Incidental Mutation 'R7357:Stil'
| ID |
571019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stil
|
| Ensembl Gene |
ENSMUSG00000028718 |
| Gene Name |
Scl/Tal1 interrupting locus |
| Synonyms |
Sil |
| MMRRC Submission |
045443-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
114857356-114900393 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 114871423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030490]
[ENSMUST00000129957]
[ENSMUST00000141933]
[ENSMUST00000147519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030490
|
| SMART Domains |
Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STIL_N
|
22 |
426 |
5.1e-199 |
PFAM |
|
low complexity region
|
709 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
1106 |
1118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129957
|
| SMART Domains |
Protein: ENSMUSP00000123385
Gene: ENSMUSG00000028718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STIL_N
|
22 |
416 |
1.5e-180 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141933
|
| SMART Domains |
Protein: ENSMUSP00000118849
Gene: ENSMUSG00000028718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STIL_N
|
22 |
392 |
6.6e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147519
|
| SMART Domains |
Protein: ENSMUSP00000120836
Gene: ENSMUSG00000028718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STIL_N
|
1 |
78 |
5.3e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
97% (64/66) |
| MGI Phenotype |
FUNCTION: This gene encodes a centrosomal protein ubiquitously expressed in proliferating cells and during early embryonic development. Mice lacking the encoded protein die in utero with marked growth retardation, defects in the developing neural fold and randomization of left-right asymmetry. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos with various neural tube defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
T |
2: 155,845,787 (GRCm39) |
H23Q |
unknown |
Het |
| 9530068E07Rik |
A |
T |
11: 52,297,821 (GRCm39) |
K233I |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,350,408 (GRCm39) |
M320V |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,079,310 (GRCm39) |
N838S |
|
Het |
| Cacna1s |
T |
C |
1: 135,998,759 (GRCm39) |
F218S |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,728,590 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
A |
T |
11: 114,784,153 (GRCm39) |
T54S |
probably benign |
Het |
| Celf3 |
G |
A |
3: 94,387,637 (GRCm39) |
E70K |
probably damaging |
Het |
| Celsr1 |
A |
C |
15: 85,914,715 (GRCm39) |
M1086R |
probably benign |
Het |
| Ces2f |
G |
A |
8: 105,676,595 (GRCm39) |
M96I |
probably benign |
Het |
| Chrdl2 |
G |
A |
7: 99,678,414 (GRCm39) |
V329I |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,925,568 (GRCm39) |
L1035Q |
probably benign |
Het |
| Dbi |
A |
G |
1: 120,047,623 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,882,568 (GRCm39) |
I405T |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,217,421 (GRCm39) |
W59R |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,672,840 (GRCm39) |
I837N |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,387,308 (GRCm39) |
V229A |
probably benign |
Het |
| Fermt3 |
T |
C |
19: 6,980,211 (GRCm39) |
T395A |
probably benign |
Het |
| Focad |
A |
T |
4: 88,147,572 (GRCm39) |
I404F |
probably benign |
Het |
| Gm8104 |
T |
C |
14: 42,959,068 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm9857 |
A |
C |
3: 108,847,478 (GRCm39) |
L95R |
unknown |
Het |
| Hoxa1 |
A |
T |
6: 52,133,929 (GRCm39) |
S266T |
probably benign |
Het |
| Kif19b |
A |
G |
5: 140,480,806 (GRCm39) |
R979G |
possibly damaging |
Het |
| Leng8 |
T |
A |
7: 4,147,932 (GRCm39) |
Y625* |
probably null |
Het |
| Mast3 |
A |
G |
8: 71,237,503 (GRCm39) |
V557A |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,442,953 (GRCm39) |
F813L |
probably benign |
Het |
| Ntf3 |
T |
A |
6: 126,078,961 (GRCm39) |
I182F |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,870,642 (GRCm39) |
A91E |
probably benign |
Het |
| Or13l2 |
G |
C |
3: 97,317,971 (GRCm39) |
N175K |
probably damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,978 (GRCm39) |
D212E |
probably damaging |
Het |
| Pamr1 |
G |
A |
2: 102,417,049 (GRCm39) |
W120* |
probably null |
Het |
| Pcsk1 |
A |
G |
13: 75,274,079 (GRCm39) |
N436S |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,622,857 (GRCm39) |
K1451E |
probably benign |
Het |
| Pebp4 |
G |
A |
14: 70,285,864 (GRCm39) |
V176I |
possibly damaging |
Het |
| Phgdh |
G |
A |
3: 98,247,138 (GRCm39) |
A4V |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,610,791 (GRCm39) |
|
probably null |
Het |
| Ppic |
T |
C |
18: 53,544,139 (GRCm39) |
Y82C |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,895,424 (GRCm39) |
V704A |
probably benign |
Het |
| Pramel6 |
G |
T |
2: 87,340,856 (GRCm39) |
R396L |
not run |
Het |
| Prss48 |
A |
T |
3: 85,904,528 (GRCm39) |
D223E |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,574,149 (GRCm39) |
K11E |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,169,608 (GRCm39) |
K780E |
probably damaging |
Het |
| Retreg1 |
A |
T |
15: 25,972,029 (GRCm39) |
D323V |
probably damaging |
Het |
| Samd11 |
A |
T |
4: 156,340,067 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
T |
A |
11: 4,020,127 (GRCm39) |
F188Y |
probably benign |
Het |
| Serpina5 |
A |
T |
12: 104,069,639 (GRCm39) |
T284S |
possibly damaging |
Het |
| Setx |
A |
G |
2: 29,020,313 (GRCm39) |
D100G |
probably benign |
Het |
| Sis |
A |
T |
3: 72,832,404 (GRCm39) |
V1035D |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,113,930 (GRCm39) |
I456V |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,286,369 (GRCm39) |
C393S |
possibly damaging |
Het |
| Sult6b1 |
A |
G |
17: 79,202,059 (GRCm39) |
S148P |
probably damaging |
Het |
| Sycp2 |
G |
T |
2: 178,045,597 (GRCm39) |
|
probably null |
Het |
| Tesmin |
