Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Zrsr1'

188869

Institutional Source

Beutler Lab

Gene Symbol

Zrsr1

Ensembl Gene

ENSMUSG00000044068

Gene Name

zinc finger (CCCH type), RNA binding motif and serine/arginine rich 1

Synonyms

35kDa, U2afbp-rs, SP2, Irlgs2, U2af1-rs1, D11Ncvs75

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22972005-22976496 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22974158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 311 (C311S)

Ref Sequence

ENSEMBL: ENSMUSP00000062025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049506] [ENSMUST00000057843] [ENSMUST00000071068] [ENSMUST00000159081] [ENSMUST00000160826]

AlphaFold

Q64707

Predicted Effect

probably damaging
Transcript: ENSMUST00000049506
AA Change: C311S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062025
Gene: ENSMUSG00000044068
AA Change: C311S

Domain	Start	End	E-Value	Type
low complexity region	14	39	N/A	INTRINSIC
coiled coil region	52	144	N/A	INTRINSIC
ZnF_C3H1	158	184	1.69e-3	SMART
RRM	190	291	1.44e-2	SMART
ZnF_C3H1	297	323	1.2e-3	SMART
low complexity region	364	389	N/A	INTRINSIC
low complexity region	403	418	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000057843

SMART Domains

Protein: ENSMUSP00000053606
Gene: ENSMUSG00000051355

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:HCaRG	44	238	1.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071068

SMART Domains

Protein: ENSMUSP00000065079
Gene: ENSMUSG00000051355

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:HCaRG	57	89	2.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093270

SMART Domains

Protein: ENSMUSP00000090958
Gene: ENSMUSG00000051355

Domain	Start	End	E-Value	Type
Pfam:HCaRG	3	137	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159081

SMART Domains

Protein: ENSMUSP00000124719
Gene: ENSMUSG00000051355

Domain	Start	End	E-Value	Type
Pfam:HCaRG	12	184	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160826

SMART Domains

Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650

Domain	Start	End	E-Value	Type
Pfam:HCaRG	1	99	1.3e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230879

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Heterozygotes for a targeted null mutation of this imprinted gene are viable and fertile regardless of the parental origin of the mutated allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951 (GRCm38)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287 (GRCm38)	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521 (GRCm38)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,763,443 (GRCm38)	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
March3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Olfr1507	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Olfr299	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Olfr683	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak7	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678 (GRCm38)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,614,889 (GRCm38)	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527 (GRCm38)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het

Other mutations in Zrsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Zrsr1	APN	11	22,974,190 (GRCm38)	missense	probably damaging	1.00
R1474:Zrsr1	UTSW	11	22,974,404 (GRCm38)	missense	probably benign
R1766:Zrsr1	UTSW	11	22,973,637 (GRCm38)	missense	probably benign	0.00
R4884:Zrsr1	UTSW	11	22,973,805 (GRCm38)	missense	possibly damaging	0.68
R7223:Zrsr1	UTSW	11	22,973,388 (GRCm38)	missense	probably benign	0.00
R7417:Zrsr1	UTSW	11	22,974,662 (GRCm38)	splice site	probably null
R7431:Zrsr1	UTSW	11	22,973,580 (GRCm38)	missense	probably benign	0.44
R7736:Zrsr1	UTSW	11	22,973,510 (GRCm38)	nonsense	probably null
R7751:Zrsr1	UTSW	11	22,973,595 (GRCm38)	missense	possibly damaging	0.72
R8762:Zrsr1	UTSW	11	22,973,694 (GRCm38)	missense	probably benign	0.02
R9621:Zrsr1	UTSW	11	22,973,418 (GRCm38)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AAGTAAGCTGCAACCTGGAACCTC -3'
(R):5'- ATGAACTCCCTTGCCAAGCCTG -3'

Sequencing Primer
(F):5'- TGCAACCTGGAACCTCATCTG -3'
(R):5'- AACCAGAGTGGTAGCTTCTTGAC -3'

Posted On

2014-05-09