Incidental Mutation 'R5032:Auts2'
| ID |
391746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
| MMRRC Submission |
042623-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5032 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 131505730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161374]
[ENSMUST00000161804]
[ENSMUST00000187544]
|
| AlphaFold |
A0A087WPF7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160071
|
| SMART Domains |
Protein: ENSMUSP00000125349
Gene: ENSMUSG00000029673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
|
Pfam:Auts2
|
194 |
406 |
2.3e-108 |
PFAM |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
779 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161226
|
| SMART Domains |
Protein: ENSMUSP00000124900
Gene: ENSMUSG00000029673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161374
|
| SMART Domains |
Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
|
Pfam:Auts2
|
172 |
384 |
1.5e-112 |
PFAM |
|
low complexity region
|
411 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161804
|
| SMART Domains |
Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
|
Pfam:Auts2
|
187 |
399 |
3.9e-113 |
PFAM |
|
low complexity region
|
426 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
772 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183153
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000187544
AA Change: V45A
|
| SMART Domains |
Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: V45A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
314 |
N/A |
INTRINSIC |
|
Pfam:Auts2
|
396 |
608 |
4.3e-109 |
PFAM |
|
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
757 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
981 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0718 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.0%
|
| Validation Efficiency |
97% (77/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Actl9 |
A |
G |
17: 33,653,062 (GRCm39) |
N374S |
probably benign |
Het |
| Adam34l |
T |
C |
8: 44,079,508 (GRCm39) |
N239D |
probably damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,768,555 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,720,464 (GRCm39) |
M1501T |
probably benign |
Het |
| Asb17 |
A |
T |
3: 153,550,175 (GRCm39) |
D69V |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,082,202 (GRCm39) |
Y877C |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,894,271 (GRCm39) |
Q64R |
probably benign |
Het |
| Cacna2d1 |
G |
T |
5: 16,564,068 (GRCm39) |
R893L |
probably damaging |
Het |
| Ccdc138 |
C |
T |
10: 58,409,458 (GRCm39) |
R596C |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,628 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,400,330 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,312,543 (GRCm39) |
Y339H |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,136,744 (GRCm39) |
W190R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,167,798 (GRCm39) |
R1027H |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,593,326 (GRCm39) |
Q1198* |
probably null |
Het |
| Ecel1 |
G |
A |
1: 87,081,975 (GRCm39) |
S246L |
probably damaging |
Het |
| Fam228b |
T |
G |
12: 4,813,042 (GRCm39) |
R109S |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,799,245 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,939,159 (GRCm39) |
R814G |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,897,746 (GRCm39) |
K233E |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,811,026 (GRCm39) |
Y438H |
probably damaging |
Het |
| Gsdmc |
A |
T |
15: 63,673,882 (GRCm39) |
D134E |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,760,142 (GRCm39) |
I226V |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,544 (GRCm39) |
I1037V |
probably benign |
Het |
| Hspa4 |
T |
G |
11: 53,179,950 (GRCm39) |
R69S |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,829,354 (GRCm39) |
S508P |
probably damaging |
Het |
| Krt7 |
G |
A |
15: 101,310,428 (GRCm39) |
R25H |
probably benign |
Het |
| Lhfpl6 |
T |
A |
3: 52,950,854 (GRCm39) |
S43T |
possibly damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,887,217 (GRCm39) |
K394N |
possibly damaging |
Het |
| Lypd4 |
A |
T |
7: 24,566,240 (GRCm39) |
L28Q |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,161,481 (GRCm39) |
E798G |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,097,145 (GRCm39) |
|
probably null |
Het |
| Mtg2 |
A |
T |
2: 179,725,183 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Myh1 |
G |
T |
11: 67,096,874 (GRCm39) |
E382* |
probably null |
Het |
| Myo3a |
T |
C |
2: 22,287,413 (GRCm39) |
L175P |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,904,786 (GRCm39) |
F144L |
possibly damaging |
Het |
| Nfrkb |
T |
A |
9: 31,300,351 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
C |
T |
2: 3,285,429 (GRCm39) |
P5L |
probably benign |
Het |
| Nsmf |
T |
C |
2: 24,945,073 (GRCm39) |
|
probably null |
Het |
| Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,420 (GRCm39) |
I219F |
probably benign |
Het |
| Pcdhgc3 |
T |
A |
18: 37,940,638 (GRCm39) |
N346K |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,190,911 (GRCm39) |
P2791S |
probably benign |
Het |
| Pdia3 |
A |
G |
2: 121,244,620 (GRCm39) |
N11S |
probably benign |
Het |
| Pik3c2g |
A |
T |
6: 139,841,928 (GRCm39) |
T778S |
probably benign |
Het |
| Pik3ip1 |
T |
A |
11: 3,283,520 (GRCm39) |
I75N |
probably damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,112,176 (GRCm39) |
Y118* |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,440,336 (GRCm39) |
S845P |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,905,937 (GRCm39) |
L50* |
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,053,140 (GRCm39) |
V926I |
probably benign |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,799 (GRCm39) |
N139K |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,960,300 (GRCm39) |
M189K |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,570 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
A |
3: 88,152,441 (GRCm39) |
G368C |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,811,042 (GRCm39) |
|
probably null |
Het |
| Sf3a3 |
T |
C |
4: 124,618,959 (GRCm39) |
S307P |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,814,442 (GRCm39) |
Y494F |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
| Spag16 |
T |
G |
1: 69,892,511 (GRCm39) |
N97K |
probably benign |
Het |
| Tmem192 |
T |
C |
8: 65,412,163 (GRCm39) |
V114A |
possibly damaging |
Het |
| Urb1 |
G |
T |
16: 90,553,059 (GRCm39) |
P1901T |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,419,459 (GRCm39) |
T601A |
probably damaging |
Het |
| Wdtc1 |
G |
T |
4: 133,036,162 (GRCm39) |
T126K |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,356,014 (GRCm39) |
Y3592H |
possibly damaging |
Het |
| Xylt2 |
A |
T |
11: 94,560,842 (GRCm39) |
V232E |
probably damaging |
Het |
|
| Other mutations in Auts2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Auts2
|
APN |
5 |
131,469,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01751:Auts2
|
APN |
5 |
131,501,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02070:Auts2
|
APN |
5 |
131,499,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Auts2
|
UTSW |
5 |
131,468,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Auts2
|
UTSW |
5 |
131,468,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Auts2
|
UTSW |
5 |
131,799,624 (GRCm39) |
exon |
noncoding transcript |
|
|
R0399:Auts2
|
UTSW |
5 |
131,469,362 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0412:Auts2
|
UTSW |
5 |
131,475,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0551:Auts2
|
UTSW |
5 |
131,469,307 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1536:Auts2
|
UTSW |
5 |
131,516,302 (GRCm39) |
intron |
probably benign |
|
|
R1573:Auts2
|
UTSW |
5 |
131,469,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Auts2
|
UTSW |
5 |
131,501,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Auts2
|
UTSW |
5 |
131,472,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2431:Auts2
|
UTSW |
5 |
132,287,887 (GRCm39) |
nonsense |
probably null |
|
|
R3745:Auts2
|
UTSW |
5 |
131,505,425 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4290:Auts2
|
UTSW |
5 |
131,503,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Auts2
|
UTSW |
5 |
132,287,773 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4576:Auts2
|
UTSW |
5 |
132,287,773 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4578:Auts2
|
UTSW |
5 |
132,287,773 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4623:Auts2
|
UTSW |
5 |
131,469,221 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4632:Auts2
|
UTSW |
5 |
131,501,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Auts2
|
UTSW |
5 |
131,468,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Auts2
|
UTSW |
5 |
131,494,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Auts2
|
UTSW |
5 |
131,501,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Auts2
|
UTSW |
5 |
131,472,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5078:Auts2
|
UTSW |
5 |
132,287,786 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5093:Auts2
|
UTSW |
5 |
131,468,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5182:Auts2
|
UTSW |
5 |
131,503,919 (GRCm39) |
missense |
probably null |
0.01 |
|
R5305:Auts2
|
UTSW |
5 |
131,472,632 (GRCm39) |
intron |
probably benign |
|
|
R5429:Auts2
|
UTSW |
5 |
131,501,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Auts2
|
UTSW |
5 |
131,505,662 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5725:Auts2
|
UTSW |
5 |
131,468,584 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5990:Auts2
|
UTSW |
5 |
131,505,734 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6074:Auts2
|
UTSW |
5 |
131,505,828 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6130:Auts2
|
UTSW |
5 |
131,469,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Auts2
|
UTSW |
5 |
131,494,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Auts2
|
UTSW |
5 |
131,469,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7000:Auts2
|
UTSW |
5 |
131,469,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7014:Auts2
|
UTSW |
5 |
131,494,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Auts2
|
UTSW |
5 |
131,480,731 (GRCm39) |
missense |
|
|
|
R7812:Auts2
|
UTSW |
5 |
131,501,284 (GRCm39) |
missense |
|
|
|
R7922:Auts2
|
UTSW |
5 |
131,469,211 (GRCm39) |
missense |
|
|
|
R8159:Auts2
|
UTSW |
5 |
131,488,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8553:Auts2
|
UTSW |
5 |
131,468,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8873:Auts2
|
UTSW |
5 |
131,472,502 (GRCm39) |
missense |
|
|
|
R8970:Auts2
|
UTSW |
5 |
132,287,791 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9348:Auts2
|
UTSW |
5 |
131,490,155 (GRCm39) |
missense |
|
|
|
R9500:Auts2
|
UTSW |
5 |
131,505,620 (GRCm39) |
missense |
unknown |
|
|
Z1088:Auts2
|
UTSW |
5 |
131,505,392 (GRCm39) |
splice site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGCTGTTGTAGGCCGAC -3'
(R):5'- TACAGTGTGCTTGTCCTCTG -3'
Sequencing Primer
(F):5'- GACAGTGGCTGTGAGAGGCTC -3'
(R):5'- AGTGTGCTTGTCCTCTGTGTCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation