Incidental Mutation 'R5684:AU040320'
| ID |
443222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU040320
|
| Ensembl Gene |
ENSMUSG00000028830 |
| Gene Name |
expressed sequence AU040320 |
| Synonyms |
|
| MMRRC Submission |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126647331-126763487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126685939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 172
(T172A)
|
| 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: T172A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000037802
Gene: ENSMUSG00000028830
AA Change: T172A
| 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: T172A
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099667
Gene: ENSMUSG00000028830
AA Change: T172A
| 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: T172A
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099668
Gene: ENSMUSG00000028830
AA Change: T172A
| 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: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,849,009 (GRCm39) |
S396P |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,948,465 (GRCm39) |
C561S |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Or5p64 |
A |
T |
7: 107,855,246 (GRCm39) |
I33N |
possibly damaging |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,004,154 (GRCm39) |
K104E |
probably damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc22a15 |
A |
G |
3: 101,770,271 (GRCm39) |
S439P |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,715,681 (GRCm39) |
V273D |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Vtn |
G |
A |
11: 78,391,384 (GRCm39) |
G266S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
probably benign |
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 |
|
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'- AAGGGATGTGCTTTCAGGC -3'
(R):5'- ATCAGCTCAGTTGCTCATGC -3'
Sequencing Primer
(F):5'- TGACTGCAGTAAGCCCCAGAG -3'
(R):5'- GATTTAAGTTCTACCCCTAGGAACC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation