Incidental Mutation 'IGL03400:Shtn1'
| ID |
421401 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shtn1
|
| Ensembl Gene |
ENSMUSG00000041362 |
| Gene Name |
shootin 1 |
| Synonyms |
shootin1, 4930506M07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58961788-59064532 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 59020690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047511]
[ENSMUST00000163821]
|
| AlphaFold |
Q8K2Q9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047511
|
| SMART Domains |
Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
233 |
N/A |
INTRINSIC |
|
coiled coil region
|
259 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163821
|
| SMART Domains |
Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
59 |
77 |
1.42e-6 |
PROSPERO |
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
207 |
225 |
1.42e-6 |
PROSPERO |
|
coiled coil region
|
259 |
353 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bmp3 |
T |
C |
5: 99,019,957 (GRCm39) |
S127P |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,607,724 (GRCm39) |
S761P |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,324,486 (GRCm39) |
V185A |
probably benign |
Het |
| Ces3b |
A |
G |
8: 105,819,568 (GRCm39) |
T495A |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,708,914 (GRCm39) |
D413E |
probably benign |
Het |
| Cyp4f16 |
A |
G |
17: 32,769,327 (GRCm39) |
I406V |
probably benign |
Het |
| Efcab6 |
A |
T |
15: 83,751,246 (GRCm39) |
|
probably benign |
Het |
| Emsy |
A |
G |
7: 98,251,933 (GRCm39) |
V703A |
possibly damaging |
Het |
| Fancb |
T |
C |
X: 163,778,587 (GRCm39) |
S587P |
possibly damaging |
Het |
| Farp1 |
A |
G |
14: 121,444,733 (GRCm39) |
Y80C |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,918,151 (GRCm39) |
|
probably null |
Het |
| Fgf13 |
A |
G |
X: 58,171,248 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,755 (GRCm39) |
K288R |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,191,424 (GRCm39) |
N458S |
unknown |
Het |
| Nek11 |
C |
T |
9: 105,082,065 (GRCm39) |
A513T |
probably benign |
Het |
| Or10a3m |
A |
C |
7: 108,312,733 (GRCm39) |
I46L |
probably benign |
Het |
| Or11q2 |
T |
A |
X: 48,772,781 (GRCm39) |
L134Q |
probably damaging |
Het |
| Or2ah1 |
T |
C |
2: 85,654,094 (GRCm39) |
Y260H |
probably damaging |
Het |
| Palld |
G |
T |
8: 61,966,489 (GRCm39) |
A630E |
probably damaging |
Het |
| Pdk1 |
T |
C |
2: 71,726,091 (GRCm39) |
M333T |
probably benign |
Het |
| Rab9 |
T |
C |
X: 165,240,744 (GRCm39) |
N189S |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,638 (GRCm39) |
I339V |
probably damaging |
Het |
| Spns3 |
A |
G |
11: 72,390,501 (GRCm39) |
V418A |
possibly damaging |
Het |
| St14 |
T |
A |
9: 31,008,267 (GRCm39) |
|
probably benign |
Het |
| Tedc2 |
T |
C |
17: 24,438,777 (GRCm39) |
D180G |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,236,459 (GRCm39) |
I523T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,551,208 (GRCm39) |
M23068L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,579,266 (GRCm39) |
M15549V |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,992,302 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,806,345 (GRCm39) |
Y329C |
probably benign |
Het |
| Zmym4 |
G |
T |
4: 126,816,920 (GRCm39) |
D259E |
probably benign |
Het |
|
| Other mutations in Shtn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Shtn1
|
APN |
19 |
59,007,384 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01619:Shtn1
|
APN |
19 |
59,016,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01880:Shtn1
|
APN |
19 |
59,063,881 (GRCm39) |
splice site |
probably benign |
|
|
IGL02214:Shtn1
|
APN |
19 |
58,988,318 (GRCm39) |
splice site |
probably benign |
|
|
R0011:Shtn1
|
UTSW |
19 |
59,020,650 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0011:Shtn1
|
UTSW |
19 |
59,020,650 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0299:Shtn1
|
UTSW |
19 |
59,007,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0606:Shtn1
|
UTSW |
19 |
58,988,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1081:Shtn1
|
UTSW |
19 |
58,963,447 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1212:Shtn1
|
UTSW |
19 |
59,039,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Shtn1
|
UTSW |
19 |
58,998,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Shtn1
|
UTSW |
19 |
59,020,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1966:Shtn1
|
UTSW |
19 |
58,963,470 (GRCm39) |
missense |
probably benign |
|
|
R3076:Shtn1
|
UTSW |
19 |
58,983,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Shtn1
|
UTSW |
19 |
58,963,470 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3736:Shtn1
|
UTSW |
19 |
59,010,700 (GRCm39) |
missense |
probably benign |
|
|
R4615:Shtn1
|
UTSW |
19 |
59,010,648 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4789:Shtn1
|
UTSW |
19 |
59,039,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4791:Shtn1
|
UTSW |
19 |
59,039,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4792:Shtn1
|
UTSW |
19 |
59,039,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4939:Shtn1
|
UTSW |
19 |
59,010,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5245:Shtn1
|
UTSW |
19 |
59,020,652 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5387:Shtn1
|
UTSW |
19 |
59,026,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Shtn1
|
UTSW |
19 |
59,020,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Shtn1
|
UTSW |
19 |
58,963,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Shtn1
|
UTSW |
19 |
59,026,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7030:Shtn1
|
UTSW |
19 |
58,998,266 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7143:Shtn1
|
UTSW |
19 |
59,007,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7487:Shtn1
|
UTSW |
19 |
58,992,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7496:Shtn1
|
UTSW |
19 |
59,016,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Shtn1
|
UTSW |
19 |
58,992,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8209:Shtn1
|
UTSW |
19 |
58,992,328 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8226:Shtn1
|
UTSW |
19 |
58,992,328 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8290:Shtn1
|
UTSW |
19 |
58,988,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Shtn1
|
UTSW |
19 |
58,978,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Shtn1
|
UTSW |
19 |
58,998,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9496:Shtn1
|
UTSW |
19 |
58,963,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Shtn1
|
UTSW |
19 |
59,026,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation