Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00499:Pnisr'

6704

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: 0.959) question?

Stock #

IGL00499

Quality Score

Status

Chromosome

Chromosomal Location

21847583-21876475 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 21870407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095840 (fasta)

Gene Model

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

AlphaFold

A2AJT4

Predicted Effect

probably null
Transcript: ENSMUST00000029911

SMART Domains

Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248

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

probably null
Transcript: ENSMUST00000098238

SMART Domains

Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	C	A	10: 70,711,138 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,215,301 (GRCm39)	D480G	possibly damaging	Het
Adam26a	A	T	8: 44,021,896 (GRCm39)	N531K	possibly damaging	Het
AW554918	A	T	18: 25,553,122 (GRCm39)	K542*	probably null	Het
Blk	A	G	14: 63,618,169 (GRCm39)	F246L	probably damaging	Het
Camk1	T	C	6: 113,313,172 (GRCm39)	E292G	probably benign	Het
Ccdc88a	C	T	11: 29,449,341 (GRCm39)	T261I	probably benign	Het
Cep290	A	T	10: 100,379,189 (GRCm39)	Q57L	probably damaging	Het
Cpsf1	A	T	15: 76,484,416 (GRCm39)	H688Q	probably benign	Het
Cryz	T	C	3: 154,310,579 (GRCm39)	V13A	possibly damaging	Het
Dst	A	G	1: 34,329,504 (GRCm39)	K6858R	probably damaging	Het
Dync2h1	A	T	9: 7,168,700 (GRCm39)	V371E	possibly damaging	Het
Eps8	C	A	6: 137,499,886 (GRCm39)	E181*	probably null	Het
Flt4	T	C	11: 49,526,088 (GRCm39)	I796T	probably damaging	Het
Gmps	A	G	3: 63,921,788 (GRCm39)	N597S	probably benign	Het
Itgav	T	A	2: 83,633,339 (GRCm39)	M1011K	probably damaging	Het
Kif16b	A	G	2: 142,699,244 (GRCm39)	M112T	probably damaging	Het
Lig1	T	C	7: 13,032,756 (GRCm39)		probably null	Het
Lrrc30	A	G	17: 67,939,034 (GRCm39)	F182S	probably damaging	Het
Oxsm	A	T	14: 16,242,076 (GRCm38)	M231K	probably damaging	Het
Rsrc1	A	T	3: 66,989,933 (GRCm39)		probably benign	Het
Setd1b	A	T	5: 123,296,810 (GRCm39)		probably benign	Het
Tbx6	A	G	7: 126,380,701 (GRCm39)	Y8C	probably damaging	Het
Tmem33	T	C	5: 67,441,538 (GRCm39)	Y196H	probably damaging	Het
Traf5	T	C	1: 191,741,589 (GRCm39)	D96G	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,357 (GRCm39)	D945E	probably damaging	Het
Tubb2b	T	C	13: 34,312,329 (GRCm39)	I155V	probably benign	Het
Usp13	T	A	3: 32,935,560 (GRCm39)	Y328N	probably damaging	Het
Usp17lc	G	A	7: 103,067,673 (GRCm39)	D323N	probably damaging	Het
Usp17lc	G	A	7: 103,067,672 (GRCm39)	M322I	probably damaging	Het
Zfp341	C	T	2: 154,476,151 (GRCm39)	T446I	probably damaging	Het
Zfp407	A	G	18: 84,579,877 (GRCm39)	L412P	probably damaging	Het
Zfp521	T	A	18: 14,072,177 (GRCm39)	D21V	probably benign	Het
Zranb1	A	G	7: 132,584,233 (GRCm39)		probably benign	Het

Other mutations in Pnisr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Pnisr	APN	4	21,874,650 (GRCm39)	unclassified	probably benign
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

2012-04-20