Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Rsrc1'

485292

Institutional Source

Beutler Lab

Gene Symbol

Rsrc1

Ensembl Gene

ENSMUSG00000034544

Gene Name

arginine/serine-rich coiled-coil 1

Synonyms

1200013F24Rik, SRrp53

MMRRC Submission

044252-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66981390-67358396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66994649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 44 (P44L)

Ref Sequence

ENSEMBL: ENSMUSP00000125547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046542] [ENSMUST00000065047] [ENSMUST00000065074] [ENSMUST00000160504] [ENSMUST00000161726] [ENSMUST00000162036] [ENSMUST00000162362] [ENSMUST00000162693]

AlphaFold

Q9DBU6

Predicted Effect

unknown
Transcript: ENSMUST00000046542
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	116	N/A	INTRINSIC
coiled coil region	138	191	N/A	INTRINSIC
low complexity region	223	236	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000065047
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	109	N/A	INTRINSIC
coiled coil region	122	175	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000065074
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000160504
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000124925
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	59	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161726
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162036
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162362
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000123699
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162620

Predicted Effect

unknown
Transcript: ENSMUST00000162693
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	88	N/A	INTRINSIC
low complexity region	96	157	N/A	INTRINSIC
coiled coil region	178	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182708

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572		probably null	Het
Ccr4	C	T	9: 114,496,493		probably null	Het
Clasrp	G	A	7: 19,586,468		probably benign	Het
Cldn23	A	G	8: 35,825,551	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131		probably null	Het
Mmp13	A	G	9: 7,276,688	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507		probably benign	Het
Olfr152	T	C	2: 87,782,848	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022		probably benign	Het
Psme4	T	A	11: 30,865,567	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Serpina3b	A	T	12: 104,134,169	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208	*416Q	probably null	Het
Strada	A	G	11: 106,168,436	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350		probably null	Het
Tubb2a	T	C	13: 34,075,343	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138		probably null	Het
Zfp273	A	G	13: 67,822,347	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653	L248P	probably damaging	Het

Other mutations in Rsrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Rsrc1	APN	3	67082600	intron	probably benign
IGL03180:Rsrc1	APN	3	67082543	intron	probably benign
R0200:Rsrc1	UTSW	3	67180861	missense	probably damaging	0.99
R0463:Rsrc1	UTSW	3	67180861	missense	probably damaging	0.99
R1175:Rsrc1	UTSW	3	67356218	splice site	probably benign
R1293:Rsrc1	UTSW	3	67356279	missense	probably damaging	1.00
R1677:Rsrc1	UTSW	3	67355475	missense	probably damaging	0.97
R1981:Rsrc1	UTSW	3	67350005	missense	probably benign	0.18
R2039:Rsrc1	UTSW	3	66994618	missense	unknown
R4222:Rsrc1	UTSW	3	66994567	missense	unknown
R4624:Rsrc1	UTSW	3	67349978	missense	probably damaging	1.00
R4852:Rsrc1	UTSW	3	67355602	missense	probably damaging	1.00
R6103:Rsrc1	UTSW	3	66994649	missense	unknown
R6104:Rsrc1	UTSW	3	66994649	missense	unknown
R6127:Rsrc1	UTSW	3	66994649	missense	unknown
R6129:Rsrc1	UTSW	3	66994649	missense	unknown
R6153:Rsrc1	UTSW	3	67355562	missense	probably benign	0.33
R6409:Rsrc1	UTSW	3	66994649	missense	unknown
R6410:Rsrc1	UTSW	3	66994649	missense	unknown
R6411:Rsrc1	UTSW	3	66994649	missense	unknown
R6412:Rsrc1	UTSW	3	66994649	missense	unknown
R6422:Rsrc1	UTSW	3	66994649	missense	unknown
R6424:Rsrc1	UTSW	3	66994649	missense	unknown
R6442:Rsrc1	UTSW	3	66994649	missense	unknown
R6487:Rsrc1	UTSW	3	66994649	missense	unknown
R6899:Rsrc1	UTSW	3	66994649	missense	unknown
R6910:Rsrc1	UTSW	3	66994649	missense	unknown
R6911:Rsrc1	UTSW	3	66994649	missense	unknown
R6912:Rsrc1	UTSW	3	66994649	missense	unknown
R6916:Rsrc1	UTSW	3	66994649	missense	unknown
R6917:Rsrc1	UTSW	3	66994649	missense	unknown
R6930:Rsrc1	UTSW	3	66994649	missense	unknown
R6931:Rsrc1	UTSW	3	66994649	missense	unknown
R6994:Rsrc1	UTSW	3	66994649	missense	unknown
R6995:Rsrc1	UTSW	3	66994649	missense	unknown
R6997:Rsrc1	UTSW	3	66994649	missense	unknown
R7010:Rsrc1	UTSW	3	66994649	missense	unknown
R7015:Rsrc1	UTSW	3	66994649	missense	unknown
R7048:Rsrc1	UTSW	3	67180831	missense	probably damaging	0.99
R7078:Rsrc1	UTSW	3	66994654	missense	unknown
R9301:Rsrc1	UTSW	3	67290347	missense	probably damaging	1.00
Z1176:Rsrc1	UTSW	3	67349982	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCCAAGCACATGTTAGTTT -3'
(R):5'- GCTTTTGGGAGAAAGGTTGC -3'

Posted On

2017-08-16