Mutagenetix > Incidental Mutation

Incidental Mutation 'R1450:Pnisr'

254668

Institutional Source

Beutler Lab

Gene Symbol

Pnisr

Ensembl Gene

ENSMUSG00000028248

Gene Name

PNN interacting serine/arginine-rich

Synonyms

Sfrs18, 5730406M06Rik

MMRRC Submission

039505-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1450 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

21847583-21876475 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 21874912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029909] [ENSMUST00000029911] [ENSMUST00000098238] [ENSMUST00000108229] [ENSMUST00000185001]

AlphaFold

A2AJT4

Predicted Effect

probably benign
Transcript: ENSMUST00000029909

SMART Domains

Protein: ENSMUSP00000029909
Gene: ENSMUSG00000028247

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:Ubie_methyltran	116	278	2.2e-8	PFAM
Pfam:Methyltransf_23	122	305	1.4e-24	PFAM
Pfam:PrmA	143	262	2.4e-7	PFAM
Pfam:CMAS	144	338	3.9e-12	PFAM
Pfam:Methyltransf_31	145	305	4.3e-16	PFAM
Pfam:Methyltransf_18	147	254	8.3e-16	PFAM
Pfam:Methyltransf_25	151	247	5e-10	PFAM
Pfam:Methyltransf_12	152	249	1.2e-15	PFAM
Pfam:Methyltransf_11	152	251	1.6e-21	PFAM

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 benign
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

Meta Mutation Damage Score

0.8900

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

96% (73/76)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,380,531 (GRCm39)		probably benign	Het
Adh4	C	T	3: 138,129,935 (GRCm39)	P254S	probably damaging	Het
Amfr	T	C	8: 94,714,375 (GRCm39)	T223A	probably benign	Het
Ank2	T	C	3: 126,750,951 (GRCm39)	T412A	possibly damaging	Het
Bag6	T	A	17: 35,360,934 (GRCm39)	D422E	probably benign	Het
Ccdc185	T	G	1: 182,575,129 (GRCm39)	Q520P	possibly damaging	Het
Cfap276	T	A	3: 108,449,799 (GRCm39)		probably null	Het
Clock	G	A	5: 76,410,578 (GRCm39)	Q98*	probably null	Het
Cngb3	A	T	4: 19,395,922 (GRCm39)		probably benign	Het
Csmd1	T	G	8: 15,995,180 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,365,130 (GRCm39)	L1636P	probably damaging	Het
Dennd4a	A	G	9: 64,818,947 (GRCm39)	I1701V	probably benign	Het
Dgcr2	T	C	16: 17,674,678 (GRCm39)	H243R	possibly damaging	Het
Dimt1	A	G	13: 107,084,151 (GRCm39)	N46S	probably benign	Het
Dnah9	T	C	11: 65,818,612 (GRCm39)	Y58C	probably damaging	Het
Dsg1b	T	A	18: 20,542,241 (GRCm39)	V916E	probably damaging	Het
Dst	T	C	1: 34,227,476 (GRCm39)	S1690P	probably damaging	Het
Dst	T	A	1: 34,251,340 (GRCm39)	I2131K	probably damaging	Het
Epb41l1	T	C	2: 156,353,745 (GRCm39)		probably benign	Het
Fem1a	T	C	17: 56,564,579 (GRCm39)	V224A	probably damaging	Het
Got2	C	T	8: 96,598,614 (GRCm39)	E203K	probably benign	Het
Hcar2	A	T	5: 124,002,813 (GRCm39)	I230N	probably damaging	Het
Herc3	A	T	6: 58,853,500 (GRCm39)	K554*	probably null	Het
Hfm1	A	G	5: 107,066,324 (GRCm39)	F35L	probably damaging	Het
Hmcn1	A	G	1: 150,528,257 (GRCm39)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hs2st1	C	T	3: 144,140,479 (GRCm39)		probably benign	Het
Igfbp5	T	A	1: 72,913,048 (GRCm39)	D84V	probably benign	Het
Ints3	C	A	3: 90,340,135 (GRCm39)	L41F	probably damaging	Het
Ipo5	T	C	14: 121,181,805 (GRCm39)	V966A	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kpna2	A	G	11: 106,888,135 (GRCm39)	S2P	probably benign	Het
Lct	A	G	1: 128,235,640 (GRCm39)	S456P	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc7	T	G	3: 157,892,681 (GRCm39)	I323L	possibly damaging	Het
Ly6g	A	G	15: 75,030,482 (GRCm39)	K77R	probably benign	Het
Maea	T	C	5: 33,523,144 (GRCm39)		probably null	Het
Marco	A	T	1: 120,404,474 (GRCm39)		probably benign	Het
Mcmbp	G	T	7: 128,317,655 (GRCm39)		probably benign	Het
Mtcl3	A	T	10: 29,023,736 (GRCm39)	N361I	probably damaging	Het
Mtr	T	A	13: 12,208,619 (GRCm39)	R1017W	probably damaging	Het
Myo15a	T	A	11: 60,386,308 (GRCm39)	I1811N	probably damaging	Het
Nbeal2	G	A	9: 110,462,740 (GRCm39)		probably benign	Het
Nlrp10	A	G	7: 108,524,595 (GRCm39)	V295A	probably damaging	Het
Or10ak7	T	C	4: 118,791,707 (GRCm39)	T111A	probably benign	Het
Or51ac3	A	G	7: 103,213,658 (GRCm39)	V276A	probably benign	Het
Or5e1	A	T	7: 108,354,719 (GRCm39)	I219F	probably damaging	Het
Pde4b	A	T	4: 102,458,832 (GRCm39)	Q496L	probably damaging	Het
Peg12	C	A	7: 62,113,324 (GRCm39)	G258*	probably null	Het
Pigc	A	G	1: 161,798,822 (GRCm39)	Y268C	probably benign	Het
Poteg	T	C	8: 27,937,871 (GRCm39)	F5S	probably benign	Het
Prss40	T	A	1: 34,595,178 (GRCm39)	I101F	probably benign	Het
Ptges3l	T	A	11: 101,312,731 (GRCm39)	D113V	possibly damaging	Het
Raver2	T	C	4: 100,993,349 (GRCm39)	S510P	possibly damaging	Het
Rgr	A	T	14: 36,766,641 (GRCm39)	C94*	probably null	Het
Rp1l1	T	A	14: 64,265,599 (GRCm39)	I395N	probably benign	Het
Sesn3	T	A	9: 14,227,520 (GRCm39)	H168Q	possibly damaging	Het
Sox30	C	A	11: 45,908,098 (GRCm39)	P755Q	probably damaging	Het
Stac3	T	C	10: 127,340,754 (GRCm39)	F173S	probably damaging	Het
Synj2	C	A	17: 6,077,599 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,297,244 (GRCm39)	I120L	probably benign	Het
Tas2r124	A	G	6: 132,732,019 (GRCm39)	I109M	probably damaging	Het
Tm4sf19	A	T	16: 32,226,781 (GRCm39)	H190L	probably damaging	Het
Tmem143	T	G	7: 45,556,532 (GRCm39)	V179G	probably damaging	Het
Ubr4	T	C	4: 139,195,339 (GRCm39)	F1187S	probably damaging	Het
Ubtfl1	A	G	9: 18,321,209 (GRCm39)	R246G	possibly damaging	Het
Zdhhc5	A	G	2: 84,532,733 (GRCm39)	F57S	probably damaging	Het
Zfp40	A	T	17: 23,394,232 (GRCm39)	M717K	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACACAAGTCTAAGTCCCGATCAAGGTA -3'
(R):5'- GGCCCTTTCCCGAACCCTTAAAATT -3'

Sequencing Primer
(F):5'- CAAAGTTGAAAGTGTCCTTTCTCTC -3'
(R):5'- AGCATCATGGCATTCTTGCC -3'

Posted On

2014-12-05