Incidental Mutation 'R5477:Pskh1'
| ID |
434117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pskh1
|
| Ensembl Gene |
ENSMUSG00000048310 |
| Gene Name |
protein serine kinase H1 |
| Synonyms |
E130013P03Rik, b2b1230Clo |
| MMRRC Submission |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5477 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106627106-106658434 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106656511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 396
(R396C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034368]
[ENSMUST00000049699]
|
| AlphaFold |
Q91YA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034368
|
| SMART Domains |
Protein: ENSMUSP00000034368
Gene: ENSMUSG00000031896
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
33 |
257 |
1.41e-92 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049699
AA Change: R396C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: R396C
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
98 |
355 |
1.22e-100 |
SMART |
|
low complexity region
|
378 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212561
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit situs inversus totalis with variable congenital heart defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
probably damaging |
Het |
|
| Other mutations in Pskh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01747:Pskh1
|
APN |
8 |
106,639,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Pskh1
|
APN |
8 |
106,656,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0800:Pskh1
|
UTSW |
8 |
106,640,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Pskh1
|
UTSW |
8 |
106,639,453 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1656:Pskh1
|
UTSW |
8 |
106,656,389 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2314:Pskh1
|
UTSW |
8 |
106,640,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4296:Pskh1
|
UTSW |
8 |
106,639,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5463:Pskh1
|
UTSW |
8 |
106,639,464 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5875:Pskh1
|
UTSW |
8 |
106,639,731 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6249:Pskh1
|
UTSW |
8 |
106,639,617 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7249:Pskh1
|
UTSW |
8 |
106,639,886 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7855:Pskh1
|
UTSW |
8 |
106,639,722 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8065:Pskh1
|
UTSW |
8 |
106,656,487 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8156:Pskh1
|
UTSW |
8 |
106,640,226 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8691:Pskh1
|
UTSW |
8 |
106,639,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Pskh1
|
UTSW |
8 |
106,656,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Pskh1
|
UTSW |
8 |
106,640,142 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9396:Pskh1
|
UTSW |
8 |
106,640,091 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9493:Pskh1
|
UTSW |
8 |
106,639,598 (GRCm39) |
nonsense |
probably null |
|
|
R9745:Pskh1
|
UTSW |
8 |
106,656,404 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGACTTCATTGACCGCC -3'
(R):5'- CTACATACTGCTGGGCATGAG -3'
Sequencing Primer
(F):5'- ATTGACCGCCTGCTGAC -3'
(R):5'- CATACTGCTGGGCATGAGGTCTAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation