Incidental Mutation 'R1216:AU040320'
| ID |
99631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
039285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1216 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 126710276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047431]
[ENSMUST00000102607]
[ENSMUST00000102608]
|
| AlphaFold |
Q8K135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047431
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,868,716 (GRCm39) |
D332V |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,326,322 (GRCm39) |
Y53C |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,383,498 (GRCm39) |
|
probably benign |
Het |
| B4galnt2 |
A |
G |
11: 95,782,767 (GRCm39) |
L15P |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,583,472 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dppa4 |
T |
C |
16: 48,113,343 (GRCm39) |
F244S |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,702,035 (GRCm39) |
K445R |
probably benign |
Het |
| Fam47e |
A |
G |
5: 92,710,343 (GRCm39) |
E114G |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 27,981,202 (GRCm39) |
N171K |
possibly damaging |
Het |
| Fyb2 |
G |
A |
4: 104,852,903 (GRCm39) |
V528M |
possibly damaging |
Het |
| Ghr |
A |
G |
15: 3,349,337 (GRCm39) |
S614P |
probably damaging |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,193,554 (GRCm39) |
V365D |
possibly damaging |
Het |
| Guca1a |
A |
G |
17: 47,706,637 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,310,997 (GRCm39) |
G1079D |
probably benign |
Het |
| Hnrnpm |
T |
C |
17: 33,868,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,945,147 (GRCm39) |
D394E |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,672,108 (GRCm39) |
Y339* |
probably null |
Het |
| Kcnj11 |
C |
A |
7: 45,749,285 (GRCm39) |
V13L |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,554,191 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
G |
13: 113,050,876 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,709,473 (GRCm39) |
T161A |
probably benign |
Het |
| Ncapg |
G |
T |
5: 45,857,261 (GRCm39) |
S991I |
possibly damaging |
Het |
| Nrde2 |
G |
A |
12: 100,116,069 (GRCm39) |
|
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,822 (GRCm39) |
I24N |
probably benign |
Het |
| Or5d18 |
T |
C |
2: 87,864,602 (GRCm39) |
R294G |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,927 (GRCm39) |
T688S |
probably damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,190,635 (GRCm39) |
D309G |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,005,584 (GRCm39) |
V404D |
probably damaging |
Het |
| Ppp2r2a |
G |
T |
14: 67,266,447 (GRCm39) |
Y71* |
probably null |
Het |
| Prcp |
A |
G |
7: 92,566,954 (GRCm39) |
N222S |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,833,532 (GRCm39) |
T316A |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,319,034 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
C |
A |
2: 72,038,492 (GRCm39) |
P548T |
possibly damaging |
Het |
| Ric1 |
G |
T |
19: 29,555,135 (GRCm39) |
M416I |
probably benign |
Het |
| Slc9a8 |
T |
C |
2: 167,266,041 (GRCm39) |
F6S |
probably benign |
Het |
| Smpdl3a |
T |
G |
10: 57,678,575 (GRCm39) |
I126S |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,268,698 (GRCm39) |
L98Q |
probably damaging |
Het |
| Spink4 |
T |
G |
4: 40,924,974 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
A |
T |
10: 23,847,605 (GRCm39) |
L334F |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,289,203 (GRCm39) |
I454K |
probably benign |
Het |
| Ttc7 |
C |
T |
17: 87,654,006 (GRCm39) |
T561M |
possibly damaging |
Het |
| Vmn2r9 |
G |
T |
5: 108,995,440 (GRCm39) |
H403N |
probably damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,161 (GRCm39) |
C180Y |
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 |
|
|
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 |
|
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'- GACCTTGAGAGACCCTTTCCAATGG -3'
(R):5'- GCAGAAGTGCTAATGACACAGAGCC -3'
Sequencing Primer
(F):5'- CAGTGGCTGAGGGTGAC -3'
(R):5'- GACACAGAGCCTCTGATCTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation