Incidental Mutation 'R6864:AU040320'
| ID |
535796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
044964-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126741612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 940
(V940D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
| AlphaFold |
Q8K135 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047431
AA Change: V940D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: V940D
| 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: V940D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: V940D
| 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: V940D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: V940D
| 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 |
|
| Meta Mutation Damage Score |
0.4026 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,293,545 (GRCm39) |
S33T |
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,877,011 (GRCm39) |
T541A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,917,557 (GRCm39) |
R334W |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,471,011 (GRCm39) |
Y232N |
probably damaging |
Het |
| Bmp7 |
A |
G |
2: 172,781,855 (GRCm39) |
V3A |
probably benign |
Het |
| Calr |
A |
T |
8: 85,571,557 (GRCm39) |
H145Q |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,562,792 (GRCm39) |
T976S |
probably benign |
Het |
| Ccnk |
G |
A |
12: 108,168,473 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 85,015,029 (GRCm39) |
S1107P |
probably damaging |
Het |
| Cradd |
T |
C |
10: 95,011,789 (GRCm39) |
D117G |
probably damaging |
Het |
| Dcaf7 |
C |
T |
11: 105,937,647 (GRCm39) |
T90I |
probably damaging |
Het |
| Defb30 |
T |
A |
14: 63,273,552 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,795,745 (GRCm39) |
I854N |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,791,477 (GRCm39) |
T341A |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,206 (GRCm39) |
V309A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,905,640 (GRCm38) |
P1130L |
possibly damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,085 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,757,011 (GRCm39) |
K242* |
probably null |
Het |
| Kel |
A |
G |
6: 41,680,694 (GRCm39) |
|
probably null |
Het |
| Lcorl |
T |
A |
5: 45,904,546 (GRCm39) |
K177N |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,354,795 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,343,313 (GRCm39) |
D1735G |
probably damaging |
Het |
| Ms4a1 |
C |
A |
19: 11,230,542 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mylk |
C |
A |
16: 34,694,520 (GRCm39) |
P193Q |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or2y16 |
G |
T |
11: 49,334,767 (GRCm39) |
A30S |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,580 (GRCm39) |
T74S |
probably damaging |
Het |
| Or4d10b |
A |
T |
19: 12,036,777 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or4f52 |
C |
T |
2: 111,061,542 (GRCm39) |
V199I |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,663,667 (GRCm39) |
S968N |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,686,783 (GRCm39) |
V555G |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,715,761 (GRCm39) |
Y103C |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,451,133 (GRCm39) |
Y204C |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,806,391 (GRCm39) |
E546G |
probably damaging |
Het |
| Prss12 |
C |
A |
3: 123,241,033 (GRCm39) |
H76N |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,633,254 (GRCm39) |
S45R |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,750 (GRCm39) |
D837V |
probably benign |
Het |
| Slc22a6 |
G |
T |
19: 8,595,805 (GRCm39) |
C49F |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,775,874 (GRCm39) |
I328N |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,556,310 (GRCm39) |
I148V |
possibly damaging |
Het |
| Stk32b |
A |
T |
5: 37,606,149 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,115 (GRCm39) |
F525I |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,964,991 (GRCm39) |
I183T |
probably damaging |
Het |
| Tmem175 |
A |
C |
5: 108,793,845 (GRCm39) |
H325P |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,443,196 (GRCm39) |
V389A |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,809,011 (GRCm39) |
|
probably null |
Het |
| Trim28 |
T |
A |
7: 12,763,385 (GRCm39) |
F509I |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,713 (GRCm39) |
Q191L |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,756,117 (GRCm39) |
D63V |
possibly damaging |
Het |
| Zfp536 |
A |
G |
7: 37,267,940 (GRCm39) |
L492P |
probably damaging |
Het |
| Zfp831 |
C |
A |
2: 174,488,533 (GRCm39) |
N1069K |
possibly damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,593 (GRCm39) |
H226Q |
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 |
|
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'- TTCTGCAGCGTTCAGAGCAG -3'
(R):5'- AATTTTCTGCTGCAGGCCTTG -3'
Sequencing Primer
(F):5'- TGGCCTGGTCTACATACAGAG -3'
(R):5'- TGGGAGCCCAGTGAAATCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation