Incidental Mutation 'R7496:Shtn1'
ID |
581104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shtn1
|
Ensembl Gene |
ENSMUSG00000041362 |
Gene Name |
shootin 1 |
Synonyms |
shootin1, 4930506M07Rik |
MMRRC Submission |
045569-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7496 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
58961788-59064532 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59016616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 228
(R228C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047511]
[ENSMUST00000163821]
|
AlphaFold |
Q8K2Q9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047511
AA Change: R228C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041378 Gene: ENSMUSG00000041362 AA Change: R228C
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: R228C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126227 Gene: ENSMUSG00000041362 AA Change: R228C
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
T |
C |
16: 56,553,220 (GRCm39) |
I626V |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ago1 |
C |
T |
4: 126,355,545 (GRCm39) |
R88H |
probably benign |
Het |
Ankrd6 |
C |
T |
4: 32,810,299 (GRCm39) |
D461N |
probably damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,404,417 (GRCm39) |
N202D |
probably benign |
Het |
Bnip2 |
A |
G |
9: 69,910,686 (GRCm39) |
I245V |
probably damaging |
Het |
Cdhr3 |
T |
C |
12: 33,110,264 (GRCm39) |
D340G |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,411,066 (GRCm39) |
E1653G |
probably damaging |
Het |
Dhdds |
C |
A |
4: 133,698,565 (GRCm39) |
Q256H |
possibly damaging |
Het |
Dsc2 |
A |
T |
18: 20,168,451 (GRCm39) |
C669* |
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,135,015 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,044,460 (GRCm39) |
S276P |
probably benign |
Het |
Galc |
A |
T |
12: 98,225,497 (GRCm39) |
L31* |
probably null |
Het |
Gm527 |
C |
T |
12: 64,969,184 (GRCm39) |
R204C |
possibly damaging |
Het |
Hivep3 |
G |
A |
4: 119,989,599 (GRCm39) |
D2017N |
probably benign |
Het |
Inf2 |
C |
T |
12: 112,566,752 (GRCm39) |
R106C |
probably damaging |
Het |
Itgb1 |
A |
G |
8: 129,446,786 (GRCm39) |
K434E |
probably benign |
Het |
Lamb1 |
A |
C |
12: 31,350,020 (GRCm39) |
N700T |
probably benign |
Het |
Macc1 |
T |
G |
12: 119,410,734 (GRCm39) |
F501V |
possibly damaging |
Het |
Man2a2 |
G |
A |
7: 80,002,745 (GRCm39) |
H1079Y |
probably damaging |
Het |
Nedd4l |
G |
A |
18: 65,213,089 (GRCm39) |
V82I |
possibly damaging |
Het |
Nr2f1 |
T |
C |
13: 78,343,361 (GRCm39) |
E301G |
probably damaging |
Het |
Or10ag59 |
A |
G |
2: 87,405,715 (GRCm39) |
R96G |
probably damaging |
Het |
Or2ag13 |
A |
G |
7: 106,313,435 (GRCm39) |
L151P |
probably benign |
Het |
Or4a73 |
T |
C |
2: 89,421,040 (GRCm39) |
I140V |
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,212,004 (GRCm39) |
V844I |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,787,333 (GRCm39) |
E570G |
possibly damaging |
Het |
R3hdm4 |
A |
T |
10: 79,752,708 (GRCm39) |
L4Q |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,318,415 (GRCm39) |
K639R |
probably null |
Het |
Robo3 |
A |
T |
9: 37,339,121 (GRCm39) |
C257S |
probably damaging |
Het |
Rprd2 |
A |
T |
3: 95,673,087 (GRCm39) |
L772Q |
probably damaging |
Het |
Sall2 |
T |
C |
14: 52,553,018 (GRCm39) |
D59G |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,016,579 (GRCm39) |
T450A |
probably benign |
Het |
Sdhd |
T |
C |
9: 50,508,385 (GRCm39) |
*160W |
probably null |
Het |
Sgca |
T |
C |
11: 94,862,070 (GRCm39) |
E194G |
possibly damaging |
Het |
Skor1 |
A |
T |
9: 63,054,132 (GRCm39) |
S22T |
probably benign |
Het |
Slc26a8 |
C |
A |
17: 28,863,824 (GRCm39) |
G645V |
probably benign |
Het |
Smtn |
T |
C |
11: 3,479,988 (GRCm39) |
E411G |
probably damaging |
Het |
Sox17 |
A |
G |
1: 4,562,550 (GRCm39) |
Y217H |
probably damaging |
Het |
Syk |
A |
G |
13: 52,766,452 (GRCm39) |
Q179R |
probably benign |
Het |
Tpp2 |
A |
G |
1: 44,022,677 (GRCm39) |
I959M |
probably benign |
Het |
Trim65 |
T |
A |
11: 116,017,142 (GRCm39) |
N440I |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,301,917 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 188,083,284 (GRCm39) |
S276P |
possibly damaging |
Het |
Vmn1r61 |
A |
G |
7: 5,613,430 (GRCm39) |
S295P |
probably benign |
Het |
Wdhd1 |
T |
C |
14: 47,511,481 (GRCm39) |
Q77R |
probably benign |
Het |
Xylb |
T |
A |
9: 119,220,882 (GRCm39) |
*552R |
probably null |
Het |
Zfp932 |
C |
T |
5: 110,156,694 (GRCm39) |
P131S |
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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTCATGACGCAGCAGCTC -3'
(R):5'- GCTAAGCTACCCTTCATAAAGCTC -3'
Sequencing Primer
(F):5'- TCAGTTGACACCTAACAGCTGTG -3'
(R):5'- TACCCTTCATAAAGCTCACCACTC -3'
|
Posted On |
2019-10-17 |