Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Pnisr'

395753

Institutional Source

Beutler Lab

Gene Symbol

Pnisr

Ensembl Gene

ENSMUSG00000028248

Gene Name

PNN interacting serine/arginine-rich

Synonyms

Sfrs18, 5730406M06Rik

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21847583-21876475 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 21874990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139324 (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 benign
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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,963,559 (GRCm39)	I72V	probably benign	Het
Aadacl3	G	A	4: 144,182,640 (GRCm39)	P276L	possibly damaging	Het
Acp6	T	A	3: 97,075,305 (GRCm39)	S180T	probably benign	Het
Adgrd1	A	T	5: 129,221,053 (GRCm39)	R449*	probably null	Het
Ak1	T	C	2: 32,523,460 (GRCm39)	V176A	probably damaging	Het
Capzb	A	T	4: 139,015,125 (GRCm39)	D226V	possibly damaging	Het
Cd34	A	T	1: 194,630,338 (GRCm39)		probably benign	Het
Cdh15	C	A	8: 123,591,087 (GRCm39)	D445E	possibly damaging	Het
Chil4	A	G	3: 106,109,913 (GRCm39)	F367L	probably damaging	Het
Clstn2	T	C	9: 97,365,132 (GRCm39)	Y458C	probably damaging	Het
Cplane2	A	G	4: 140,944,696 (GRCm39)	I82M	probably benign	Het
Ctsw	T	C	19: 5,518,486 (GRCm39)	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,706,255 (GRCm39)	D50G	probably benign	Het
Dnah14	A	G	1: 181,584,799 (GRCm39)	K3177E	probably benign	Het
Ehd1	T	C	19: 6,327,251 (GRCm39)	F83L	probably benign	Het
Eif5a2	G	A	3: 28,836,886 (GRCm39)	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,751,238 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,975,066 (GRCm39)	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984 (GRCm39)	G493D	probably damaging	Het
Gm11596	C	T	11: 99,683,698 (GRCm39)	G141R	unknown	Het
Gpi-ps	T	G	8: 5,690,130 (GRCm39)		noncoding transcript	Het
H2-Q4	T	C	17: 35,599,417 (GRCm39)	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,382,490 (GRCm39)		probably null	Het
Kif2c	A	T	4: 117,032,066 (GRCm39)		probably benign	Het
Klrb1-ps1	C	T	6: 129,096,751 (GRCm39)		noncoding transcript	Het
Krtap9-5	A	T	11: 99,840,294 (GRCm39)	T332S	unknown	Het
Lrrc39	A	T	3: 116,373,189 (GRCm39)	E283V	probably benign	Het
Mdga1	A	G	17: 30,069,528 (GRCm39)	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,202,710 (GRCm39)	V425M	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Muc3a	T	A	5: 137,244,997 (GRCm39)	T159S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,642 (GRCm39)	I295F	probably damaging	Het
Or4a79	T	A	2: 89,551,745 (GRCm39)	T237S	probably damaging	Het
Or4f6	A	T	2: 111,838,937 (GRCm39)	M198K	probably damaging	Het
Pcdhga4	G	A	18: 37,818,648 (GRCm39)	V66I	probably benign	Het
Pdhx	T	C	2: 102,871,422 (GRCm39)	T203A	probably damaging	Het
Pdss1	A	G	2: 22,789,929 (GRCm39)		probably null	Het
Pdxk	G	T	10: 78,286,141 (GRCm39)	Q103K	probably benign	Het
Peg3	A	G	7: 6,711,419 (GRCm39)	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,187,093 (GRCm39)	S77T	probably damaging	Het
Poc1b	C	T	10: 98,943,703 (GRCm39)	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,060,001 (GRCm39)	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,680 (GRCm39)	F189S	probably damaging	Het
Rbks	T	A	5: 31,807,795 (GRCm39)	Y99*	probably null	Het
Sh3rf2	G	T	18: 42,186,989 (GRCm39)	C36F	probably damaging	Het
Spock3	T	A	8: 63,798,889 (GRCm39)	N303K	probably damaging	Het
Tasor2	C	T	13: 3,626,357 (GRCm39)	V1198I	probably benign	Het
Tcaf2	T	C	6: 42,606,401 (GRCm39)	T518A	probably benign	Het
Tmem163	A	T	1: 127,428,013 (GRCm39)	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,097,094 (GRCm39)	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,199,280 (GRCm39)		noncoding transcript	Het
Unc5d	C	T	8: 29,184,704 (GRCm39)	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,346 (GRCm39)	M31L	probably benign	Het
Vrtn	C	A	12: 84,696,248 (GRCm39)	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,298,008 (GRCm39)	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,602,421 (GRCm39)	R458H	probably damaging	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
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
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'- CAAGTCTAAGTCCCGATCAAGG -3'
(R):5'- CCTGTTATACAAAACTTCAGCTGC -3'

Sequencing Primer
(F):5'- CTAAGTCCCGATCAAGGTAGTATAC -3'
(R):5'- TGGAGCAGCATTTGGAAA -3'

Posted On

2016-06-21