Incidental Mutation 'R0033:Auts2'
| ID |
64545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Auts2
|
| Ensembl Gene |
ENSMUSG00000029673 |
| Gene Name |
autism susceptibility candidate 2 |
| Synonyms |
D830032G16Rik, A730011F23Rik, 2700063G02Rik |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
85 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
131466171-132572059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 131468931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 571
(D571E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124730
(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 damaging
Transcript: ENSMUST00000161374
AA Change: D571E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: D571E
| 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: D586E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: D586E
| 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: ENSMUST00000182575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182974
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187544
AA Change: D795E
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: D795E
| 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 |
0.0604 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
100% (81/81) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,115,794 (GRCm39) |
F110L |
probably damaging |
Het |
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Ankib1 |
A |
C |
5: 3,819,588 (GRCm39) |
D110E |
possibly damaging |
Het |
| Cacna1d |
T |
A |
14: 29,827,446 (GRCm39) |
Q993L |
probably damaging |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
G |
T |
17: 71,582,009 (GRCm39) |
T239K |
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,377,017 (GRCm39) |
V151A |
probably damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,866,026 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,424,710 (GRCm39) |
D310G |
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,223,737 (GRCm39) |
|
probably benign |
Het |
| Hapln1 |
A |
T |
13: 89,749,932 (GRCm39) |
Q159L |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,142,131 (GRCm39) |
Y382* |
probably null |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,946,359 (GRCm39) |
C489S |
probably damaging |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Macc1 |
T |
A |
12: 119,410,076 (GRCm39) |
N281K |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Myoc |
G |
A |
1: 162,476,010 (GRCm39) |
G238E |
probably damaging |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,572 (GRCm39) |
|
probably benign |
Het |
| Oplah |
T |
A |
15: 76,181,334 (GRCm39) |
Q1202L |
probably benign |
Het |
| Or5p62 |
G |
T |
7: 107,771,134 (GRCm39) |
D272E |
probably benign |
Het |
| Or9s23 |
A |
G |
1: 92,500,982 (GRCm39) |
T30A |
probably benign |
Het |
| Ppargc1b |
G |
A |
18: 61,440,765 (GRCm39) |
R718W |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,881 (GRCm39) |
Y284F |
probably benign |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,085 (GRCm39) |
L88P |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,055,929 (GRCm39) |
D820G |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,674,111 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,805,864 (GRCm39) |
A72T |
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Stap2 |
C |
T |
17: 56,306,976 (GRCm39) |
V234M |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Tdp1 |
C |
T |
12: 99,901,311 (GRCm39) |
T531I |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Trav6n-5 |
T |
A |
14: 53,342,368 (GRCm39) |
M14K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,572,624 (GRCm39) |
I26090F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,123 (GRCm39) |
R369L |
probably benign |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,959,991 (GRCm39) |
T597A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,387 (GRCm39) |
I281K |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,433 (GRCm39) |
V109A |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,214,627 (GRCm39) |
M773L |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
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 |
|
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 |
|
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'- TGTAATCATGAGGCTCCCTGTCCC -3'
(R):5'- AGATCACGACCTACCTACTGAGGC -3'
Sequencing Primer
(F):5'- TCGGCTTCATACAACCGGG -3'
(R):5'- TACCTACTGAGGCCCCCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation