Incidental Mutation 'R5030:Auts2'
| ID |
391615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
| MMRRC Submission |
042621-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131472336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 581
(V581A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161374]
[ENSMUST00000161804]
[ENSMUST00000187544]
|
| AlphaFold |
A0A087WPF7 |
| 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
AA Change: V357A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: V357A
| 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
AA Change: V372A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: V372A
| 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 |
noncoding transcript
Transcript: ENSMUST00000162979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187544
AA Change: V581A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: V581A
| 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: ENSMUST00000182974
|
| Meta Mutation Damage Score |
0.0706 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (87/89) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
C |
5: 26,684,783 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
A |
T |
7: 119,939,224 (GRCm39) |
E206V |
probably damaging |
Het |
| Acy1 |
A |
G |
9: 106,310,596 (GRCm39) |
F343L |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,229,645 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,607,948 (GRCm39) |
D4041E |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,129,102 (GRCm39) |
S166P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,431,409 (GRCm39) |
Y316* |
probably null |
Het |
| Atp1a1 |
T |
C |
3: 101,487,133 (GRCm39) |
D892G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,997,548 (GRCm39) |
|
probably benign |
Het |
| Boll |
T |
A |
1: 55,394,894 (GRCm39) |
N57I |
probably damaging |
Het |
| C1s2 |
A |
C |
6: 124,612,547 (GRCm39) |
V36G |
possibly damaging |
Het |
| Capza1 |
T |
C |
3: 104,748,154 (GRCm39) |
Y70C |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,668,950 (GRCm39) |
S292P |
possibly damaging |
Het |
| Cemip2 |
T |
G |
19: 21,819,469 (GRCm39) |
F1087V |
probably benign |
Het |
| Cyp2g1 |
T |
G |
7: 26,520,226 (GRCm39) |
V486G |
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,080,454 (GRCm39) |
T49S |
possibly damaging |
Het |
| Dhx58 |
A |
T |
11: 100,586,963 (GRCm39) |
I610N |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,478,502 (GRCm39) |
N455K |
probably damaging |
Het |
| Fam170a |
T |
A |
18: 50,415,021 (GRCm39) |
N222K |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,254,624 (GRCm39) |
V213A |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,339,876 (GRCm39) |
D723A |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,818,836 (GRCm39) |
K4856N |
possibly damaging |
Het |
| Galnt17 |
A |
G |
5: 130,905,351 (GRCm39) |
V571A |
probably damaging |
Het |
| Gm6124 |
A |
G |
7: 38,872,454 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8973 |
A |
G |
15: 98,904,136 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
A |
G |
2: 57,194,417 (GRCm39) |
T107A |
probably damaging |
Het |
| Hsd17b11 |
G |
A |
5: 104,151,158 (GRCm39) |
A192V |
probably damaging |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,426 (GRCm39) |
Q4* |
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,112 (GRCm39) |
I1221T |
probably benign |
Het |
| Klhl9 |
G |
T |
4: 88,638,771 (GRCm39) |
T490K |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,571 (GRCm39) |
V28A |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,425,675 (GRCm39) |
P1419S |
unknown |
Het |
| Man2c1 |
A |
G |
9: 57,047,923 (GRCm39) |
H843R |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,682 (GRCm39) |
K680E |
unknown |
Het |
| Metap2 |
A |
T |
10: 93,715,539 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,843,949 (GRCm39) |
I340N |
possibly damaging |
Het |
| Mgll |
T |
C |
6: 88,795,647 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,691,998 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
A |
T |
9: 26,983,062 (GRCm39) |
I937F |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,747,030 (GRCm39) |
S416P |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,678,308 (GRCm39) |
W95R |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t26 |
A |
T |
11: 49,039,188 (GRCm39) |
M35L |
probably benign |
Het |
| Or5p76 |
T |
A |
7: 108,122,384 (GRCm39) |
I258F |
possibly damaging |
Het |
| Or7e175 |
A |
T |
9: 20,049,363 (GRCm39) |
K317M |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,501 (GRCm39) |
S509T |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,198,207 (GRCm39) |
V296A |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,494 (GRCm39) |
L50* |
probably null |
Het |
| Plcl2 |
G |
T |
17: 50,914,347 (GRCm39) |
R452L |
possibly damaging |
Het |
| Poldip3 |
A |
T |
15: 83,022,392 (GRCm39) |
F131I |
possibly damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,076,209 (GRCm39) |
|
probably benign |
Het |
| Rffl |
G |
A |
11: 82,703,543 (GRCm39) |
R127* |
probably null |
Het |
| Sec24d |
T |
A |
3: 123,152,550 (GRCm39) |
V854E |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,918 (GRCm39) |
L1034* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Spaca1 |
A |
T |
4: 34,039,247 (GRCm39) |
N95K |
possibly damaging |
Het |
| Spag17 |
C |
T |
3: 99,992,657 (GRCm39) |
Q1718* |
probably null |
Het |
| Spdl1 |
C |
T |
11: 34,714,267 (GRCm39) |
A141T |
probably benign |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Supv3l1 |
G |
T |
10: 62,266,394 (GRCm39) |
A594D |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,866,255 (GRCm39) |
N483S |
possibly damaging |
Het |
| Tonsl |
A |
T |
15: 76,522,301 (GRCm39) |
C231S |
probably damaging |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,305 (GRCm39) |
F53S |
possibly damaging |
Het |
| Trgv7 |
G |
T |
13: 19,362,558 (GRCm39) |
L82F |
probably damaging |
Het |
| Trim45 |
T |
G |
3: 100,835,388 (GRCm39) |
V457G |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,885,579 (GRCm39) |
I865N |
probably damaging |
Het |
| Trpm3 |
C |
A |
19: 22,676,130 (GRCm39) |
L99I |
probably benign |
Het |
| Twist1 |
T |
A |
12: 34,008,440 (GRCm39) |
L155Q |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,437,018 (GRCm39) |
E577G |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,881 (GRCm39) |
V209A |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,198,288 (GRCm39) |
G1200R |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 74,990,990 (GRCm39) |
D290N |
possibly damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,725,263 (GRCm39) |
T585A |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,156,155 (GRCm39) |
D262E |
unknown |
Het |
| Zfp777 |
G |
T |
6: 48,014,601 (GRCm39) |
D368E |
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 |
|
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'- ATGGCCTCTCGGTACTGACTTG -3'
(R):5'- ACTCAGTGTTCGGCCACAAG -3'
Sequencing Primer
(F):5'- TGCCCCTGCAGAGTAAGC -3'
(R):5'- TGTTCGGCCACAAGGATAGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation