Mutagenetix > Incidental Mutation

Incidental Mutation 'R0365:Psip1'

36327

Institutional Source

Beutler Lab

Gene Symbol

Psip1

Ensembl Gene

ENSMUSG00000028484

Gene Name

PC4 and SFRS1 interacting protein 1

Synonyms

Psip2

MMRRC Submission

038571-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

R0365 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

83373917-83404696 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 83403949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030207] [ENSMUST00000107214] [ENSMUST00000107215] [ENSMUST00000130626]

AlphaFold

Q99JF8

Predicted Effect

probably null
Transcript: ENSMUST00000030207

SMART Domains

Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484

Domain	Start	End	E-Value	Type
PWWP	5	62	1.98e-17	SMART
low complexity region	143	155	N/A	INTRINSIC
low complexity region	212	255	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	327	343	N/A	INTRINSIC
Pfam:LEDGF	347	448	4.4e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107214

SMART Domains

Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484

Domain	Start	End	E-Value	Type
PWWP	5	62	1.98e-17	SMART
low complexity region	143	155	N/A	INTRINSIC
low complexity region	212	255	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107215

SMART Domains

Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484

Domain	Start	End	E-Value	Type
PWWP	5	62	1.98e-17	SMART
low complexity region	143	155	N/A	INTRINSIC
low complexity region	212	255	N/A	INTRINSIC
low complexity region	269	290	N/A	INTRINSIC
low complexity region	316	327	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000130626

SMART Domains

Protein: ENSMUSP00000121950
Gene: ENSMUSG00000028484

Domain	Start	End	E-Value	Type
PWWP	5	62	1.98e-17	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene tend to die perinatally. Survivors show reduced fertility and a variety of skeletal and behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,088 (GRCm39)	M173K	probably benign	Het
Abcb1b	T	A	5: 8,856,009 (GRCm39)	F39Y	probably damaging	Het
Acbd3	A	G	1: 180,566,177 (GRCm39)	Y290C	probably damaging	Het
Alg12	A	C	15: 88,700,352 (GRCm39)	I28R	possibly damaging	Het
Amer2	A	T	14: 60,616,984 (GRCm39)	D393V	probably damaging	Het
Anxa5	A	T	3: 36,511,618 (GRCm39)	V153D	probably damaging	Het
Arl5a	T	C	2: 52,306,141 (GRCm39)	M64V	probably benign	Het
Astn1	T	C	1: 158,516,118 (GRCm39)	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,297,713 (GRCm39)	S424P	possibly damaging	Het
AW551984	A	T	9: 39,510,617 (GRCm39)	S239R	probably benign	Het
Baz1b	T	C	5: 135,268,985 (GRCm39)	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 123,361,799 (GRCm39)	L408I	probably benign	Het
Cdc27	A	T	11: 104,419,250 (GRCm39)	N227K	possibly damaging	Het
Cdh20	A	T	1: 110,036,486 (GRCm39)	Q555H	probably damaging	Het
Cdh23	T	A	10: 60,215,094 (GRCm39)	N1412I	probably damaging	Het
Cdhr2	T	C	13: 54,866,105 (GRCm39)	S302P	probably benign	Het
Cep350	C	A	1: 155,782,317 (GRCm39)	E1563D	probably benign	Het
Cfap221	T	A	1: 119,912,753 (GRCm39)	E107V	probably benign	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Coro6	A	T	11: 77,354,916 (GRCm39)	I60F	probably benign	Het
Dennd2b	A	T	7: 109,138,156 (GRCm39)	V753E	probably damaging	Het
Dock10	G	T	1: 80,573,400 (GRCm39)	N245K	probably damaging	Het
Epb41l2	T	A	10: 25,345,119 (GRCm39)	N286K	probably damaging	Het
Fam83g	G	T	11: 61,593,935 (GRCm39)	E490*	probably null	Het
Gnb1l	T	C	16: 18,371,211 (GRCm39)	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,885,747 (GRCm39)	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,470,276 (GRCm39)	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Il17ra	G	A	6: 120,455,410 (GRCm39)	V340M	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731 (GRCm39)	H76Q	probably benign	Het
Klhl25	T	C	7: 75,516,264 (GRCm39)	L390P	probably damaging	Het
Klhl26	T	C	8: 70,904,479 (GRCm39)	D443G	probably damaging	Het
Lama3	A	T	18: 12,640,064 (GRCm39)	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,599,984 (GRCm39)	A385V	probably benign	Het
Maea	C	T	5: 33,517,787 (GRCm39)	A109V	probably benign	Het
Mtor	A	T	4: 148,570,507 (GRCm39)	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,243,977 (GRCm39)	D202G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Nup155	C	T	15: 8,161,027 (GRCm39)	R571W	probably damaging	Het
Nup160	T	A	2: 90,539,188 (GRCm39)	M789K	probably benign	Het
Odad2	T	A	18: 7,217,800 (GRCm39)	H638L	probably benign	Het
Or5an1c	A	G	19: 12,218,440 (GRCm39)	F195S	probably benign	Het
Or5p50	A	T	7: 107,422,124 (GRCm39)	L184*	probably null	Het
Or8d2b	A	T	9: 38,788,481 (GRCm39)	H3L	probably benign	Het
Pgpep1	G	T	8: 71,105,174 (GRCm39)		probably null	Het
Pkd1l2	C	T	8: 117,748,589 (GRCm39)	V1861M	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plin4	G	T	17: 56,411,667 (GRCm39)	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902 (GRCm39)	D16G	possibly damaging	Het
Pramel22	G	T	4: 143,382,071 (GRCm39)	Y208*	probably null	Het
Prdm16	A	T	4: 154,426,513 (GRCm39)	I424N	probably damaging	Het
Psen2	T	A	1: 180,056,410 (GRCm39)	I396F	probably damaging	Het
Ptprd	G	A	4: 76,055,083 (GRCm39)	T215I	probably damaging	Het
Rec114	A	G	9: 58,648,822 (GRCm39)	S2P	probably benign	Het
Rexo1	A	G	10: 80,378,410 (GRCm39)	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,527,118 (GRCm39)	M1436T	probably benign	Het
Rnf213	T	A	11: 119,316,937 (GRCm39)	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,296,069 (GRCm39)	G83S	probably damaging	Het
Ryr2	T	G	13: 11,683,725 (GRCm39)	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,003,401 (GRCm39)	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,762,828 (GRCm39)		probably null	Het
Slc5a9	A	T	4: 111,749,033 (GRCm39)	Y98*	probably null	Het
Smc6	T	C	12: 11,333,175 (GRCm39)		probably null	Het
Sptb	G	T	12: 76,647,157 (GRCm39)	F1959L	probably benign	Het
Srgap1	T	A	10: 121,621,610 (GRCm39)	H984L	possibly damaging	Het
Ssc5d	T	A	7: 4,931,466 (GRCm39)	C224*	probably null	Het
Ston2	A	T	12: 91,614,634 (GRCm39)	H591Q	probably benign	Het
Tbx3	C	T	5: 119,813,315 (GRCm39)	A222V	possibly damaging	Het
Thsd7a	A	G	6: 12,321,886 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,364,732 (GRCm39)	D1027G	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Zfpm2	A	G	15: 40,637,462 (GRCm39)	E74G	possibly damaging	Het
Zwint	C	A	10: 72,493,127 (GRCm39)	S223*	probably null	Het

Other mutations in Psip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02414:Psip1	APN	4	83,386,874 (GRCm39)	missense	probably benign	0.00
IGL02801:Psip1	APN	4	83,376,357 (GRCm39)	missense	probably benign	0.02
IGL02995:Psip1	APN	4	83,381,954 (GRCm39)	intron	probably benign
IGL03070:Psip1	APN	4	83,383,318 (GRCm39)	missense	probably damaging	0.99
IGL03381:Psip1	APN	4	83,404,022 (GRCm39)	missense	probably benign	0.03
R0167:Psip1	UTSW	4	83,385,055 (GRCm39)	splice site	probably null
R0288:Psip1	UTSW	4	83,383,196 (GRCm39)	missense	probably damaging	1.00
R0514:Psip1	UTSW	4	83,378,274 (GRCm39)	missense	probably damaging	1.00
R0590:Psip1	UTSW	4	83,376,381 (GRCm39)	missense	probably benign	0.00
R0734:Psip1	UTSW	4	83,381,825 (GRCm39)	intron	probably benign
R0774:Psip1	UTSW	4	83,378,689 (GRCm39)	frame shift	probably null
R1016:Psip1	UTSW	4	83,378,135 (GRCm39)	missense	possibly damaging	0.48
R1256:Psip1	UTSW	4	83,392,604 (GRCm39)	missense	probably benign
R1819:Psip1	UTSW	4	83,376,400 (GRCm39)	missense	probably benign	0.01
R1993:Psip1	UTSW	4	83,400,769 (GRCm39)	missense	probably damaging	0.99
R5423:Psip1	UTSW	4	83,378,367 (GRCm39)	intron	probably benign
R5940:Psip1	UTSW	4	83,394,559 (GRCm39)	missense	probably damaging	1.00
R6173:Psip1	UTSW	4	83,391,286 (GRCm39)	splice site	probably null
R6200:Psip1	UTSW	4	83,392,610 (GRCm39)	missense	probably benign	0.20
R6809:Psip1	UTSW	4	83,386,879 (GRCm39)	missense	probably benign	0.00
R7488:Psip1	UTSW	4	83,391,275 (GRCm39)	critical splice donor site	probably null
R8021:Psip1	UTSW	4	83,378,192 (GRCm39)	missense	possibly damaging	0.75
R8516:Psip1	UTSW	4	83,384,952 (GRCm39)	missense	probably benign
R9564:Psip1	UTSW	4	83,386,888 (GRCm39)	missense	possibly damaging	0.80
RF005:Psip1	UTSW	4	83,378,735 (GRCm39)	missense	probably damaging	1.00
RF024:Psip1	UTSW	4	83,378,735 (GRCm39)	missense	probably damaging	1.00
Z1176:Psip1	UTSW	4	83,378,111 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- ACATGCAAGGGCTTGGAGTCTG -3'
(R):5'- CCTGGGGTTTGCGCTTTAACCG -3'

Sequencing Primer
(F):5'- GATGATTTCGCCTCAATGAAACG -3'
(R):5'- GGACACCCCGAGGCATC -3'

Posted On

2013-05-09