Incidental Mutation 'R1452:Stil'
| ID |
161060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stil
|
| Ensembl Gene |
ENSMUSG00000028718 |
| Gene Name |
Scl/Tal1 interrupting locus |
| Synonyms |
Sil |
| MMRRC Submission |
039507-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1452 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
114857356-114900393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114896392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 959
(N959S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030490]
[ENSMUST00000129957]
[ENSMUST00000141933]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030490
AA Change: N959S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000030490
Gene: ENSMUSG00000028718
AA Change: N959S
| 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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.5%
|
| Validation Efficiency |
99% (70/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,655,015 (GRCm39) |
I1446M |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,185,885 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,091,996 (GRCm39) |
E85D |
probably benign |
Het |
| Akt3 |
A |
T |
1: 176,958,633 (GRCm39) |
Y26N |
possibly damaging |
Het |
| Arl15 |
T |
C |
13: 114,104,319 (GRCm39) |
V132A |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,168,360 (GRCm39) |
|
probably benign |
Het |
| Atrip |
T |
A |
9: 108,901,727 (GRCm39) |
D110V |
probably damaging |
Het |
| Bahcc1 |
T |
G |
11: 120,173,065 (GRCm39) |
|
probably benign |
Het |
| Cd53 |
C |
T |
3: 106,676,275 (GRCm39) |
G31S |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,927 (GRCm39) |
S404G |
possibly damaging |
Het |
| Cers3 |
A |
T |
7: 66,433,152 (GRCm39) |
K156N |
probably damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,379,904 (GRCm39) |
L448M |
probably damaging |
Het |
| Cox15 |
G |
T |
19: 43,735,344 (GRCm39) |
T141K |
probably damaging |
Het |
| Csnk2a2 |
C |
T |
8: 96,184,003 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
A |
T |
7: 25,624,813 (GRCm39) |
|
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 38,999,534 (GRCm39) |
Y80C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,232,328 (GRCm39) |
Y693C |
possibly damaging |
Het |
| Des |
T |
C |
1: 75,340,121 (GRCm39) |
S343P |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,080,207 (GRCm39) |
|
probably benign |
Het |
| Eif3m |
T |
A |
2: 104,837,122 (GRCm39) |
Q199L |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,249,881 (GRCm39) |
T802K |
probably damaging |
Het |
| Endov |
A |
G |
11: 119,382,651 (GRCm39) |
T33A |
probably damaging |
Het |
| Epb41l5 |
G |
A |
1: 119,476,896 (GRCm39) |
T728I |
probably damaging |
Het |
| Fbxo39 |
A |
G |
11: 72,209,228 (GRCm39) |
I363V |
probably benign |
Het |
| Gm8674 |
C |
T |
13: 50,054,553 (GRCm39) |
|
noncoding transcript |
Het |
| Il6st |
T |
A |
13: 112,617,998 (GRCm39) |
N137K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,567,778 (GRCm39) |
N136S |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,491,558 (GRCm39) |
I376N |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,393,874 (GRCm39) |
|
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,758,909 (GRCm39) |
H71Q |
probably damaging |
Het |
| Lgals8 |
G |
T |
13: 12,468,208 (GRCm39) |
Y140* |
probably null |
Het |
| Mab21l4 |
T |
C |
1: 93,080,661 (GRCm39) |
Y415C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,387,791 (GRCm39) |
I924L |
probably benign |
Het |
| Mcoln2 |
A |
T |
3: 145,887,569 (GRCm39) |
T329S |
possibly damaging |
Het |
| Mex3d |
A |
T |
10: 80,217,354 (GRCm39) |
L621Q |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,248,359 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,457 (GRCm39) |
H1038R |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,161,309 (GRCm39) |
|
probably null |
Het |
| Ngrn |
A |
G |
7: 79,914,520 (GRCm39) |
T224A |
probably benign |
Het |
| Nin |
G |
A |
12: 70,064,424 (GRCm39) |
R2019* |
probably null |
Het |
| Nphp4 |
C |
G |
4: 152,631,475 (GRCm39) |
Q792E |
probably damaging |
Het |
| Or13e8 |
C |
T |
4: 43,696,823 (GRCm39) |
V117M |
probably benign |
Het |
| Or2z9 |
C |
T |
8: 72,854,020 (GRCm39) |
Q139* |
probably null |
Het |
| Or4c3d |
C |
T |
2: 89,882,015 (GRCm39) |
V218I |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,655 (GRCm39) |
V225I |
probably benign |
Het |
| Or8k3 |
T |
A |
2: 86,058,799 (GRCm39) |
N172I |
probably damaging |
Het |
| Pde4dip |
C |
A |
3: 97,631,418 (GRCm39) |
V1164L |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,301,067 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,310 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
T |
A |
1: 33,669,485 (GRCm39) |
E163D |
probably benign |
Het |
| Prrc2b |
A |
T |
2: 32,084,997 (GRCm39) |
D296V |
probably damaging |
Het |
| Pter |
A |
G |
2: 12,983,432 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
A |
T |
6: 149,228,130 (GRCm39) |
K392I |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,758,798 (GRCm39) |
V662L |
probably damaging |
Het |
| Sirpd |
G |
T |
3: 15,397,212 (GRCm39) |
T24K |
unknown |
Het |
| Slco1b2 |
A |
T |
6: 141,617,926 (GRCm39) |
I424F |
probably benign |
Het |
| Snx29 |
A |
T |
16: 11,449,335 (GRCm39) |
H260L |
probably damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,508 (GRCm39) |
D101E |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc6 |
G |
A |
9: 8,653,148 (GRCm39) |
M573I |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,790,425 (GRCm39) |
D171V |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,455,626 (GRCm39) |
T348A |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,808 (GRCm39) |
I112N |
probably damaging |
Het |
| Vps36 |
A |
G |
8: 22,708,226 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
G |
A |
5: 102,085,604 (GRCm39) |
A630V |
possibly damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,707,144 (GRCm39) |
D14E |
probably null |
Het |
| Ylpm1 |
T |
C |
12: 85,077,157 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,790,936 (GRCm39) |
F378L |
probably benign |
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 |
|
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 |
|
R7357:Stil
|
UTSW |
4 |
114,871,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GATCAGGTGGCTCACAACCACTTAC -3'
(R):5'- CCAGGAGTGCTGCAACATACCTAAC -3'
Sequencing Primer
(F):5'- TTACATTCCACCTACGAAGGC -3'
(R):5'- GCTGCAACATACCTAACATTTATTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation