Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Rsrp1'

348348

Institutional Source

Beutler Lab

Gene Symbol

Rsrp1

Ensembl Gene

ENSMUSG00000037266

Gene Name

arginine/serine rich protein 1

Synonyms

D4Ucla2, D4Wsu53e, 2700043I21Rik

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4670 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

134650936-134654681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134651488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 84 (Y84C)

Ref Sequence

ENSEMBL: ENSMUSP00000077226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078084]

AlphaFold

Q3UC65

Predicted Effect

unknown
Transcript: ENSMUST00000078084
AA Change: Y84C

SMART Domains

Protein: ENSMUSP00000077226
Gene: ENSMUSG00000037266
AA Change: Y84C

Domain	Start	End	E-Value	Type
Pfam:RSRP	6	298	5.9e-133	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154837

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,130,983 (GRCm39)		probably null	Het
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Galnt4	A	G	10: 98,945,160 (GRCm39)	D295G	possibly damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
Or8k37	T	C	2: 86,469,512 (GRCm39)	D180G	possibly damaging	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Pkp3	C	T	7: 140,662,612 (GRCm39)	P75S	probably benign	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vasp	T	C	7: 18,998,350 (GRCm39)	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zbtb4	T	A	11: 69,667,355 (GRCm39)	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp729a	T	A	13: 67,769,534 (GRCm39)	K232*	probably null	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	probably null	Het

Other mutations in Rsrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Rsrp1	APN	4	134,651,290 (GRCm39)	missense	unknown
IGL03065:Rsrp1	APN	4	134,651,700 (GRCm39)	missense	possibly damaging	0.95
R0735:Rsrp1	UTSW	4	134,651,568 (GRCm39)	missense	unknown
R1863:Rsrp1	UTSW	4	134,651,388 (GRCm39)	missense	unknown
R5705:Rsrp1	UTSW	4	134,651,331 (GRCm39)	missense	unknown
R6020:Rsrp1	UTSW	4	134,651,692 (GRCm39)	missense	probably damaging	0.97
R6195:Rsrp1	UTSW	4	134,654,113 (GRCm39)	missense	probably damaging	1.00
R6233:Rsrp1	UTSW	4	134,654,113 (GRCm39)	missense	probably damaging	1.00
R7896:Rsrp1	UTSW	4	134,651,274 (GRCm39)	missense	unknown
R8143:Rsrp1	UTSW	4	134,654,319 (GRCm39)	missense	probably benign	0.13
R8695:Rsrp1	UTSW	4	134,652,610 (GRCm39)	missense	probably damaging	0.99
RF013:Rsrp1	UTSW	4	134,651,266 (GRCm39)	missense	unknown
X0021:Rsrp1	UTSW	4	134,654,070 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ATACGTGAACGACATGTGGCC -3'
(R):5'- AGTGATCGCGTAGTACGACC -3'

Sequencing Primer
(F):5'- AGAAAGCCTCGCCGTCC -3'
(R):5'- TAGTACGACCACCGGTGCTG -3'

Posted On

2015-10-08