Incidental Mutation 'R0011:Shtn1'
| ID |
7925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shtn1
|
| Ensembl Gene |
ENSMUSG00000041362 |
| Gene Name |
shootin 1 |
| Synonyms |
shootin1, 4930506M07Rik |
| MMRRC Submission |
038306-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0011 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
58961788-59064532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59020650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 191
(S191P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047511]
[ENSMUST00000163821]
|
| AlphaFold |
Q8K2Q9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047511
AA Change: S191P
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: S191P
| 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 |
possibly damaging
Transcript: ENSMUST00000163821
AA Change: S191P
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
AA Change: S191P
| 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 |
|
| Meta Mutation Damage Score |
0.0613 |
| Coding Region Coverage |
- 1x: 78.3%
- 3x: 67.8%
- 10x: 41.6%
- 20x: 22.3%
|
| Validation Efficiency |
92% (85/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
| Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
| Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,038,290 (GRCm39) |
|
probably benign |
Het |
| Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
| Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ift70a2 |
T |
A |
2: 75,806,561 (GRCm39) |
R650S |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
| Krt35 |
T |
A |
11: 99,984,502 (GRCm39) |
Q331L |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
C |
17: 87,987,521 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
A |
C |
12: 4,372,896 (GRCm39) |
F57L |
possibly damaging |
Het |
| Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,897,335 (GRCm39) |
S802P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,833,048 (GRCm39) |
S152P |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
| Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
| Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
| Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
| Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
| Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
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 |
|
|
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 |
|
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 |
2012-11-20 |
Incidental Mutation