Incidental Mutation 'R1346:Skida1'
| ID |
156491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skida1
|
| Ensembl Gene |
ENSMUSG00000054074 |
| Gene Name |
SKI/DACH domain containing 1 |
| Synonyms |
5730507N06Rik, 2810030E01Rik |
| MMRRC Submission |
039411-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R1346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
18048510-18053627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18053090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 21
(I21V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066885]
[ENSMUST00000091420]
[ENSMUST00000142856]
[ENSMUST00000152908]
|
| AlphaFold |
Q80YR3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066885
AA Change: I21V
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068520
Gene: ENSMUSG00000054074
AA Change: I21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
5 |
98 |
4.1e-19 |
PFAM |
|
low complexity region
|
116 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
297 |
N/A |
INTRINSIC |
|
coiled coil region
|
315 |
337 |
N/A |
INTRINSIC |
|
Pfam:DUF4584
|
383 |
820 |
9.7e-162 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091420
AA Change: I21V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088982
Gene: ENSMUSG00000054074
AA Change: I21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
5 |
97 |
7.7e-17 |
PFAM |
|
low complexity region
|
116 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
167 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
224 |
254 |
3e-3 |
SMART |
|
SCOP:d1gkub1
|
296 |
321 |
6e-3 |
SMART |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
384 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
424 |
N/A |
INTRINSIC |
|
Pfam:DUF4584
|
471 |
907 |
7.7e-179 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142856
AA Change: I21V
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122112
Gene: ENSMUSG00000054074
AA Change: I21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
5 |
98 |
4.4e-20 |
PFAM |
|
low complexity region
|
116 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152908
AA Change: I21V
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114785
Gene: ENSMUSG00000054074
AA Change: I21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ski_Sno
|
5 |
65 |
2.8e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173604
|
| Meta Mutation Damage Score |
0.1610 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
| Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
| Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
| Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
| Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
| Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
| Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
| Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
| Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
| Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
| Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
| Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
Het |
|
| Other mutations in Skida1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02315:Skida1
|
APN |
2 |
18,050,816 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03220:Skida1
|
APN |
2 |
18,052,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0328:Skida1
|
UTSW |
2 |
18,051,997 (GRCm39) |
unclassified |
probably benign |
|
|
R0732:Skida1
|
UTSW |
2 |
18,050,968 (GRCm39) |
unclassified |
probably benign |
|
|
R1239:Skida1
|
UTSW |
2 |
18,052,128 (GRCm39) |
unclassified |
probably benign |
|
|
R1597:Skida1
|
UTSW |
2 |
18,051,143 (GRCm39) |
unclassified |
probably benign |
|
|
R1867:Skida1
|
UTSW |
2 |
18,051,155 (GRCm39) |
unclassified |
probably benign |
|
|
R3797:Skida1
|
UTSW |
2 |
18,050,708 (GRCm39) |
nonsense |
probably null |
|
|
R4521:Skida1
|
UTSW |
2 |
18,050,683 (GRCm39) |
unclassified |
probably benign |
|
|
R5270:Skida1
|
UTSW |
2 |
18,052,460 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5467:Skida1
|
UTSW |
2 |
18,050,923 (GRCm39) |
unclassified |
probably benign |
|
|
R5890:Skida1
|
UTSW |
2 |
18,050,814 (GRCm39) |
unclassified |
probably benign |
|
|
R7181:Skida1
|
UTSW |
2 |
18,051,602 (GRCm39) |
missense |
unknown |
|
|
R7398:Skida1
|
UTSW |
2 |
18,051,083 (GRCm39) |
missense |
unknown |
|
|
R8103:Skida1
|
UTSW |
2 |
18,052,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8199:Skida1
|
UTSW |
2 |
18,052,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Skida1
|
UTSW |
2 |
18,051,402 (GRCm39) |
missense |
unknown |
|
|
R9178:Skida1
|
UTSW |
2 |
18,050,489 (GRCm39) |
nonsense |
probably null |
|
|
R9295:Skida1
|
UTSW |
2 |
18,051,386 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGCTTGGTCTTGAGCACACG -3'
(R):5'- ATTCGCCTAGAGTTTGGCACTCCC -3'
Sequencing Primer
(F):5'- AGCACACGCTCGGTTTTG -3'
(R):5'- CGCCGGGAATAACAGTCTTTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation