Mutagenetix > Incidental Mutation

Incidental Mutation 'R5463:Pskh1'

433104

Institutional Source

Beutler Lab

Gene Symbol

Pskh1

Ensembl Gene

ENSMUSG00000048310

Gene Name

protein serine kinase H1

Synonyms

E130013P03Rik, b2b1230Clo

MMRRC Submission

043025-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5463 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106627106-106658434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106639464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 48 (L48P)

Ref Sequence

ENSEMBL: ENSMUSP00000061700 (fasta)

Gene Model

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

AlphaFold

Q91YA2

Predicted Effect

probably benign
Transcript: ENSMUST00000049699
AA Change: L48P

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: L48P

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	C	10: 115,406,104 (GRCm39)		probably benign	Het
Arhgap29	T	A	3: 121,782,200 (GRCm39)	S71T	possibly damaging	Het
BC048507	T	C	13: 68,011,817 (GRCm39)	Y65H	probably damaging	Het
C3	T	C	17: 57,518,720 (GRCm39)	E1221G	probably benign	Het
Calb1	G	T	4: 15,885,656 (GRCm39)	V76L	probably benign	Het
Crybg1	T	A	10: 43,879,689 (GRCm39)	K500*	probably null	Het
Csmd1	G	A	8: 16,034,860 (GRCm39)	T2437I	probably benign	Het
Cyp27b1	G	A	10: 126,887,966 (GRCm39)	V493I	possibly damaging	Het
Cyp3a44	T	A	5: 145,740,554 (GRCm39)	T29S	probably benign	Het
Dclk3	T	C	9: 111,298,328 (GRCm39)	V624A	probably benign	Het
Dnah6	T	C	6: 73,069,140 (GRCm39)	I2464V	probably benign	Het
Dock6	A	T	9: 21,721,254 (GRCm39)		probably null	Het
Erap1	C	T	13: 74,794,533 (GRCm39)	T64I	probably damaging	Het
Erbb3	A	T	10: 128,405,948 (GRCm39)	Y1156*	probably null	Het
Fam168a	G	A	7: 100,484,602 (GRCm39)	A231T	probably benign	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fbxo30	T	C	10: 11,166,813 (GRCm39)	Y512H	probably damaging	Het
Gcnt2	A	T	13: 41,071,650 (GRCm39)	I98F	possibly damaging	Het
Got1	G	A	19: 43,493,036 (GRCm39)	T295I	probably benign	Het
Herc2	A	G	7: 55,844,010 (GRCm39)	E3538G	probably damaging	Het
Kcnmb4	A	T	10: 116,309,410 (GRCm39)	V6E	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Letmd1	C	T	15: 100,367,009 (GRCm39)	A2V	probably damaging	Het
Lynx1	G	T	15: 74,623,462 (GRCm39)	Y28*	probably null	Het
Mast1	T	C	8: 85,652,136 (GRCm39)	E304G	probably damaging	Het
Nipa1	G	A	7: 55,629,205 (GRCm39)	Q303*	probably null	Het
Nomo1	G	A	7: 45,712,426 (GRCm39)	R657H	possibly damaging	Het
Or51b4	C	T	7: 103,530,541 (GRCm39)	R303H	probably benign	Het
Pcdha7	T	A	18: 37,108,628 (GRCm39)	L551Q	probably damaging	Het
Pik3r4	T	C	9: 105,525,930 (GRCm39)	Y267H	probably damaging	Het
Pnliprp1	A	G	19: 58,723,168 (GRCm39)	D223G	probably damaging	Het
Prph	G	A	15: 98,953,281 (GRCm39)	G65D	probably benign	Het
Ptdss1	C	A	13: 67,093,365 (GRCm39)	N68K	probably damaging	Het
Rexo5	G	A	7: 119,433,526 (GRCm39)	G495R	probably damaging	Het
Ryr1	C	A	7: 28,723,448 (GRCm39)	A4204S	possibly damaging	Het
Serpinb9	G	A	13: 33,199,659 (GRCm39)	S318N	probably damaging	Het
Slc22a8	G	A	19: 8,586,638 (GRCm39)	R383H	probably benign	Het
Trim26	A	G	17: 37,162,016 (GRCm39)	H145R	probably damaging	Het
Trps1	A	T	15: 50,695,286 (GRCm39)	Y286*	probably null	Het
Vmn1r181	A	G	7: 23,683,787 (GRCm39)	N84S	probably benign	Het
Wdfy4	G	T	14: 32,873,689 (GRCm39)	Q207K	probably benign	Het
Whrn	G	A	4: 63,351,053 (GRCm39)	T427I	probably benign	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
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'- GGGTGTCCCTGACTATTCTG -3'
(R):5'- CTAAAGCTGCCTCGCCCAATTAG -3'

Sequencing Primer
(F):5'- TGCCTACAGAGCAGGTCCTG -3'
(R):5'- AGGGCCTTTATATCATACTTAGCTG -3'

Posted On

2016-10-06