Mutagenetix > Incidental Mutation

Incidental Mutation 'R5875:Pskh1'

455474

Institutional Source

Beutler Lab

Gene Symbol

Pskh1

Ensembl Gene

ENSMUSG00000048310

Gene Name

protein serine kinase H1

Synonyms

E130013P03Rik, b2b1230Clo

MMRRC Submission

044082-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106627106-106658434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106639731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 137 (R137Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061700 (fasta)

Gene Model

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

AlphaFold

Q91YA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049699
AA Change: R137Q

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: R137Q

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: 99.4%
10x: 97.4%
20x: 91.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,028,737 (GRCm39)	V154A	possibly damaging	Het
Abcc1	A	G	16: 14,284,901 (GRCm39)	E1250G	possibly damaging	Het
Ajap1	A	C	4: 153,516,798 (GRCm39)	I181R	probably damaging	Het
Akap9	A	G	5: 4,127,285 (GRCm39)	Y3711C	probably benign	Het
Ark2c	T	C	18: 77,650,877 (GRCm39)		probably benign	Het
Arl1	T	C	10: 88,577,841 (GRCm39)	S137P	probably benign	Het
Atp6v0a2	G	A	5: 124,793,391 (GRCm39)	V583I	probably benign	Het
Cdca7	T	A	2: 72,313,901 (GRCm39)	M230K	probably benign	Het
Chd9	A	T	8: 91,778,464 (GRCm39)	D2841V	probably damaging	Het
Chp1	T	A	2: 119,402,296 (GRCm39)	F90Y	probably damaging	Het
Ckap5	A	G	2: 91,391,206 (GRCm39)	T345A	probably benign	Het
Clca4b	A	C	3: 144,628,650 (GRCm39)	S352R	probably benign	Het
Cmya5	A	G	13: 93,231,692 (GRCm39)	V1132A	probably benign	Het
Crb2	T	A	2: 37,677,266 (GRCm39)		probably null	Het
Crhbp	A	G	13: 95,580,304 (GRCm39)	F99L	probably benign	Het
Dnmt3l	A	T	10: 77,889,772 (GRCm39)	M210L	probably benign	Het
Dyrk2	T	A	10: 118,696,602 (GRCm39)	R219W	probably damaging	Het
Exosc1	A	G	19: 41,916,542 (GRCm39)	I78T	probably damaging	Het
Exosc9	T	C	3: 36,615,342 (GRCm39)		probably null	Het
Frmd5	A	G	2: 121,388,959 (GRCm39)		probably benign	Het
Gata2	T	C	6: 88,179,473 (GRCm39)	L315P	probably damaging	Het
Gm17067	G	A	7: 42,357,470 (GRCm39)	T344I	probably benign	Het
Gm4884	A	T	7: 40,692,360 (GRCm39)	T110S	possibly damaging	Het
Hapln3	T	C	7: 78,771,721 (GRCm39)	E56G	probably benign	Het
Helq	A	C	5: 100,944,336 (GRCm39)	I258S	probably damaging	Het
Hoxd10	T	C	2: 74,522,426 (GRCm39)	Y35H	possibly damaging	Het
Inpp5b	T	C	4: 124,674,199 (GRCm39)	V302A	possibly damaging	Het
Inpp5d	T	A	1: 87,645,696 (GRCm39)	I1027N	possibly damaging	Het
Ints2	T	C	11: 86,129,138 (GRCm39)	S482G	probably benign	Het
Itih1	C	T	14: 30,651,487 (GRCm39)	V902I	probably benign	Het
Jkampl	T	C	6: 73,446,028 (GRCm39)	I174V	possibly damaging	Het
Kctd16	T	A	18: 40,390,447 (GRCm39)		probably benign	Het
Kif27	T	C	13: 58,458,918 (GRCm39)	N971S	probably benign	Het
Klra17	T	C	6: 129,851,791 (GRCm39)	D27G	probably benign	Het
Leo1	G	C	9: 75,357,842 (GRCm39)	R412S	probably damaging	Het
Lonrf2	T	C	1: 38,846,128 (GRCm39)	N348S	probably benign	Het
Lpp	G	A	16: 24,427,059 (GRCm39)	G62E	probably benign	Het
Lyn	G	A	4: 3,745,631 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,326,107 (GRCm39)	N5128I	possibly damaging	Het
Mapk7	T	A	11: 61,384,524 (GRCm39)	I61L	probably benign	Het
Mindy1	T	C	3: 95,202,125 (GRCm39)	V334A	probably damaging	Het
Muc20	G	A	16: 32,614,189 (GRCm39)	T396I	possibly damaging	Het
Myo5b	A	T	18: 74,840,973 (GRCm39)		probably null	Het
Noc4l	A	C	5: 110,799,176 (GRCm39)		probably null	Het
Oas1c	A	G	5: 120,943,627 (GRCm39)	Y171H	probably damaging	Het
Pclo	A	T	5: 14,730,614 (GRCm39)		probably benign	Het
Pmpcb	G	A	5: 21,947,944 (GRCm39)	E216K	probably benign	Het
Ptprb	T	G	10: 116,184,071 (GRCm39)	W1628G	probably benign	Het
Ranbp3	T	A	17: 57,014,955 (GRCm39)		probably null	Het
Sart1	T	C	19: 5,433,823 (GRCm39)	D338G	probably damaging	Het
Scn8a	T	A	15: 100,870,703 (GRCm39)	Y251*	probably null	Het
Sdk2	G	T	11: 113,720,885 (GRCm39)	T1348K	probably benign	Het
Sec16a	A	G	2: 26,323,379 (GRCm39)	Y1272H	probably damaging	Het
Slc26a1	A	T	5: 108,819,903 (GRCm39)	L432Q	probably damaging	Het
Susd1	A	T	4: 59,412,203 (GRCm39)	F117I	possibly damaging	Het
Taf5	A	T	19: 47,064,549 (GRCm39)	Y465F	probably damaging	Het
Tcstv1a	T	A	13: 120,355,630 (GRCm39)	M1L	probably benign	Het
Tectb	A	G	19: 55,178,058 (GRCm39)	D193G	possibly damaging	Het
Tex56	T	G	13: 35,116,429 (GRCm39)	C59W	probably damaging	Het
Tirap	G	A	9: 35,100,465 (GRCm39)	P73L	probably damaging	Het
Tm6sf2	A	G	8: 70,528,039 (GRCm39)	D86G	possibly damaging	Het
Tmem161b	A	T	13: 84,442,977 (GRCm39)	H481L	probably damaging	Het
Tnrc6c	G	A	11: 117,650,534 (GRCm39)	V1763I	probably damaging	Het
Ubxn1	T	C	19: 8,849,584 (GRCm39)	S75P	probably benign	Het
Uhrf2	A	G	19: 30,066,702 (GRCm39)	K709E	probably damaging	Het
Vmn2r101	T	A	17: 19,809,092 (GRCm39)	Y74N	probably damaging	Het
Xirp2	A	G	2: 67,335,424 (GRCm39)	E81G	probably benign	Het
Zbtb45	A	G	7: 12,742,237 (GRCm39)	V7A	possibly damaging	Het
Zfp668	C	A	7: 127,465,474 (GRCm39)	R570L	possibly damaging	Het
Zmiz1	T	A	14: 25,636,390 (GRCm39)	M125K	possibly damaging	Het
Zmiz2	T	C	11: 6,355,072 (GRCm39)	L913P	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
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'- TGTTCCCAATACTGGCCACAC -3'
(R):5'- TCTTGTGGCATCTCGTTCAG -3'

Sequencing Primer
(F):5'- TACTGGCCACACAGCGC -3'
(R):5'- CTCGTTCAGTGAAAGAACCCTTGG -3'

Posted On

2017-02-10