Incidental Mutation 'R4632:Auts2'
ID |
349270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Auts2
|
Ensembl Gene |
ENSMUSG00000029673 |
Gene Name |
autism susceptibility candidate 2 |
Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
MMRRC Submission |
041897-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4632 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 131501113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 309
(T309M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139759
(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 damaging
Transcript: ENSMUST00000161374
AA Change: T100M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124730 Gene: ENSMUSG00000029673 AA Change: T100M
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 damaging
Transcript: ENSMUST00000161804
AA Change: T100M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124027 Gene: ENSMUSG00000029673 AA Change: T100M
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 |
probably damaging
Transcript: ENSMUST00000187544
AA Change: T309M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139759 Gene: ENSMUSG00000029673 AA Change: T309M
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: ENSMUST00000198149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183153
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,283,447 (GRCm39) |
V44A |
probably benign |
Het |
Abr |
C |
T |
11: 76,399,845 (GRCm39) |
G39R |
probably benign |
Het |
Adora2b |
TGGACCACTCCAGGACCACTC |
TGGACCACTC |
11: 62,156,208 (GRCm39) |
|
probably null |
Het |
Agbl1 |
A |
G |
7: 76,063,433 (GRCm39) |
T47A |
probably benign |
Het |
Akap13 |
G |
T |
7: 75,316,301 (GRCm39) |
A1389S |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankar |
T |
A |
1: 72,686,343 (GRCm39) |
T1286S |
probably benign |
Het |
Ankrd13c |
A |
G |
3: 157,667,939 (GRCm39) |
H166R |
probably damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Arl16 |
A |
G |
11: 120,356,610 (GRCm39) |
S130P |
probably damaging |
Het |
Atp10a |
A |
T |
7: 58,457,186 (GRCm39) |
Q895L |
possibly damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,537 (GRCm39) |
R138W |
probably damaging |
Het |
C6 |
A |
T |
15: 4,789,350 (GRCm39) |
K265I |
probably benign |
Het |
Casz1 |
A |
G |
4: 149,036,312 (GRCm39) |
T1525A |
possibly damaging |
Het |
Cd200l1 |
T |
G |
16: 45,238,271 (GRCm39) |
H181P |
probably benign |
Het |
Chpf2 |
A |
G |
5: 24,796,829 (GRCm39) |
T592A |
probably benign |
Het |
Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
Cmip |
A |
G |
8: 118,174,150 (GRCm39) |
Y410C |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,874,605 (GRCm39) |
C560R |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,403,562 (GRCm39) |
E2993D |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,467,110 (GRCm39) |
F3585L |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,325,272 (GRCm39) |
D545G |
unknown |
Het |
Dusp7 |
T |
A |
9: 106,247,965 (GRCm39) |
S198T |
possibly damaging |
Het |
Ell2 |
A |
T |
13: 75,917,693 (GRCm39) |
Q541L |
possibly damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
Galntl6 |
T |
A |
8: 58,880,857 (GRCm39) |
I99F |
probably damaging |
Het |
Gnat3 |
G |
A |
5: 18,220,364 (GRCm39) |
|
probably null |
Het |
Hykk |
T |
C |
9: 54,853,800 (GRCm39) |
I374T |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,450,886 (GRCm39) |
I722V |
possibly damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Krt13 |
A |
G |
11: 100,012,050 (GRCm39) |
L91P |
possibly damaging |
Het |
Krtap4-13 |
A |
C |
11: 99,700,354 (GRCm39) |
S102A |
unknown |
Het |
Lrp2 |
A |
G |
2: 69,319,473 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,057,288 (GRCm39) |
V171I |
probably damaging |
Het |
Map3k4 |
C |
G |
17: 12,451,391 (GRCm39) |
E1501Q |
probably damaging |
Het |
Mapk11 |
C |
T |
15: 89,030,579 (GRCm39) |
V105M |
probably damaging |
Het |
Mlph |
G |
A |
1: 90,867,108 (GRCm39) |
A377T |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,776,947 (GRCm39) |
C1115Y |
probably benign |
Het |
Nabp1 |
A |
T |
1: 51,513,761 (GRCm39) |
Y78* |
probably null |
Het |
Nos2 |
T |
C |
11: 78,848,417 (GRCm39) |
F1108S |
possibly damaging |
Het |
Oas2 |
T |
C |
5: 120,871,546 (GRCm39) |
K699R |
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,810,100 (GRCm39) |
D87G |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,698 (GRCm39) |
F413L |
probably benign |
Het |
Or2c1 |
C |
T |
16: 3,656,951 (GRCm39) |
T38M |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,347,796 (GRCm39) |
T224A |
probably benign |
Het |
Pknox2 |
A |
G |
9: 36,805,709 (GRCm39) |
S367P |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,671,905 (GRCm39) |
|
probably null |
Het |
Ppm1e |
G |
A |
11: 87,122,356 (GRCm39) |
P534S |
probably damaging |
Het |
Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,717,726 (GRCm39) |
N1924S |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Samd12 |
T |
A |
15: 53,583,067 (GRCm39) |
H89L |
possibly damaging |
Het |
Sephs1 |
T |
A |
2: 4,901,571 (GRCm39) |
V211E |
probably benign |
Het |
Setx |
C |
T |
2: 29,038,627 (GRCm39) |
T1704I |
probably benign |
Het |
Sltm |
T |
C |
9: 70,486,651 (GRCm39) |
S439P |
possibly damaging |
Het |
Sort1 |
G |
T |
3: 108,253,994 (GRCm39) |
Q553H |
probably damaging |
Het |
Svs5 |
G |
T |
2: 164,079,667 (GRCm39) |
T80N |
probably benign |
Het |
Tanc1 |
C |
A |
2: 59,626,179 (GRCm39) |
T512K |
probably damaging |
Het |
Tas2r139 |
T |
A |
6: 42,118,432 (GRCm39) |
V188E |
probably damaging |
Het |
Tesk2 |
C |
T |
4: 116,598,909 (GRCm39) |
R6W |
probably benign |
Het |
Tex101 |
G |
T |
7: 24,367,793 (GRCm39) |
C186* |
probably null |
Het |
Timp2 |
C |
T |
11: 118,194,598 (GRCm39) |
S197N |
probably benign |
Het |
Tmem37 |
A |
T |
1: 119,995,979 (GRCm39) |
C33S |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,410,235 (GRCm39) |
D245G |
probably benign |
Het |
Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,128,071 (GRCm39) |
N694K |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,614,123 (GRCm39) |
V1277A |
probably damaging |
Het |
Vmn2r100 |
C |
T |
17: 19,752,216 (GRCm39) |
S753F |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
Zap70 |
G |
T |
1: 36,817,539 (GRCm39) |
A261S |
probably benign |
Het |
Zdhhc6 |
A |
G |
19: 55,302,741 (GRCm39) |
W87R |
probably damaging |
Het |
Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,012,981 (GRCm39) |
F501S |
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 |
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 |
|
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'- CTATCCACAGTGCCAGCAATGG -3'
(R):5'- TTTCCTGGCCTCTCAGAGTG -3'
Sequencing Primer
(F):5'- GAAAAATGTCCCAACTCTGGTG -3'
(R):5'- TCTCAGAGTGCCGACCGAG -3'
|
Posted On |
2015-10-08 |