Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Pskh1'

672812

Institutional Source

Beutler Lab

Gene Symbol

Pskh1

Ensembl Gene

ENSMUSG00000048310

Gene Name

protein serine kinase H1

Synonyms

E130013P03Rik, b2b1230Clo

MMRRC Submission

068727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106627106-106658434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106656352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 343 (R343W)

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

probably damaging
Transcript: ENSMUST00000049699
AA Change: R343W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310
AA Change: R343W

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: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,400,361 (GRCm39)	V139A	probably benign	Het
Aass	A	T	6: 23,097,195 (GRCm39)	Y41*	probably null	Het
AI429214	G	A	8: 37,461,268 (GRCm39)	V139I	probably benign	Het
Cacna1a	G	A	8: 85,365,426 (GRCm39)	A2190T	probably benign	Het
Cstpp1	A	G	2: 91,107,343 (GRCm39)	Y320H	probably benign	Het
Cutc	T	C	19: 43,744,113 (GRCm39)	V38A	probably benign	Het
Cxcl10	G	T	5: 92,495,230 (GRCm39)	P98H	probably damaging	Het
Dop1a	T	C	9: 86,396,003 (GRCm39)	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,454,631 (GRCm39)	L117P	probably damaging	Het
Emc3	A	G	6: 113,492,868 (GRCm39)	F261S	probably damaging	Het
Ephx2	T	C	14: 66,344,725 (GRCm39)	T200A	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
Ethe1	T	C	7: 24,305,727 (GRCm39)	I158T	probably damaging	Het
Fancm	C	T	12: 65,167,331 (GRCm39)	R1547C	probably damaging	Het
Fer1l4	T	A	2: 155,890,143 (GRCm39)	T261S	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gabrp	A	T	11: 33,504,464 (GRCm39)	S284T	possibly damaging	Het
Gga2	G	A	7: 121,590,845 (GRCm39)	R488*	probably null	Het
Gm9758	A	G	5: 14,962,230 (GRCm39)	L126S	probably damaging	Het
Gse1	T	C	8: 121,294,542 (GRCm39)	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,954,068 (GRCm39)	S2P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Lama2	A	T	10: 27,063,869 (GRCm39)	W1307R	probably damaging	Het
Map3k6	A	G	4: 132,974,071 (GRCm39)	K517E	probably benign	Het
Mbl1	T	A	14: 40,875,555 (GRCm39)	L3Q	unknown	Het
Mepe	G	T	5: 104,485,151 (GRCm39)	R97L	probably benign	Het
Minpp1	T	A	19: 32,463,747 (GRCm39)	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,097,070 (GRCm39)	I281F	probably benign	Het
Naip5	T	C	13: 100,349,207 (GRCm39)	I1374V	probably benign	Het
Or14j8	A	G	17: 38,263,273 (GRCm39)	I214T	probably damaging	Het
Or4c12	A	G	2: 89,773,790 (GRCm39)	L223S	probably damaging	Het
Or52e19b	A	T	7: 103,032,825 (GRCm39)	I128N	probably damaging	Het
Or8g34	C	T	9: 39,373,387 (GRCm39)	S217F	probably damaging	Het
Or8g37	G	T	9: 39,730,939 (GRCm39)	M1I	probably null	Het
Pamr1	T	G	2: 102,464,766 (GRCm39)	V305G	probably benign	Het
Pcbp3	T	C	10: 76,625,670 (GRCm39)	T125A	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 71,941,894 (GRCm39)	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,702,774 (GRCm39)	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,175,429 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,042,971 (GRCm39)	K480E	probably damaging	Het
Psd3	A	G	8: 68,413,135 (GRCm39)	I465T	possibly damaging	Het
Ptprz1	A	T	6: 23,007,371 (GRCm39)	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,808,416 (GRCm39)	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,023 (GRCm39)		probably benign	Het
Recql	G	A	6: 142,304,612 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,196,332 (GRCm39)	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,268,085 (GRCm39)	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,378,056 (GRCm39)	V468A	probably benign	Het
Ryr2	T	A	13: 11,750,509 (GRCm39)	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,435,558 (GRCm39)	G9D	unknown	Het
Slc28a2b	A	T	2: 122,348,988 (GRCm39)	T305S	possibly damaging	Het
Slc40a1	A	C	1: 45,948,699 (GRCm39)	V527G	probably damaging	Het
Smarca4	T	A	9: 21,547,497 (GRCm39)	M260K	probably benign	Het
Smarca5	A	T	8: 81,460,379 (GRCm39)	M119K	probably benign	Het
Smg1	A	G	7: 117,758,887 (GRCm39)	V2206A	unknown	Het
Sp4	A	T	12: 118,225,624 (GRCm39)	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,182,376 (GRCm39)	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srcap	T	C	7: 127,152,395 (GRCm39)	S2220P	probably benign	Het
Stra6	G	T	9: 58,059,265 (GRCm39)	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,523,335 (GRCm39)	F1626I	probably benign	Het
Tjp1	T	C	7: 64,952,810 (GRCm39)	N1508S	probably benign	Het
Trrap	T	A	5: 144,782,348 (GRCm39)	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,232,470 (GRCm39)	L135P	probably damaging	Het
Ttl	A	T	2: 128,910,778 (GRCm39)	H54L	probably damaging	Het
Ttn	T	A	2: 76,660,251 (GRCm39)	T12110S	unknown	Het
Uba6	T	C	5: 86,296,772 (GRCm39)	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425 (GRCm39)	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 187,995,231 (GRCm39)	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,542,559 (GRCm39)	V158F	probably benign	Het
Wif1	A	G	10: 120,932,621 (GRCm39)	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,881,760 (GRCm39)	N482K	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
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
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'- TGTCTAGACAGTGCACAGGTG -3'
(R):5'- ATAGCGCAGGTTAAGCTCCC -3'

Sequencing Primer
(F):5'- CACAGGTGCTGGGTGGATC -3'
(R):5'- AGGTTAAGCTCCCGCAGTTC -3'

Posted On

2021-04-30