Incidental Mutation 'R9348:Auts2'
| ID |
707914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131490155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 165
(T165A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161374]
[ENSMUST00000161804]
[ENSMUST00000187544]
|
| AlphaFold |
A0A087WPF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161374
AA Change: T150A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: T150A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: T165A
| 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 |
probably benign
Transcript: ENSMUST00000162101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187544
AA Change: T374A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: T374A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
C |
T |
8: 41,208,953 (GRCm39) |
P740S |
probably benign |
Het |
| Arfgef1 |
G |
T |
1: 10,283,419 (GRCm39) |
H163Q |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,099,049 (GRCm39) |
S579P |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,160,766 (GRCm39) |
S546T |
probably benign |
Het |
| C4b |
C |
T |
17: 34,952,159 (GRCm39) |
V1229I |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,262 (GRCm39) |
D895G |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,820,838 (GRCm39) |
S296P |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,076 (GRCm39) |
S51P |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,717,708 (GRCm39) |
H545R |
unknown |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
T |
A |
8: 70,951,316 (GRCm39) |
I65K |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,421,256 (GRCm39) |
M1V |
probably null |
Het |
| Cyb5d1 |
T |
A |
11: 69,285,830 (GRCm39) |
I69L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,337 (GRCm39) |
D213G |
probably benign |
Het |
| Dennd5a |
C |
G |
7: 109,498,930 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
T |
A |
7: 109,498,942 (GRCm39) |
M998L |
probably benign |
Het |
| E2f1 |
T |
A |
2: 154,402,755 (GRCm39) |
E382D |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,102,772 (GRCm39) |
T395S |
probably benign |
Het |
| Gm20939 |
A |
G |
17: 95,182,977 (GRCm39) |
E71G |
probably damaging |
Het |
| Hs1bp3 |
T |
A |
12: 8,386,273 (GRCm39) |
V225E |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,943,427 (GRCm39) |
M1T |
probably null |
Het |
| Ifi205 |
T |
C |
1: 173,844,997 (GRCm39) |
I262V |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,380 (GRCm39) |
Y147C |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
| Kif3c |
A |
G |
12: 3,417,505 (GRCm39) |
T509A |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,875,490 (GRCm39) |
N351K |
probably benign |
Het |
| Ndufaf3 |
C |
A |
9: 108,443,357 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
C |
T |
7: 19,757,336 (GRCm39) |
T191I |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,921,789 (GRCm39) |
L233P |
probably damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,289 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or2g1 |
T |
C |
17: 38,106,992 (GRCm39) |
I219T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2w1 |
T |
A |
13: 21,317,131 (GRCm39) |
F62Y |
possibly damaging |
Het |
| Preb |
A |
G |
5: 31,112,995 (GRCm39) |
F416L |
probably benign |
Het |
| Prickle2 |
C |
T |
6: 92,397,243 (GRCm39) |
V217I |
probably benign |
Het |
| Prss45 |
T |
A |
9: 110,668,278 (GRCm39) |
I157N |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,429,232 (GRCm39) |
T338A |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,745,206 (GRCm39) |
F517S |
probably damaging |
Het |
| Srpk2 |
A |
T |
5: 23,719,671 (GRCm39) |
F578I |
probably damaging |
Het |
| Stx2 |
A |
T |
5: 129,076,601 (GRCm39) |
D27E |
probably benign |
Het |
| Tgfbrap1 |
A |
G |
1: 43,093,695 (GRCm39) |
I599T |
probably benign |
Het |
| Trim25 |
G |
T |
11: 88,900,167 (GRCm39) |
E305* |
probably null |
Het |
| Ttll7 |
T |
A |
3: 146,673,768 (GRCm39) |
I821N |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,954,186 (GRCm39) |
D23V |
|
Het |
| Zfp141 |
C |
A |
7: 42,124,814 (GRCm39) |
E553* |
probably null |
Het |
| Zfyve26 |
T |
C |
12: 79,315,231 (GRCm39) |
D1415G |
possibly damaging |
Het |
| Zpbp2 |
C |
T |
11: 98,442,141 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- AGCCACGTCATTCATGCAATC -3'
(R):5'- CCTAGTCCAGTGGTATCCTTATATGC -3'
Sequencing Primer
(F):5'- CTGCGACTTCTAACATAACTGGATC -3'
(R):5'- TCCATGTTCAGAGAGACCCTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation