Incidental Mutation 'IGL01619:Shtn1'
| ID |
92480 |
| 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 # |
IGL01619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58961788-59064532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59016601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 233
(S233P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047511]
[ENSMUST00000163821]
|
| AlphaFold |
Q8K2Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047511
AA Change: S233P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: S233P
| 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 damaging
Transcript: ENSMUST00000163821
AA Change: S233P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
AA Change: S233P
| 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 |
|---|
| Ankrd46 |
T |
C |
15: 36,486,113 (GRCm39) |
T47A |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,656,385 (GRCm39) |
V1465G |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,756 (GRCm39) |
D1657V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,427,814 (GRCm39) |
T170I |
possibly damaging |
Het |
| Cntn6 |
G |
A |
6: 104,705,335 (GRCm39) |
|
probably benign |
Het |
| Def6 |
C |
T |
17: 28,426,838 (GRCm39) |
L8F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,722,441 (GRCm39) |
K1940* |
probably null |
Het |
| Dock10 |
A |
G |
1: 80,612,015 (GRCm39) |
|
probably benign |
Het |
| Fam72a |
A |
G |
1: 131,461,650 (GRCm39) |
I112V |
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,650,008 (GRCm39) |
W258R |
probably damaging |
Het |
| Ints6l |
G |
T |
X: 55,542,104 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
T |
15: 7,220,643 (GRCm39) |
N1091I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,762,309 (GRCm39) |
I1100T |
possibly damaging |
Het |
| Mrpl40 |
T |
A |
16: 18,691,294 (GRCm39) |
M139L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,351,471 (GRCm39) |
|
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,104,909 (GRCm39) |
T195S |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,992 (GRCm39) |
F791L |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,299,900 (GRCm39) |
|
probably null |
Het |
| Serpinb9e |
A |
G |
13: 33,439,108 (GRCm39) |
K178R |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,204,549 (GRCm39) |
V143M |
possibly damaging |
Het |
| Terb1 |
G |
A |
8: 105,199,646 (GRCm39) |
H433Y |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,520,443 (GRCm39) |
Q164* |
probably null |
Het |
| Trip12 |
C |
A |
1: 84,792,631 (GRCm39) |
R4L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,693,879 (GRCm39) |
P208S |
possibly damaging |
Het |
| Ube2c |
T |
C |
2: 164,613,232 (GRCm39) |
I50T |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,200,775 (GRCm39) |
D1174G |
probably damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,041,997 (GRCm39) |
M387L |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,510,229 (GRCm39) |
N48I |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,490,517 (GRCm39) |
L217P |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,062,414 (GRCm39) |
E129V |
probably damaging |
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 |
|
IGL01880:Shtn1
|
APN |
19 |
59,063,881 (GRCm39) |
splice site |
probably benign |
|
|
IGL02214:Shtn1
|
APN |
19 |
58,988,318 (GRCm39) |
splice site |
probably benign |
|
|
IGL03400:Shtn1
|
APN |
19 |
59,020,690 (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 |
2013-12-09 |
Incidental Mutation