Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Psip1'

48088

Institutional Source

Beutler Lab

Gene Symbol

Psip1

Ensembl Gene

ENSMUSG00000028484

Gene Name

PC4 and SFRS1 interacting protein 1

Synonyms

Psip2

MMRRC Submission

038708-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

R0514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83373917-83404696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83378274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 407 (S407R)

Ref Sequence

ENSEMBL: ENSMUSP00000030207 (fasta)

Gene Model

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

AlphaFold

Q99JF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030207
AA Change: S407R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
AA Change: S407R

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: ENSMUST00000130676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152382

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,241,406 (GRCm39)	D579V	probably damaging	Het
Adamts18	C	T	8: 114,465,401 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Arnt2	T	C	7: 83,954,067 (GRCm39)	E261G	probably benign	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cfb	T	C	17: 35,079,874 (GRCm39)	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,245,352 (GRCm39)	Y547*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prox1	G	A	1: 189,893,653 (GRCm39)	T264I	probably damaging	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Ubn1	A	T	16: 4,890,935 (GRCm39)	D498V	probably damaging	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	probably damaging	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
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'- GCGCAAGCATGACAAGCATCAG -3'
(R):5'- TCAGGTAACAATGCAGCAAGCTCAG -3'

Sequencing Primer
(F):5'- GGATCACCACATACCTGTTGG -3'
(R):5'- GCTCAGAAACACACAGAGATG -3'

Posted On

2013-06-12