Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01467:Pnisr'

88139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnisr

Ensembl Gene

ENSMUSG00000028248

Gene Name

PNN interacting serine/arginine-rich

Synonyms

Sfrs18, 5730406M06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL01467

Quality Score

Status

Chromosome

Chromosomal Location

21847583-21876475 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 21874650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029911] [ENSMUST00000098238] [ENSMUST00000108229] [ENSMUST00000185001]

AlphaFold

A2AJT4

Predicted Effect

unknown
Transcript: ENSMUST00000029911
AA Change: H798Y

SMART Domains

Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248
AA Change: H798Y

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
internal_repeat_1	57	86	6.59e-5	PROSPERO
low complexity region	94	117	N/A	INTRINSIC
internal_repeat_1	121	149	6.59e-5	PROSPERO
low complexity region	181	194	N/A	INTRINSIC
Pfam:PNISR	223	391	1.1e-55	PFAM
low complexity region	429	449	N/A	INTRINSIC
low complexity region	494	586	N/A	INTRINSIC
low complexity region	592	640	N/A	INTRINSIC
low complexity region	664	703	N/A	INTRINSIC
low complexity region	746	783	N/A	INTRINSIC
low complexity region	789	814	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000098238
AA Change: H798Y

SMART Domains

Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248
AA Change: H798Y

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
internal_repeat_1	57	86	7.37e-5	PROSPERO
low complexity region	94	117	N/A	INTRINSIC
internal_repeat_1	121	149	7.37e-5	PROSPERO
low complexity region	181	194	N/A	INTRINSIC
coiled coil region	240	276	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
low complexity region	318	331	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC
low complexity region	376	415	N/A	INTRINSIC
low complexity region	429	449	N/A	INTRINSIC
low complexity region	494	586	N/A	INTRINSIC
low complexity region	592	640	N/A	INTRINSIC
low complexity region	664	703	N/A	INTRINSIC
low complexity region	746	783	N/A	INTRINSIC
low complexity region	789	805	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108229

SMART Domains

Protein: ENSMUSP00000103864
Gene: ENSMUSG00000028248

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
low complexity region	94	117	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
coiled coil region	240	276	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
low complexity region	318	331	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148561

Predicted Effect

probably benign
Transcript: ENSMUST00000185001

SMART Domains

Protein: ENSMUSP00000139324
Gene: ENSMUSG00000028248

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC
low complexity region	94	117	N/A	INTRINSIC
low complexity region	181	194	N/A	INTRINSIC
coiled coil region	240	276	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
low complexity region	318	331	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	G	5: 121,657,791 (GRCm39)	C501R	probably damaging	Het
Atxn1	C	T	13: 45,720,669 (GRCm39)	V409I	probably damaging	Het
Cdkn2aip	T	C	8: 48,164,247 (GRCm39)	R489G	probably damaging	Het
Cgn	A	G	3: 94,686,898 (GRCm39)	S135P	probably damaging	Het
Cpne3	C	A	4: 19,553,737 (GRCm39)	C98F	probably benign	Het
Cyp2c23	T	C	19: 44,003,512 (GRCm39)	N221S	possibly damaging	Het
Dnah8	A	G	17: 30,998,890 (GRCm39)	N3525S	probably damaging	Het
Efr3b	T	C	12: 4,019,597 (GRCm39)	E560G	probably damaging	Het
Eif2b5	C	A	16: 20,327,714 (GRCm39)	C154*	probably null	Het
Eps8l2	A	G	7: 140,941,514 (GRCm39)	E595G	probably damaging	Het
Gm9839	A	T	1: 32,559,032 (GRCm39)	I350N	probably damaging	Het
Hdlbp	A	T	1: 93,345,420 (GRCm39)		probably benign	Het
Il18rap	A	T	1: 40,587,799 (GRCm39)	I466F	probably damaging	Het
Itpr1	T	A	6: 108,465,457 (GRCm39)	I2123N	probably damaging	Het
Jakmip2	A	G	18: 43,715,352 (GRCm39)	I58T	probably benign	Het
Kdm2a	A	G	19: 4,374,435 (GRCm39)	S899P	probably damaging	Het
Mmp15	T	A	8: 96,092,959 (GRCm39)	F113I	probably benign	Het
Neb	T	C	2: 52,049,499 (GRCm39)	H6448R	possibly damaging	Het
Or1j12	C	T	2: 36,342,656 (GRCm39)	R20*	probably null	Het
Or2m13	T	C	16: 19,226,539 (GRCm39)	T77A	probably benign	Het
Pdgfc	A	G	3: 81,116,398 (GRCm39)	T251A	probably damaging	Het
Pdgfra	T	C	5: 75,346,292 (GRCm39)		probably null	Het
Pdpk1	A	G	17: 24,307,144 (GRCm39)	S269P	probably damaging	Het
Pip4k2c	A	T	10: 127,035,498 (GRCm39)	F347L	probably benign	Het
Platr26	T	C	2: 71,553,656 (GRCm39)		noncoding transcript	Het
Psma5-ps	A	G	10: 85,149,986 (GRCm39)		noncoding transcript	Het
Rab3gap1	T	A	1: 127,858,121 (GRCm39)		probably null	Het
Scn10a	C	T	9: 119,487,478 (GRCm39)	V619I	probably benign	Het
Slc38a11	T	A	2: 65,147,200 (GRCm39)	T426S	probably benign	Het
Son	T	C	16: 91,454,165 (GRCm39)	S971P	possibly damaging	Het
Stk33	T	A	7: 108,928,796 (GRCm39)	I239L	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tmem270	G	T	5: 134,930,815 (GRCm39)		probably benign	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zfp750	A	T	11: 121,403,767 (GRCm39)	C369*	probably null	Het

Other mutations in Pnisr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Pnisr	APN	4	21,870,407 (GRCm39)	critical splice donor site	probably null
IGL01997:Pnisr	APN	4	21,871,537 (GRCm39)	missense	possibly damaging	0.95
IGL02641:Pnisr	APN	4	21,860,908 (GRCm39)	missense	probably benign	0.03
IGL02756:Pnisr	APN	4	21,862,175 (GRCm39)	missense	probably benign	0.07
R0106:Pnisr	UTSW	4	21,874,617 (GRCm39)	unclassified	probably benign
R0106:Pnisr	UTSW	4	21,874,617 (GRCm39)	unclassified	probably benign
R0620:Pnisr	UTSW	4	21,874,092 (GRCm39)	unclassified	probably benign
R0636:Pnisr	UTSW	4	21,873,800 (GRCm39)	unclassified	probably benign
R1179:Pnisr	UTSW	4	21,865,937 (GRCm39)	missense	possibly damaging	0.95
R1388:Pnisr	UTSW	4	21,862,041 (GRCm39)	missense	possibly damaging	0.88
R1450:Pnisr	UTSW	4	21,874,912 (GRCm39)	critical splice acceptor site	probably null
R1609:Pnisr	UTSW	4	21,871,440 (GRCm39)	nonsense	probably null
R1663:Pnisr	UTSW	4	21,873,857 (GRCm39)	unclassified	probably benign
R1670:Pnisr	UTSW	4	21,865,893 (GRCm39)	missense	probably damaging	1.00
R1721:Pnisr	UTSW	4	21,874,086 (GRCm39)	unclassified	probably benign
R1792:Pnisr	UTSW	4	21,860,968 (GRCm39)	missense	possibly damaging	0.94
R1867:Pnisr	UTSW	4	21,874,086 (GRCm39)	unclassified	probably benign
R1868:Pnisr	UTSW	4	21,874,086 (GRCm39)	unclassified	probably benign
R1909:Pnisr	UTSW	4	21,869,517 (GRCm39)	missense	possibly damaging	0.88
R1931:Pnisr	UTSW	4	21,873,612 (GRCm39)	missense	probably benign	0.01
R4843:Pnisr	UTSW	4	21,857,400 (GRCm39)	intron	probably benign
R4917:Pnisr	UTSW	4	21,859,330 (GRCm39)	intron	probably benign
R5076:Pnisr	UTSW	4	21,874,990 (GRCm39)	unclassified	probably benign
R5164:Pnisr	UTSW	4	21,859,237 (GRCm39)	missense	possibly damaging	0.88
R5227:Pnisr	UTSW	4	21,874,587 (GRCm39)	unclassified	probably benign
R6722:Pnisr	UTSW	4	21,859,165 (GRCm39)	missense	probably damaging	0.99
R7878:Pnisr	UTSW	4	21,874,370 (GRCm39)	missense	unknown
R8512:Pnisr	UTSW	4	21,870,372 (GRCm39)	nonsense	probably null
R9049:Pnisr	UTSW	4	21,854,391 (GRCm39)	missense	unknown
R9680:Pnisr	UTSW	4	21,873,586 (GRCm39)	missense	probably damaging	0.99
Z1088:Pnisr	UTSW	4	21,873,684 (GRCm39)	missense	probably benign
Z1176:Pnisr	UTSW	4	21,873,684 (GRCm39)	missense	probably benign
Z1177:Pnisr	UTSW	4	21,873,684 (GRCm39)	missense	probably benign

Posted On

2013-11-18