Mutagenetix > Incidental Mutation

Incidental Mutation 'R1819:Psip1'

204685

Institutional Source

Beutler Lab

Gene Symbol

Psip1

Ensembl Gene

ENSMUSG00000028484

Gene Name

PC4 and SFRS1 interacting protein 1

Synonyms

Psip2

MMRRC Submission

039847-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83373917-83404696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83376400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 480 (S480P)

Ref Sequence

ENSEMBL: ENSMUSP00000030207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030206] [ENSMUST00000030207] [ENSMUST00000107214] [ENSMUST00000107215] [ENSMUST00000123262] [ENSMUST00000124856] [ENSMUST00000137512] [ENSMUST00000143533]

AlphaFold

Q99JF8

Predicted Effect

probably benign
Transcript: ENSMUST00000030206

SMART Domains

Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	198	401	6.5e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030207
AA Change: S480P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
AA Change: S480P

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 benign
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 benign
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 benign
Transcript: ENSMUST00000123262

SMART Domains

Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	197	403	3.3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124856

SMART Domains

Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	197	403	3.3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126706

SMART Domains

Protein: ENSMUSP00000120799
Gene: ENSMUSG00000028484

Domain	Start	End	E-Value	Type
low complexity region	1	20	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152382

Predicted Effect

probably benign
Transcript: ENSMUST00000137512

Predicted Effect

probably benign
Transcript: ENSMUST00000143533

SMART Domains

Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483

Domain	Start	End	E-Value	Type
Pfam:zf-SNAP50_C	197	403	3.3e-76	PFAM

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,871,882 (GRCm39)		probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Acad11	G	A	9: 103,991,738 (GRCm39)		probably null	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afdn	A	G	17: 14,071,110 (GRCm39)	T783A	probably damaging	Het
Akap13	T	A	7: 75,258,453 (GRCm39)	M359K	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atl1	T	C	12: 70,010,074 (GRCm39)	S547P	probably benign	Het
Bace1	A	T	9: 45,768,460 (GRCm39)	T252S	possibly damaging	Het
BC034090	A	G	1: 155,101,575 (GRCm39)	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Capn8	T	A	1: 182,426,391 (GRCm39)	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,926,195 (GRCm39)	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,110,047 (GRCm39)	Q385*	probably null	Het
Cdh10	G	T	15: 18,992,051 (GRCm39)	G437*	probably null	Het
Ceacam1	T	A	7: 25,163,285 (GRCm39)	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cers4	T	A	8: 4,571,232 (GRCm39)	M267K	probably benign	Het
Csmd3	T	C	15: 47,617,131 (GRCm39)	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dus2	T	A	8: 106,778,480 (GRCm39)	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,348,081 (GRCm39)	D111G	probably damaging	Het
Erich4	C	T	7: 25,314,715 (GRCm39)	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 27,784,708 (GRCm39)	R256L	probably benign	Het
Fdxr	A	T	11: 115,166,930 (GRCm39)	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Foxo3	A	T	10: 42,073,607 (GRCm39)	D84E	probably benign	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gli3	C	T	13: 15,900,377 (GRCm39)	Q1255*	probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Gpr171	T	C	3: 59,005,341 (GRCm39)	I145V	probably benign	Het
Gpr68	T	A	12: 100,844,662 (GRCm39)	H294L	possibly damaging	Het
Gys2	T	C	6: 142,406,912 (GRCm39)	E148G	probably damaging	Het
Heatr5b	T	C	17: 79,098,940 (GRCm39)	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,413,834 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,692,976 (GRCm39)	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,222,889 (GRCm39)	S97T	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kcnj11	C	T	7: 45,748,580 (GRCm39)	G248S	probably benign	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,372,124 (GRCm39)	Y205C	probably damaging	Het
Lima1	T	A	15: 99,717,817 (GRCm39)	H63L	probably benign	Het
Lonrf3	A	G	X: 35,622,361 (GRCm39)	I687V	probably damaging	Het
Lrba	A	G	3: 86,449,941 (GRCm39)	T2099A	possibly damaging	Het
Morn5	C	T	2: 35,942,987 (GRCm39)	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,657,674 (GRCm39)	R22H	probably benign	Het
Nr2e3	T	C	9: 59,850,720 (GRCm39)	I380V	probably damaging	Het
Oas1c	G	A	5: 120,946,800 (GRCm39)	A10V	possibly damaging	Het
Or1e35	T	C	11: 73,797,505 (GRCm39)	E271G	probably benign	Het
Or52e8	C	T	7: 104,624,605 (GRCm39)	V196I	probably benign	Het
P3h3	T	C	6: 124,831,895 (GRCm39)	T297A	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Plec	C	T	15: 76,064,106 (GRCm39)	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,472,494 (GRCm39)	N1079K	probably benign	Het
Prr12	G	C	7: 44,698,121 (GRCm39)		probably benign	Het
Ptpre	A	G	7: 135,270,722 (GRCm39)		probably benign	Het
Pvalb	A	C	15: 78,086,784 (GRCm39)	V44G	probably damaging	Het
Rab3c	T	G	13: 110,220,669 (GRCm39)	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,647,284 (GRCm39)	K703R	possibly damaging	Het
Setd7	T	G	3: 51,450,060 (GRCm39)	H122P	probably benign	Het
Slc26a8	A	T	17: 28,903,808 (GRCm39)	F19I	probably benign	Het
Slc6a14	A	G	X: 21,607,286 (GRCm39)	D625G	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,906,696 (GRCm39)	F40L	possibly damaging	Het
Syt8	G	A	7: 141,991,971 (GRCm39)	G21R	possibly damaging	Het
Tagln	A	G	9: 45,842,138 (GRCm39)	F152L	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,937,442 (GRCm39)	S1202N	probably benign	Het
Tekt2	T	C	4: 126,217,529 (GRCm39)	K179E	probably damaging	Het
Tekt4	G	T	17: 25,692,785 (GRCm39)		probably null	Het
Tmprss5	G	T	9: 49,018,464 (GRCm39)	R98L	probably benign	Het
Tns1	G	T	1: 73,955,635 (GRCm39)		probably benign	Het
Tpcn1	A	C	5: 120,674,292 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,741,286 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,964,796 (GRCm39)	N706S	possibly damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr17	A	T	8: 55,143,159 (GRCm39)	S140T	probably benign	Het
Wdr19	A	T	5: 65,370,234 (GRCm39)	I123F	possibly damaging	Het
Zer1	C	T	2: 30,000,230 (GRCm39)	A317T	probably benign	Het
Zfp474	A	G	18: 52,771,872 (GRCm39)	D175G	probably damaging	Het
Zfp598	T	C	17: 24,900,104 (GRCm39)		probably benign	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		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
R0365:Psip1	UTSW	4	83,403,949 (GRCm39)	splice site	probably null
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
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'- GGGCTTTACTGTGCTAAAATCATG -3'
(R):5'- CGGTAGTCCAACTTTTCATTGTTG -3'

Sequencing Primer
(F):5'- CAGACTGCTGTGAGCTGCTATATAG -3'
(R):5'- GTTGTCCGAAATGACTTGAACC -3'

Posted On

2014-06-23