Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03381:Psip1'

420698

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psip1

Ensembl Gene

ENSMUSG00000028484

Gene Name

PC4 and SFRS1 interacting protein 1

Synonyms

Psip2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

IGL03381

Quality Score

Status

Chromosome

Chromosomal Location

83373917-83404696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83404022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000102833 (fasta)

Gene Model

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

AlphaFold

Q99JF8

Predicted Effect

probably benign
Transcript: ENSMUST00000030207
AA Change: T2A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
AA Change: T2A

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
AA Change: T2A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484
AA Change: T2A

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
AA Change: T2A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484
AA Change: T2A

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: ENSMUST00000130626
AA Change: T2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121950
Gene: ENSMUSG00000028484
AA Change: T2A

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

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	T	C	17: 47,200,812 (GRCm39)		probably benign	Het
Abca16	T	C	7: 120,127,041 (GRCm39)	F1243S	probably benign	Het
Adgrv1	A	G	13: 81,666,086 (GRCm39)	V1990A	probably damaging	Het
Arhgdib	G	A	6: 136,909,314 (GRCm39)	T69I	probably benign	Het
Atf2	G	A	2: 73,659,012 (GRCm39)	A214V	probably benign	Het
Ccr2	G	A	9: 123,906,409 (GRCm39)	V230I	probably benign	Het
Cnksr1	T	C	4: 133,959,482 (GRCm39)	E384G	probably damaging	Het
Epha5	T	A	5: 84,479,191 (GRCm39)	D271V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gpr15	A	G	16: 58,538,339 (GRCm39)	F250S	probably damaging	Het
Gzmf	A	T	14: 56,444,450 (GRCm39)	V41E	probably benign	Het
H2-T10	C	T	17: 36,430,246 (GRCm39)	D232N	probably benign	Het
H2-T10	T	A	17: 36,430,249 (GRCm39)	K231*	probably null	Het
Hsd3b6	A	G	3: 98,715,128 (GRCm39)	V88A	possibly damaging	Het
Kit	C	T	5: 75,767,788 (GRCm39)	T57M	probably benign	Het
Klhl22	A	G	16: 17,610,591 (GRCm39)	D614G	possibly damaging	Het
Matr3	T	A	18: 35,712,078 (GRCm39)		probably benign	Het
Mff	A	G	1: 82,719,661 (GRCm39)	Y213C	probably damaging	Het
Mrnip	A	G	11: 50,090,417 (GRCm39)	T194A	probably benign	Het
Msh6	T	C	17: 88,292,537 (GRCm39)	F431L	probably damaging	Het
Mttp	G	A	3: 137,810,704 (GRCm39)	R637C	probably damaging	Het
Nlrc3	A	G	16: 3,782,179 (GRCm39)	V410A	probably benign	Het
Or4c120	A	G	2: 89,001,523 (GRCm39)	I11T	possibly damaging	Het
Or52a5b	T	C	7: 103,417,044 (GRCm39)	I187V	probably benign	Het
Or5b108	T	A	19: 13,168,769 (GRCm39)	V246D	probably damaging	Het
Pramel21	T	C	4: 143,343,625 (GRCm39)		probably benign	Het
Rbm33	T	C	5: 28,599,390 (GRCm39)	F921L	unknown	Het
Rhbdl2	T	C	4: 123,716,610 (GRCm39)	V189A	possibly damaging	Het
Rpap2	C	T	5: 107,768,067 (GRCm39)	P302S	probably benign	Het
Sec23ip	T	A	7: 128,352,029 (GRCm39)	V32D	probably damaging	Het
Sh3yl1	T	C	12: 30,976,836 (GRCm39)	I47T	possibly damaging	Het
Spmip4	T	C	6: 50,566,116 (GRCm39)	S120G	probably damaging	Het
Tenm2	A	C	11: 35,959,238 (GRCm39)	S1104A	probably benign	Het
Ufd1	A	G	16: 18,644,507 (GRCm39)	D190G	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,512 (GRCm39)	F224L	probably benign	Het
Utp20	G	T	10: 88,657,867 (GRCm39)	F64L	probably damaging	Het
Vmn1r198	A	G	13: 22,539,006 (GRCm39)	Y164C	probably benign	Het
Wdcp	T	A	12: 4,901,926 (GRCm39)	V594D	probably damaging	Het
Xirp2	A	C	2: 67,344,570 (GRCm39)	E2270D	probably benign	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
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
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

Posted On

2016-08-02