Mutagenetix > Incidental Mutation

Incidental Mutation 'R8156:Pskh1'

633318

Institutional Source

Beutler Lab

Gene Symbol

Pskh1

Ensembl Gene

ENSMUSG00000048310

Gene Name

protein serine kinase H1

Synonyms

E130013P03Rik, b2b1230Clo

MMRRC Submission

067582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106627106-106658434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106640226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 302 (R302H)

Ref Sequence

ENSEMBL: ENSMUSP00000061700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049699]

AlphaFold

Q91YA2

Predicted Effect

probably benign
Transcript: ENSMUST00000049699
AA Change: R302H

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: R302H

Domain	Start	End	E-Value	Type
S_TKc	98	355	1.22e-100	SMART
low complexity region	378	417	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.8%

Validation Efficiency

95% (40/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alyref	T	C	11: 120,489,074 (GRCm39)	R31G	probably benign	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
Arhgap31	G	T	16: 38,445,991 (GRCm39)	A118E	probably damaging	Het
Asb5	T	A	8: 55,003,541 (GRCm39)	I21K	probably damaging	Het
Asxl2	A	G	12: 3,546,760 (GRCm39)	I515V	probably benign	Het
Bend7	C	T	2: 4,757,665 (GRCm39)	P236S	probably benign	Het
C4bp	T	C	1: 130,566,824 (GRCm39)	T351A	probably benign	Het
Cd1d2	T	A	3: 86,894,569 (GRCm39)		probably null	Het
Chd1	T	A	17: 15,981,666 (GRCm39)	D1368E	probably benign	Het
Chrnb3	A	G	8: 27,883,682 (GRCm39)	I140V	probably benign	Het
Cip2a	A	G	16: 48,817,825 (GRCm39)	D65G	probably damaging	Het
Col6a2	T	C	10: 76,432,625 (GRCm39)	T843A	possibly damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Dop1a	A	G	9: 86,376,510 (GRCm39)	D248G	probably damaging	Het
Dtna	T	A	18: 23,723,388 (GRCm39)	C197*	probably null	Het
Flg2	T	C	3: 93,127,390 (GRCm39)	S2101P	unknown	Het
Foxg1	A	G	12: 49,431,429 (GRCm39)	H54R	unknown	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr35	A	G	1: 92,910,437 (GRCm39)	T50A	probably damaging	Het
Gsta3	A	T	1: 21,330,322 (GRCm39)	Y108F	probably benign	Het
Hdac4	G	T	1: 91,886,138 (GRCm39)	A811E	probably damaging	Het
Hephl1	A	T	9: 14,972,210 (GRCm39)	V910E	possibly damaging	Het
Kcnb2	A	T	1: 15,780,280 (GRCm39)	Y384F	probably damaging	Het
Kmt2a	T	C	9: 44,733,686 (GRCm39)	I2210M	unknown	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lrriq1	A	G	10: 102,992,196 (GRCm39)		probably null	Het
Lsm4	G	A	8: 71,131,018 (GRCm39)	G112S	probably damaging	Het
Myt1	T	C	2: 181,464,554 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,746 (GRCm39)	R396G	probably benign	Het
Or10ag56	A	C	2: 87,139,318 (GRCm39)	I82L	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Prdm2	A	G	4: 142,861,338 (GRCm39)	S651P	probably benign	Het
Prkaa2	T	C	4: 104,909,172 (GRCm39)	M91V	probably benign	Het
Rab11fip4	A	G	11: 79,577,415 (GRCm39)	T390A	probably benign	Het
Snx10	T	C	6: 51,538,999 (GRCm39)		probably benign	Het
Taar5	T	C	10: 23,847,393 (GRCm39)	C264R	probably damaging	Het
Tcf20	A	G	15: 82,737,138 (GRCm39)	C1438R	probably benign	Het
Tfap2d	A	G	1: 19,173,486 (GRCm39)	T3A	probably benign	Het
Toporsl	A	G	4: 52,609,975 (GRCm39)		probably benign	Het
Trim71	A	G	9: 114,342,192 (GRCm39)	S697P	probably benign	Het
Ufl1	T	C	4: 25,269,057 (GRCm39)	D258G	probably damaging	Het
Vmn1r28	T	C	6: 58,242,183 (GRCm39)	Y9H	probably damaging	Het
Zfp995	T	A	17: 22,099,115 (GRCm39)	H373L	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
R5477:Pskh1	UTSW	8	106,656,511 (GRCm39)	missense	probably damaging	0.99
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
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'- TCACTGACTTTGGCTTGGC -3'
(R):5'- GAAAACCTTTGCTAGTCTGTCACC -3'

Sequencing Primer
(F):5'- CCAGTGCCCGGAAGAAAG -3'
(R):5'- ACCTCTATGCTATCTGCTCGG -3'

Posted On

2020-06-30