Incidental Mutation 'R6074:Auts2'
ID |
482633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Auts2
|
Ensembl Gene |
ENSMUSG00000029673 |
Gene Name |
autism susceptibility candidate 2 |
Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
MMRRC Submission |
044235-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6074 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
G to T
at 131505828 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 |
unknown
Transcript: ENSMUST00000187544
AA Change: H12Q
|
SMART Domains |
Protein: ENSMUSP00000139759 Gene: ENSMUSG00000029673 AA Change: H12Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183153
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182974
|
Meta Mutation Damage Score |
0.0590 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (61/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amigo1 |
T |
A |
3: 108,099,009 (GRCm39) |
C189* |
probably null |
Het |
Cadps2 |
C |
A |
6: 23,626,670 (GRCm39) |
W177L |
probably damaging |
Het |
Camk2b |
G |
T |
11: 5,939,635 (GRCm39) |
P223Q |
probably damaging |
Het |
Ccdc74a |
C |
A |
16: 17,464,591 (GRCm39) |
S9* |
probably null |
Het |
Ccnt1 |
A |
C |
15: 98,441,205 (GRCm39) |
Y688D |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
Ceacam3 |
C |
T |
7: 16,885,484 (GRCm39) |
T29I |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,710,589 (GRCm39) |
S1473P |
probably damaging |
Het |
Col19a1 |
T |
A |
1: 24,565,564 (GRCm39) |
T256S |
unknown |
Het |
Eif2d |
T |
A |
1: 131,094,079 (GRCm39) |
D423E |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,966,723 (GRCm39) |
|
probably null |
Het |
Gaa |
G |
A |
11: 119,175,012 (GRCm39) |
R871H |
probably benign |
Het |
Galnt12 |
T |
A |
4: 47,112,405 (GRCm39) |
V37D |
probably damaging |
Het |
Glp2r |
A |
G |
11: 67,637,640 (GRCm39) |
S13P |
unknown |
Het |
Gnptab |
C |
T |
10: 88,268,940 (GRCm39) |
L548F |
probably damaging |
Het |
Heg1 |
C |
T |
16: 33,547,573 (GRCm39) |
P787S |
possibly damaging |
Het |
Hivep2 |
T |
A |
10: 14,007,485 (GRCm39) |
M1361K |
probably benign |
Het |
Hivep3 |
T |
C |
4: 119,954,891 (GRCm39) |
I1069T |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,268,046 (GRCm39) |
D2121G |
probably benign |
Het |
Htatip2 |
A |
G |
7: 49,422,322 (GRCm39) |
|
probably null |
Het |
Ighv1-75 |
T |
C |
12: 115,798,007 (GRCm39) |
S4G |
probably benign |
Het |
Ip6k1 |
A |
G |
9: 107,901,308 (GRCm39) |
|
probably benign |
Het |
Kcna6 |
A |
G |
6: 126,716,242 (GRCm39) |
S216P |
probably benign |
Het |
Kif21a |
T |
A |
15: 90,865,095 (GRCm39) |
T526S |
probably benign |
Het |
Kng2 |
C |
T |
16: 22,819,346 (GRCm39) |
G230D |
probably benign |
Het |
Lgi2 |
A |
T |
5: 52,703,984 (GRCm39) |
F216I |
probably benign |
Het |
Lratd1 |
G |
A |
12: 14,200,512 (GRCm39) |
H72Y |
probably benign |
Het |
Lss |
T |
A |
10: 76,379,693 (GRCm39) |
N383K |
probably damaging |
Het |
Mical1 |
T |
C |
10: 41,362,061 (GRCm39) |
M929T |
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Nat8f4 |
A |
G |
6: 85,878,169 (GRCm39) |
V118A |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,945 (GRCm39) |
N194K |
probably benign |
Het |
Or4p23 |
A |
C |
2: 88,576,566 (GRCm39) |
L222R |
probably damaging |
Het |
Or6b2 |
G |
A |
1: 92,407,497 (GRCm39) |
T282M |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,030,335 (GRCm39) |
S188T |
probably benign |
Het |
Pea15a |
C |
T |
1: 172,026,752 (GRCm39) |
R85H |
possibly damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,798,836 (GRCm39) |
I919T |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,835,968 (GRCm39) |
D232G |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,415,602 (GRCm39) |
S1837P |
probably benign |
Het |
Samd5 |
T |
A |
10: 9,550,334 (GRCm39) |
Y125F |
possibly damaging |
Het |
Skint5 |
T |
C |
4: 113,662,397 (GRCm39) |
T597A |
unknown |
Het |
Slc25a12 |
A |
G |
2: 71,106,798 (GRCm39) |
F605L |
probably benign |
Het |
Slc39a12 |
C |
T |
2: 14,412,290 (GRCm39) |
Q321* |
probably null |
Het |
Slc6a19 |
T |
C |
13: 73,837,882 (GRCm39) |
S206G |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,227,165 (GRCm39) |
H1283Q |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,036,971 (GRCm39) |
E290G |
possibly damaging |
Het |
Timd2 |
C |
T |
11: 46,577,999 (GRCm39) |
G44D |
possibly damaging |
Het |
Tmem74 |
A |
G |
15: 43,730,134 (GRCm39) |
V303A |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,128,186 (GRCm39) |
V785A |
probably benign |
Het |
Tpra1 |
T |
A |
6: 88,888,919 (GRCm39) |
I367N |
possibly damaging |
Het |
Txnrd2 |
T |
C |
16: 18,256,297 (GRCm39) |
I95T |
probably damaging |
Het |
Usp32 |
A |
G |
11: 84,885,399 (GRCm39) |
V1216A |
probably benign |
Het |
Usp54 |
C |
A |
14: 20,602,167 (GRCm39) |
M1394I |
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,322,167 (GRCm39) |
F177L |
probably benign |
Het |
Vmn2r82 |
T |
A |
10: 79,232,377 (GRCm39) |
V792E |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,805,596 (GRCm39) |
|
probably null |
Het |
Wnk2 |
A |
T |
13: 49,204,875 (GRCm39) |
C458S |
probably damaging |
Het |
Xkr6 |
T |
G |
14: 63,844,519 (GRCm39) |
F181V |
possibly damaging |
Het |
Zfp212 |
T |
A |
6: 47,903,986 (GRCm39) |
C149* |
probably null |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp661 |
A |
G |
2: 127,419,793 (GRCm39) |
S116P |
probably benign |
Het |
Zfp770 |
A |
G |
2: 114,026,870 (GRCm39) |
Y400H |
possibly 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 |
R5032:Auts2
|
UTSW |
5 |
131,505,730 (GRCm39) |
utr 5 prime |
probably benign |
|
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 |
|
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'- CTGTGTACTTGGAGGAGGAAAC -3'
(R):5'- GAATCAAAGTGCTGGGTGGC -3'
|
Posted On |
2017-07-14 |