Mutagenetix > Incidental Mutation

Incidental Mutation 'R1602:Pskh1'

176208

Institutional Source

Beutler Lab

Gene Symbol

Pskh1

Ensembl Gene

ENSMUSG00000048310

Gene Name

protein serine kinase H1

Synonyms

E130013P03Rik, b2b1230Clo

MMRRC Submission

039639-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106627106-106658434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106639453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 44 (S44R)

Ref Sequence

ENSEMBL: ENSMUSP00000061700 (fasta)

Gene Model

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

AlphaFold

Q91YA2

Predicted Effect

probably benign
Transcript: ENSMUST00000049699
AA Change: S44R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: S44R

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

0.0596

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

91% (49/54)

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
Ankrd12	A	T	17: 66,290,683 (GRCm39)	Y1583*	probably null	Het
Ankrd34c	T	C	9: 89,611,058 (GRCm39)	T428A	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Atr	T	C	9: 95,833,610 (GRCm39)	L2620P	probably damaging	Het
Ccdc110	A	G	8: 46,391,955 (GRCm39)	Y54C	probably benign	Het
Cecr2	T	C	6: 120,732,548 (GRCm39)	V480A	possibly damaging	Het
Chfr	A	G	5: 110,299,531 (GRCm39)	D308G	probably benign	Het
Cit	T	A	5: 116,135,789 (GRCm39)	I1919N	probably damaging	Het
Ctsc	T	A	7: 87,927,512 (GRCm39)	D34E	possibly damaging	Het
Diaph3	T	A	14: 87,328,594 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,044,452 (GRCm39)	I3220F	probably damaging	Het
Eif1ad16	C	A	12: 87,985,134 (GRCm39)	E136D	probably benign	Het
Eif4a3l1	G	A	6: 136,305,778 (GRCm39)	A80T	probably damaging	Het
Elmod3	A	G	6: 72,546,242 (GRCm39)		probably null	Het
Fgd5	T	C	6: 92,043,165 (GRCm39)	V1215A	possibly damaging	Het
Filip1	T	C	9: 79,727,873 (GRCm39)	M249V	probably damaging	Het
Fmn1	C	T	2: 113,355,968 (GRCm39)	P803L	unknown	Het
Gcfc2	A	G	6: 81,921,401 (GRCm39)	K469R	probably damaging	Het
Itgad	A	G	7: 127,790,111 (GRCm39)	T637A	probably damaging	Het
Kank2	T	C	9: 21,681,133 (GRCm39)	S799G	probably damaging	Het
Kcnc4	A	T	3: 107,355,520 (GRCm39)	D309E	possibly damaging	Het
Lamc2	G	A	1: 153,002,774 (GRCm39)	T1069M	probably benign	Het
Lepr	T	A	4: 101,602,842 (GRCm39)	M210K	possibly damaging	Het
Lig3	T	C	11: 82,683,020 (GRCm39)		probably null	Het
Oat	G	T	7: 132,171,736 (GRCm39)	T33K	probably benign	Het
Or2ad1	T	C	13: 21,326,820 (GRCm39)	M136V	probably damaging	Het
Or4b1d	A	G	2: 89,969,399 (GRCm39)	F28S	probably damaging	Het
Or7c70	T	A	10: 78,682,802 (GRCm39)	M316L	probably benign	Het
Pcnx3	G	T	19: 5,722,543 (GRCm39)	A1383E	probably damaging	Het
Pctp	T	C	11: 89,879,561 (GRCm39)	Y100C	probably damaging	Het
Pex6	G	T	17: 47,023,063 (GRCm39)	R213L	probably benign	Het
Phlpp2	T	C	8: 110,660,655 (GRCm39)	L770S	possibly damaging	Het
Pkn2	A	T	3: 142,559,299 (GRCm39)	D75E	possibly damaging	Het
Pla2g12b	T	C	10: 59,257,375 (GRCm39)		probably null	Het
Plch2	C	T	4: 155,068,907 (GRCm39)	V1135I	probably damaging	Het
Ptpra	G	T	2: 30,327,602 (GRCm39)	A119S	probably benign	Het
Shld2	A	G	14: 33,989,607 (GRCm39)	I433T	probably damaging	Het
Slfn3	A	G	11: 83,103,541 (GRCm39)	I137M	probably damaging	Het
St6galnac1	A	T	11: 116,660,113 (GRCm39)	S67T	probably benign	Het
Timd5	T	C	11: 46,426,415 (GRCm39)	I174T	probably benign	Het
Treml1	A	G	17: 48,671,917 (GRCm39)	E137G	probably damaging	Het
Ubr2	A	C	17: 47,251,987 (GRCm39)	C1518G	probably benign	Het
Vmn2r55	A	T	7: 12,386,571 (GRCm39)	C470S	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
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
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'- TGAGAGGTGAAAGGCGTCCCTTTG -3'
(R):5'- AAAGCTGCCTCGCCCAATTAGG -3'

Sequencing Primer
(F):5'- tcacatcatacaccccattctc -3'
(R):5'- GGGCCTTTATATCATACTTAGCTGTC -3'

Posted On

2014-04-24