T |
C |
19: 3,447,042 (GRCm39) |
I273T |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,406,592 (GRCm39) |
Y310N |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,781 (GRCm39) |
D1258E |
probably damaging |
Het |
| Ttc12 |
A |
C |
9: 49,349,687 (GRCm39) |
D703E |
probably benign |
Het |
| Unc13c |
TATAA |
TATAATAA |
9: 73,840,810 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
ATA |
ATAGTA |
9: 73,840,811 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
T |
C |
6: 121,230,808 (GRCm39) |
I79T |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,333,656 (GRCm39) |
D1596E |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,536 (GRCm39) |
V607E |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,275,641 (GRCm39) |
R808K |
probably null |
Het |
| Zfp248 |
A |
G |
6: 118,406,618 (GRCm39) |
Y324H |
probably damaging |
Het |
| Zfp513 |
G |
A |
5: 31,357,132 (GRCm39) |
P387S |
possibly damaging |
Het |
|
| Other mutations in Stil |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Stil
|
APN |
4 |
114,881,309 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01672:Stil
|
APN |
4 |
114,889,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Stil
|
APN |
4 |
114,871,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02076:Stil
|
APN |
4 |
114,880,834 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02104:Stil
|
APN |
4 |
114,898,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Stil
|
APN |
4 |
114,867,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Stil
|
APN |
4 |
114,867,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Stil
|
APN |
4 |
114,880,893 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02695:Stil
|
APN |
4 |
114,873,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Stil
|
APN |
4 |
114,898,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02826:Stil
|
APN |
4 |
114,881,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02946:Stil
|
APN |
4 |
114,887,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03146:Stil
|
APN |
4 |
114,881,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB005:Stil
|
UTSW |
4 |
114,887,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB015:Stil
|
UTSW |
4 |
114,887,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0058:Stil
|
UTSW |
4 |
114,898,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:Stil
|
UTSW |
4 |
114,880,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0324:Stil
|
UTSW |
4 |
114,896,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0391:Stil
|
UTSW |
4 |
114,898,369 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0602:Stil
|
UTSW |
4 |
114,881,620 (GRCm39) |
splice site |
probably benign |
|
|
R0620:Stil
|
UTSW |
4 |
114,864,356 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1452:Stil
|
UTSW |
4 |
114,896,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Stil
|
UTSW |
4 |
114,881,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Stil
|
UTSW |
4 |
114,881,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1544:Stil
|
UTSW |
4 |
114,881,049 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1789:Stil
|
UTSW |
4 |
114,898,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1878:Stil
|
UTSW |
4 |
114,898,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Stil
|
UTSW |
4 |
114,881,072 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2325:Stil
|
UTSW |
4 |
114,889,904 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2401:Stil
|
UTSW |
4 |
114,873,483 (GRCm39) |
missense |
probably null |
0.81 |
|
R3054:Stil
|
UTSW |
4 |
114,862,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3055:Stil
|
UTSW |
4 |
114,871,266 (GRCm39) |
splice site |
probably benign |
|
|
R4097:Stil
|
UTSW |
4 |
114,880,797 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4330:Stil
|
UTSW |
4 |
114,862,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Stil
|
UTSW |
4 |
114,866,574 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4665:Stil
|
UTSW |
4 |
114,898,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Stil
|
UTSW |
4 |
114,898,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Stil
|
UTSW |
4 |
114,863,979 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4860:Stil
|
UTSW |
4 |
114,895,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4860:Stil
|
UTSW |
4 |
114,895,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4909:Stil
|
UTSW |
4 |
114,881,422 (GRCm39) |
nonsense |
probably null |
|
|
R6130:Stil
|
UTSW |
4 |
114,887,058 (GRCm39) |
splice site |
probably null |
|
|
R6523:Stil
|
UTSW |
4 |
114,889,911 (GRCm39) |
frame shift |
probably null |
|
|
R7294:Stil
|
UTSW |
4 |
114,864,480 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7387:Stil
|
UTSW |
4 |
114,881,233 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7592:Stil
|
UTSW |
4 |
114,881,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7776:Stil
|
UTSW |
4 |
114,890,035 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7908:Stil
|
UTSW |
4 |
114,889,896 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7928:Stil
|
UTSW |
4 |
114,887,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9064:Stil
|
UTSW |
4 |
114,898,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9140:Stil
|
UTSW |
4 |
114,864,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Stil
|
UTSW |
4 |
114,878,716 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9695:Stil
|
UTSW |
4 |
114,881,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Stil
|
UTSW |
4 |
114,878,701 (GRCm39) |
missense |
probably benign |
0.45 |
|
Z1088:Stil
|
UTSW |
4 |
114,863,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Stil
|
UTSW |
4 |
114,898,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACTTACCCAGGAGATCTTTC -3'
(R):5'- GTGTCTATGCTCCTGATGCG -3'
Sequencing Primer
(F):5'- ACCCAGGAGATCTTTCATTATAACG -3'
(R):5'- AGCCAGGAAGTGAGTGTCTCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation