Incidental Mutation 'R3076:Shtn1'
| ID |
265240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shtn1
|
| Ensembl Gene |
ENSMUSG00000041362 |
| Gene Name |
shootin 1 |
| Synonyms |
shootin1, 4930506M07Rik |
| MMRRC Submission |
040566-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
58961788-59064532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58983518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 471
(E471G)
|
| 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: E471G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: E471G
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Amigo2 |
C |
T |
15: 97,143,315 (GRCm39) |
R369Q |
probably damaging |
Het |
| Aopep |
A |
C |
13: 63,387,929 (GRCm39) |
D3A |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,622,446 (GRCm39) |
L504Q |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,679,498 (GRCm39) |
V932A |
possibly damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,924,762 (GRCm39) |
K9R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,089,499 (GRCm39) |
Y365C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,818,725 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
A |
T |
2: 28,725,165 (GRCm39) |
V189E |
possibly damaging |
Het |
| Khdc3 |
C |
A |
9: 73,010,212 (GRCm39) |
F89L |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,734,668 (GRCm39) |
Q393R |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
| Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
C |
T |
7: 143,335,033 (GRCm39) |
A157T |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,498,879 (GRCm39) |
V76I |
possibly damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,768 (GRCm39) |
W1702R |
probably damaging |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,542 (GRCm39) |
T129A |
probably benign |
Het |
| Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,686 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,375 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,179,931 (GRCm39) |
S1450P |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,759,477 (GRCm39) |
I296T |
probably benign |
Het |
| St7 |
T |
G |
6: 17,846,237 (GRCm39) |
Y163* |
probably null |
Het |
| Svil |
T |
C |
18: 5,116,055 (GRCm39) |
S1623P |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,335 (GRCm39) |
A310T |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAGCCAGGACTTCTCAC -3'
(R):5'- GTGTGTGCCAGTTTGAGAAAC -3'
Sequencing Primer
(F):5'- TGAAAGATGATGTCATGGG -3'
(R):5'- TTGAGAAACTCACACATAGACATCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation