Mutagenetix > Incidental Mutation

Incidental Mutation 'R8049:Wrnip1'

618957

Institutional Source

Beutler Lab

Gene Symbol

Wrnip1

Ensembl Gene

ENSMUSG00000021400

Gene Name

Werner helicase interacting protein 1

Synonyms

4833444L21Rik, WHIP

MMRRC Submission

067486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32986021-33006592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33005960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 601 (S601G)

Ref Sequence

ENSEMBL: ENSMUSP00000021832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021832]

AlphaFold

Q91XU0

Predicted Effect

probably benign
Transcript: ENSMUST00000021832
AA Change: S601G

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

SMART Domains

Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: S601G

Domain	Start	End	E-Value	Type
ZnF_Rad18	17	40	4.76e-10	SMART
low complexity region	90	110	N/A	INTRINSIC
low complexity region	135	156	N/A	INTRINSIC
low complexity region	158	183	N/A	INTRINSIC
AAA	255	375	9.86e-16	SMART
Pfam:AAA_assoc_2	413	506	6.4e-26	PFAM
Pfam:MgsA_C	507	659	3.9e-61	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Ddx55	T	C	5: 124,694,821 (GRCm39)	V83A	probably damaging	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Efna5	G	T	17: 62,957,977 (GRCm39)	T93K	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Ifit3	A	T	19: 34,565,480 (GRCm39)	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942 (GRCm39)	M92L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217 (GRCm39)	M334K	probably benign	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Setd6	C	A	8: 96,443,316 (GRCm39)	S186R	probably benign	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Zfp1006	A	T	8: 129,946,555 (GRCm39)	L90H	probably damaging	Het

Other mutations in Wrnip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Wrnip1	APN	13	33,000,312 (GRCm39)	missense	probably damaging	1.00
IGL02608:Wrnip1	APN	13	32,990,857 (GRCm39)	missense	probably damaging	1.00
IGL02947:Wrnip1	APN	13	33,006,053 (GRCm39)	missense	probably damaging	1.00
R0028:Wrnip1	UTSW	13	33,004,280 (GRCm39)	missense	probably damaging	1.00
R0131:Wrnip1	UTSW	13	32,990,847 (GRCm39)	missense	probably damaging	0.98
R0212:Wrnip1	UTSW	13	33,005,889 (GRCm39)	missense	probably benign	0.45
R0545:Wrnip1	UTSW	13	32,990,796 (GRCm39)	missense	probably damaging	1.00
R0638:Wrnip1	UTSW	13	33,005,073 (GRCm39)	missense	possibly damaging	0.82
R1650:Wrnip1	UTSW	13	32,989,362 (GRCm39)	missense	probably benign	0.02
R1894:Wrnip1	UTSW	13	32,989,319 (GRCm39)	critical splice acceptor site	probably null
R2176:Wrnip1	UTSW	13	33,004,223 (GRCm39)	missense	probably damaging	1.00
R2371:Wrnip1	UTSW	13	32,986,410 (GRCm39)	missense	probably benign
R2475:Wrnip1	UTSW	13	32,990,941 (GRCm39)	missense	probably benign	0.30
R3122:Wrnip1	UTSW	13	32,986,744 (GRCm39)	missense	probably benign	0.06
R4247:Wrnip1	UTSW	13	32,990,866 (GRCm39)	missense	probably damaging	1.00
R4604:Wrnip1	UTSW	13	32,986,330 (GRCm39)	missense	probably damaging	1.00
R4978:Wrnip1	UTSW	13	33,000,295 (GRCm39)	missense	probably damaging	1.00
R5109:Wrnip1	UTSW	13	33,000,319 (GRCm39)	missense	probably damaging	1.00
R5148:Wrnip1	UTSW	13	32,990,839 (GRCm39)	missense	probably damaging	1.00
R5929:Wrnip1	UTSW	13	32,990,949 (GRCm39)	missense	probably damaging	1.00
R6750:Wrnip1	UTSW	13	32,986,739 (GRCm39)	missense	probably damaging	0.99
R7137:Wrnip1	UTSW	13	32,986,732 (GRCm39)	missense	probably benign	0.01
R7142:Wrnip1	UTSW	13	32,986,616 (GRCm39)	missense	possibly damaging	0.51
R7378:Wrnip1	UTSW	13	33,000,264 (GRCm39)	missense	probably benign	0.33
R7468:Wrnip1	UTSW	13	33,000,360 (GRCm39)	missense	possibly damaging	0.80
R7470:Wrnip1	UTSW	13	33,000,310 (GRCm39)	nonsense	probably null
R8260:Wrnip1	UTSW	13	32,989,339 (GRCm39)	missense	possibly damaging	0.80
R9000:Wrnip1	UTSW	13	32,986,711 (GRCm39)	missense	probably damaging	0.99
X0019:Wrnip1	UTSW	13	32,990,749 (GRCm39)	missense	probably damaging	1.00
X0027:Wrnip1	UTSW	13	32,986,707 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTAGGAGGAATCATAAAGTGCTC -3'
(R):5'- GTGACTTTTGGCCTTCCTCAAG -3'

Sequencing Primer
(F):5'- GGAATCATAAAGTGCTCTGCCAAAC -3'
(R):5'- TTGGCCTTCCTCAAGATACAAG -3'

Posted On

2020-01-23