Incidental Mutation 'PIT4472001:Skil'
| ID |
555846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skil
|
| Ensembl Gene |
ENSMUSG00000027660 |
| Gene Name |
SKI-like |
| Synonyms |
9130011J04Rik, sno-dE3, SnoN, Skir, SnoN2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4472001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
31149259-31176741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31152381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 301
(V301D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029194]
[ENSMUST00000117728]
[ENSMUST00000118204]
[ENSMUST00000118470]
[ENSMUST00000123532]
|
| AlphaFold |
Q60665 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029194
AA Change: V301D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: V301D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
121 |
233 |
2e-46 |
PFAM |
|
c-SKI_SMAD_bind
|
258 |
353 |
6.01e-64 |
SMART |
|
low complexity region
|
419 |
437 |
N/A |
INTRINSIC |
|
coiled coil region
|
526 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117728
AA Change: V221D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: V221D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
41 |
153 |
1.5e-45 |
PFAM |
|
c-SKI_SMAD_bind
|
178 |
273 |
6.01e-64 |
SMART |
|
low complexity region
|
347 |
357 |
N/A |
INTRINSIC |
|
coiled coil region
|
400 |
544 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118204
AA Change: V301D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: V301D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
125 |
232 |
2.7e-46 |
PFAM |
|
c-SKI_SMAD_bind
|
258 |
353 |
6.01e-64 |
SMART |
|
low complexity region
|
419 |
437 |
N/A |
INTRINSIC |
|
coiled coil region
|
526 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118470
AA Change: V301D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: V301D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
121 |
233 |
2e-46 |
PFAM |
|
c-SKI_SMAD_bind
|
258 |
353 |
6.01e-64 |
SMART |
|
low complexity region
|
427 |
437 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
508 |
625 |
5e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123532
|
| SMART Domains |
Protein: ENSMUSP00000123522
Gene: ENSMUSG00000027660
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
121 |
187 |
6.9e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.7%
- 3x: 90.8%
- 10x: 84.2%
- 20x: 70.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a small family of proteins that play a key role in the response of cells to extracellular growth signals. The encoded protein regulates members of the transforming growth factor beta signaling pathway. It is highly expressed in certain cancer cells, where it may have both tumor-suppressing and tumor-promoting roles. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Heterozygotes for a null allele develop lymphomas and show increased incidence of chemically-induced tumors while homozygotes die before implantation. Homozygotes for a different null allele are viable but show defective T cell activation and impaired mammary gland alveologenesis and lactogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,422,726 (GRCm39) |
I532V |
probably damaging |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cd300e |
T |
A |
11: 114,945,336 (GRCm39) |
I153F |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,464 (GRCm39) |
F424Y |
possibly damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,625 (GRCm39) |
G80R |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,513,619 (GRCm39) |
V186A |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,921,798 (GRCm39) |
M490K |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,155,774 (GRCm39) |
V1160D |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fgf5 |
T |
A |
5: 98,409,838 (GRCm39) |
V129E |
probably damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,071,413 (GRCm39) |
V19M |
probably benign |
Het |
| Gga1 |
C |
A |
15: 78,777,836 (GRCm39) |
A595D |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Gskip |
C |
T |
12: 105,651,121 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,620 (GRCm39) |
V112A |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,138,732 (GRCm39) |
T185S |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,071,699 (GRCm39) |
V862A |
|
Het |
| Lats2 |
A |
C |
14: 57,936,814 (GRCm39) |
Y558* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,105 (GRCm39) |
E326G |
unknown |
Het |
| Mtmr10 |
A |
G |
7: 63,983,106 (GRCm39) |
E471G |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,855,310 (GRCm39) |
V12M |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,945,273 (GRCm39) |
V2177M |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,894,306 (GRCm39) |
E693G |
unknown |
Het |
| Pclo |
T |
C |
5: 14,763,182 (GRCm39) |
M600T |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,340,907 (GRCm39) |
M622K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,663,209 (GRCm39) |
L428P |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,854,477 (GRCm39) |
V150M |
|
Het |
| Pou4f3 |
A |
G |
18: 42,527,717 (GRCm39) |
M4V |
probably benign |
Het |
| Ppp1r13b |
G |
A |
12: 111,799,074 (GRCm39) |
R864C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,389 (GRCm39) |
|
probably null |
Het |
| Sptb |
G |
A |
12: 76,667,460 (GRCm39) |
T879M |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,535,486 (GRCm39) |
A79V |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,897,155 (GRCm39) |
L73Q |
probably damaging |
Het |
| Trpv4 |
T |
A |
5: 114,764,984 (GRCm39) |
T677S |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
|
| Other mutations in Skil |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01940:Skil
|
APN |
3 |
31,165,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02149:Skil
|
APN |
3 |
31,151,856 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02388:Skil
|
APN |
3 |
31,165,787 (GRCm39) |
nonsense |
probably null |
|
|
IGL02478:Skil
|
APN |
3 |
31,151,968 (GRCm39) |
nonsense |
probably null |
|
|
IGL02723:Skil
|
APN |
3 |
31,171,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4243001:Skil
|
UTSW |
3 |
31,167,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4466001:Skil
|
UTSW |
3 |
31,152,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Skil
|
UTSW |
3 |
31,171,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3124:Skil
|
UTSW |
3 |
31,151,487 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3750:Skil
|
UTSW |
3 |
31,170,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4865:Skil
|
UTSW |
3 |
31,167,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5213:Skil
|
UTSW |
3 |
31,171,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5328:Skil
|
UTSW |
3 |
31,171,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5357:Skil
|
UTSW |
3 |
31,167,700 (GRCm39) |
missense |
probably benign |
|
|
R5428:Skil
|
UTSW |
3 |
31,151,647 (GRCm39) |
missense |
probably benign |
|
|
R6153:Skil
|
UTSW |
3 |
31,152,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6613:Skil
|
UTSW |
3 |
31,152,029 (GRCm39) |
missense |
probably null |
1.00 |
|
R7270:Skil
|
UTSW |
3 |
31,151,324 (GRCm39) |
intron |
probably benign |
|
|
R7999:Skil
|
UTSW |
3 |
31,151,751 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8350:Skil
|
UTSW |
3 |
31,151,603 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8758:Skil
|
UTSW |
3 |
31,172,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Skil
|
UTSW |
3 |
31,167,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8873:Skil
|
UTSW |
3 |
31,152,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Skil
|
UTSW |
3 |
31,167,729 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9526:Skil
|
UTSW |
3 |
31,171,639 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9712:Skil
|
UTSW |
3 |
31,171,009 (GRCm39) |
missense |
probably benign |
|
|
R9755:Skil
|
UTSW |
3 |
31,151,544 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Skil
|
UTSW |
3 |
31,151,675 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTGCGGCCACGAACTTTTC -3'
(R):5'- AGGAACTTGCCTTTGATTGGATTC -3'
Sequencing Primer
(F):5'- CTCAAAATGGTAGCATACTTCCTGC -3'
(R):5'- ACTTGCCTTTGATTGGATTCTCTTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation