Mutagenetix > Incidental Mutation

Incidental Mutation 'R8065:Pskh1'

619947

Institutional Source

Beutler Lab

Gene Symbol

Pskh1

Ensembl Gene

ENSMUSG00000048310

Gene Name

protein serine kinase H1

Synonyms

MMRRC Submission

067501-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105900441-105931778 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 105929855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 388 (S388A)

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

possibly damaging
Transcript: ENSMUST00000049699
AA Change: S388A

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: S388A

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

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cap2	T	C	13: 46,637,861	V280A	probably damaging	Het
Cbx7	A	T	15: 79,933,898	V1D	unknown	Het
Chodl	A	T	16: 78,946,713	L229F	probably damaging	Het
Depdc5	C	A	5: 32,895,908	N197K	possibly damaging	Het
Diaph3	A	T	14: 87,037,495	L175Q	probably damaging	Het
Dlat	A	T	9: 50,657,849	M218K	possibly damaging	Het
Dnaic1	T	A	4: 41,614,258	D311E	probably damaging	Het
Dpp10	A	G	1: 123,352,660	S646P	probably benign	Het
Ebf1	G	A	11: 44,620,547	V90M	probably benign	Het
Efhd1	C	T	1: 87,264,591	P48S	probably benign	Het
Fbxl16	G	A	17: 25,817,983	V313I	probably damaging	Het
Flrt2	A	G	12: 95,780,774	T629A	probably benign	Het
Gpr87	T	A	3: 59,179,887	I66F	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Hsd17b4	A	T	18: 50,170,752	I431F	possibly damaging	Het
Iba57	T	C	11: 59,163,260		probably benign	Het
Ibtk	A	C	9: 85,720,863	S696R	probably benign	Het
Igkv11-125	C	A	6: 67,913,830	T44N	probably benign	Het
Itih2	T	A	2: 10,123,483	I136F	probably damaging	Het
Itpr3	T	A	17: 27,110,862	D1543E	probably benign	Het
Ldlr	T	A	9: 21,737,945	C339S	probably damaging	Het
Myh2	G	A	11: 67,181,344	E633K	probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk	A	T	16: 34,972,019	E1570V	probably benign	Het
Myo15b	G	A	11: 115,887,943		probably null	Het
N4bp2	T	A	5: 65,807,296	L896H	probably damaging	Het
Naip2	A	T	13: 100,189,222	S59R	probably damaging	Het
Ndc1	T	A	4: 107,390,398	S468T	probably benign	Het
Ndst3	T	C	3: 123,601,445	N512S	probably damaging	Het
Olfr1138	T	A	2: 87,737,803	I174F	probably damaging	Het
Olfr65	A	G	7: 103,906,403		probably benign	Het
Plekhn1	T	C	4: 156,228,240	I54V	possibly damaging	Het
Polr3c	T	C	3: 96,715,652	E350G	probably null	Het
Pum1	T	C	4: 130,751,525	V486A	possibly damaging	Het
Rin2	T	G	2: 145,861,057	S558A	probably damaging	Het
Ripk4	A	T	16: 97,763,537	V58D	probably damaging	Het
Slc17a3	A	G	13: 23,858,087	R491G	unknown	Het
Smyd3	A	G	1: 179,410,463	M113T	possibly damaging	Het
Ssh2	A	G	11: 77,441,985	R431G	probably damaging	Het
Timm22	G	A	11: 76,414,105	D190N	probably damaging	Het
Ube2g1	G	A	11: 72,677,765	G103D	probably benign	Het
Zbtb5	A	T	4: 44,994,972	S137R	probably benign	Het
Zfp105	A	G	9: 122,925,129	T8A	probably benign	Het
Zfp286	A	T	11: 62,753,519	I192K	unknown	Het
Zfp942	T	C	17: 21,930,410	Y38C	probably damaging	Het
Zfpm1	T	C	8: 122,335,584	S461P	probably benign	Het

Other mutations in Pskh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:Pskh1	APN	8	105913204	missense	probably damaging	1.00
IGL02493:Pskh1	APN	8	105929756	missense	probably benign	0.01
R0800:Pskh1	UTSW	8	105913606	missense	probably damaging	1.00
R1602:Pskh1	UTSW	8	105912821	missense	probably benign	0.06
R1656:Pskh1	UTSW	8	105929757	missense	possibly damaging	0.89
R2314:Pskh1	UTSW	8	105913513	missense	probably damaging	0.99
R4296:Pskh1	UTSW	8	105912904	missense	probably benign	0.00
R5463:Pskh1	UTSW	8	105912832	missense	probably benign	0.13
R5477:Pskh1	UTSW	8	105929879	missense	probably damaging	0.99
R5875:Pskh1	UTSW	8	105913099	missense	possibly damaging	0.66
R6249:Pskh1	UTSW	8	105912985	missense	possibly damaging	0.56
R7249:Pskh1	UTSW	8	105913254	missense	possibly damaging	0.61
R7855:Pskh1	UTSW	8	105913090	missense	probably benign	0.15
R8156:Pskh1	UTSW	8	105913594	missense	probably benign	0.26
R8691:Pskh1	UTSW	8	105913201	missense	probably damaging	1.00
R8817:Pskh1	UTSW	8	105929720	missense	probably damaging	1.00
R9157:Pskh1	UTSW	8	105913510	missense	possibly damaging	0.90
R9396:Pskh1	UTSW	8	105913459	missense	possibly damaging	0.66
R9493:Pskh1	UTSW	8	105912966	nonsense	probably null
R9745:Pskh1	UTSW	8	105929772	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- AAGGACTTCATTGACCGCC -3'
(R):5'- TACATACTGCTGGGCATGAGG -3'

Sequencing Primer
(F):5'- ATTGACCGCCTGCTGAC -3'
(R):5'- TATTAGGCCCAGGTGACATGGC -3'

Posted On

2020-01-23