Mutagenetix > Incidental Mutations

Incidental Mutation 'R6410:Rsrc1'

514571

Institutional Source

Beutler Lab

Gene Symbol

Rsrc1

Ensembl Gene

ENSMUSG00000034544

Gene Name

arginine/serine-rich coiled-coil 1

Synonyms

1200013F24Rik, SRrp53

MMRRC Submission

044383-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R6410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66981390-67358396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66994649 bp

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]

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	C	T	4: 133,062,899	R484W	probably damaging	Het
Arhgap24	T	A	5: 102,892,151	I411N	probably benign	Het
Armt1	A	G	10: 4,453,826	S304G	probably benign	Het
Atg9b	T	A	5: 24,386,110	N774I	possibly damaging	Het
C1s1	C	T	6: 124,531,158	C624Y	probably damaging	Het
Camsap2	C	A	1: 136,345,444		probably benign	Het
Cd109	T	C	9: 78,657,516	S248P	probably benign	Het
Cd28	A	T	1: 60,765,283	H140L	probably benign	Het
Csmd3	G	A	15: 48,673,407	T133I	probably damaging	Het
D430041D05Rik	A	T	2: 104,168,203		probably null	Het
Defb47	T	C	14: 63,000,993	V56A	probably benign	Het
Fxyd5	T	C	7: 31,035,406	E132G	probably damaging	Het
H2-M2	A	G	17: 37,483,213	V40A	probably damaging	Het
H2-Q7	T	C	17: 35,440,176	L201P	probably benign	Het
Klra9	T	G	6: 130,178,994	D266A	probably damaging	Het
Meioc	A	G	11: 102,675,034	N492S	probably benign	Het
Mgea5	T	C	19: 45,776,045		probably null	Het
Nmt2	A	G	2: 3,316,178	E341G	probably damaging	Het
Nutm1	A	C	2: 112,248,729	V947G	possibly damaging	Het
Olfr873	T	A	9: 20,300,452	I84N	probably damaging	Het
Pm20d1	G	A	1: 131,798,596	G57D	probably benign	Het
Pnpla5	A	G	15: 84,120,679	I157T	probably damaging	Het
Sv2b	A	T	7: 75,140,109	I392N	probably benign	Het
Wfdc8	T	A	2: 164,597,743	I240F	probably benign	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
R6102:Rsrc1	UTSW	3	66994649	missense	unknown
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCCAAGCACATGTTAGTTT -3'
(R):5'- TGCTTTTGGGAGAAAGGTTGCA -3'

Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TTTTGGGAGAAAGGTTGCAAAGGTAG -3'

Posted On

2018-05-04