm39) |
M349K |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,739 (GRCm39) |
N363S |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,375,559 (GRCm39) |
I423N |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,691,439 (GRCm39) |
V1206A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,547 (GRCm39) |
Y358N |
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 |
|
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 |
|
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'- TAGAATCAGGCTCGAGGGATC -3'
(R):5'- TGCTAATGACACAGAGCCTC -3'
Sequencing Primer
(F):5'- CTCGAGGGATCAGAGACTAGAC -3'
(R):5'- AGAGCCTCTGATCTGCAGCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation