Mutagenetix > Incidental Mutation

Incidental Mutation 'R5401:Srrm1'

429975

Institutional Source

Beutler Lab

Gene Symbol

Srrm1

Ensembl Gene

ENSMUSG00000028809

Gene Name

serine/arginine repetitive matrix 1

Synonyms

SRm160

MMRRC Submission

042972-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135047795-135080632 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 135051380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030613] [ENSMUST00000084846] [ENSMUST00000105861] [ENSMUST00000136342]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000030613
AA Change: S767P

SMART Domains

Protein: ENSMUSP00000030613
Gene: ENSMUSG00000028809
AA Change: S767P

Domain	Start	End	E-Value	Type
low complexity region	20	29	N/A	INTRINSIC
PWI	40	115	2.25e-42	SMART
low complexity region	124	141	N/A	INTRINSIC
low complexity region	148	227	N/A	INTRINSIC
low complexity region	248	407	N/A	INTRINSIC
internal_repeat_2	409	455	4.31e-5	PROSPERO
internal_repeat_1	427	456	3.46e-6	PROSPERO
low complexity region	476	500	N/A	INTRINSIC
low complexity region	517	534	N/A	INTRINSIC
low complexity region	555	661	N/A	INTRINSIC
internal_repeat_1	666	700	3.46e-6	PROSPERO
internal_repeat_3	670	693	4.31e-5	PROSPERO
internal_repeat_4	684	698	4.31e-5	PROSPERO
internal_repeat_2	689	734	4.31e-5	PROSPERO
internal_repeat_3	719	740	4.31e-5	PROSPERO
internal_repeat_5	730	740	8.09e-5	PROSPERO
low complexity region	746	795	N/A	INTRINSIC
internal_repeat_4	799	813	4.31e-5	PROSPERO
internal_repeat_5	808	818	8.09e-5	PROSPERO
low complexity region	827	851	N/A	INTRINSIC
low complexity region	854	886	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000084846
AA Change: S762P

SMART Domains

Protein: ENSMUSP00000081906
Gene: ENSMUSG00000028809
AA Change: S762P

Domain	Start	End	E-Value	Type
low complexity region	20	29	N/A	INTRINSIC
PWI	40	115	2.25e-42	SMART
low complexity region	124	141	N/A	INTRINSIC
low complexity region	148	227	N/A	INTRINSIC
low complexity region	248	402	N/A	INTRINSIC
internal_repeat_2	404	450	3.57e-5	PROSPERO
internal_repeat_1	422	451	2.79e-6	PROSPERO
low complexity region	471	495	N/A	INTRINSIC
low complexity region	512	529	N/A	INTRINSIC
low complexity region	550	656	N/A	INTRINSIC
internal_repeat_1	661	695	2.79e-6	PROSPERO
internal_repeat_3	665	688	3.57e-5	PROSPERO
internal_repeat_4	679	693	3.57e-5	PROSPERO
internal_repeat_2	684	729	3.57e-5	PROSPERO
internal_repeat_3	714	735	3.57e-5	PROSPERO
internal_repeat_5	725	735	6.75e-5	PROSPERO
low complexity region	741	790	N/A	INTRINSIC
internal_repeat_4	794	808	3.57e-5	PROSPERO
internal_repeat_5	803	813	6.75e-5	PROSPERO
low complexity region	822	846	N/A	INTRINSIC
low complexity region	849	886	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000105861
AA Change: S753P

SMART Domains

Protein: ENSMUSP00000101487
Gene: ENSMUSG00000028809
AA Change: S753P

Domain	Start	End	E-Value	Type
low complexity region	20	29	N/A	INTRINSIC
PWI	40	115	2.25e-42	SMART
low complexity region	124	141	N/A	INTRINSIC
low complexity region	148	227	N/A	INTRINSIC
low complexity region	248	407	N/A	INTRINSIC
internal_repeat_2	409	455	1.99e-5	PROSPERO
internal_repeat_1	427	456	1.45e-6	PROSPERO
low complexity region	476	500	N/A	INTRINSIC
low complexity region	517	534	N/A	INTRINSIC
low complexity region	539	647	N/A	INTRINSIC
internal_repeat_1	652	686	1.45e-6	PROSPERO
internal_repeat_3	656	679	1.99e-5	PROSPERO
internal_repeat_4	670	684	1.99e-5	PROSPERO
internal_repeat_2	675	720	1.99e-5	PROSPERO
internal_repeat_3	705	726	1.99e-5	PROSPERO
internal_repeat_5	716	726	3.82e-5	PROSPERO
low complexity region	732	781	N/A	INTRINSIC
internal_repeat_4	785	799	1.99e-5	PROSPERO
internal_repeat_5	794	804	3.82e-5	PROSPERO
low complexity region	813	837	N/A	INTRINSIC
low complexity region	840	877	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000136342
AA Change: S767P

SMART Domains

Protein: ENSMUSP00000125003
Gene: ENSMUSG00000028809
AA Change: S767P

Domain	Start	End	E-Value	Type
low complexity region	20	29	N/A	INTRINSIC
PWI	40	115	2.25e-42	SMART
low complexity region	124	141	N/A	INTRINSIC
low complexity region	148	227	N/A	INTRINSIC
low complexity region	248	407	N/A	INTRINSIC
internal_repeat_2	409	455	3.36e-5	PROSPERO
internal_repeat_1	427	456	2.61e-6	PROSPERO
low complexity region	476	500	N/A	INTRINSIC
low complexity region	517	534	N/A	INTRINSIC
low complexity region	555	661	N/A	INTRINSIC
internal_repeat_1	666	700	2.61e-6	PROSPERO
internal_repeat_3	670	693	3.36e-5	PROSPERO
internal_repeat_4	684	698	3.36e-5	PROSPERO
internal_repeat_2	689	734	3.36e-5	PROSPERO
internal_repeat_3	719	740	3.36e-5	PROSPERO
internal_repeat_5	730	740	6.37e-5	PROSPERO
low complexity region	746	795	N/A	INTRINSIC
internal_repeat_4	799	813	3.36e-5	PROSPERO
internal_repeat_5	808	818	6.37e-5	PROSPERO
low complexity region	827	851	N/A	INTRINSIC
low complexity region	854	891	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136570

Predicted Effect

probably benign
Transcript: ENSMUST00000140050

SMART Domains

Protein: ENSMUSP00000120952
Gene: ENSMUSG00000028809

Domain	Start	End	E-Value	Type
low complexity region	2	107	N/A	INTRINSIC
internal_repeat_1	116	145	9.96e-7	PROSPERO
internal_repeat_1	165	196	9.96e-7	PROSPERO
low complexity region	202	225	N/A	INTRINSIC
low complexity region	257	281	N/A	INTRINSIC
low complexity region	284	316	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150619

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	G	9: 39,962,338 (GRCm39)		noncoding transcript	Het
1700025H01Rik	G	T	16: 30,018,801 (GRCm39)		noncoding transcript	Het
9330159F19Rik	T	C	10: 29,101,136 (GRCm39)	V503A	probably benign	Het
Acacb	A	G	5: 114,347,914 (GRCm39)	N995S	possibly damaging	Het
Anapc4	A	G	5: 53,020,991 (GRCm39)	K630R	probably benign	Het
Ankrd13a	A	C	5: 114,930,234 (GRCm39)	Q206H	probably damaging	Het
Ano10	A	T	9: 122,090,356 (GRCm39)	L319Q	probably damaging	Het
Camkk2	T	A	5: 122,884,398 (GRCm39)	D341V	probably damaging	Het
Ccdc88a	A	G	11: 29,413,279 (GRCm39)	I606V	probably benign	Het
Cdv3	G	T	9: 103,242,316 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,745,315 (GRCm39)	V155A	probably benign	Het
Cmya5	T	C	13: 93,228,476 (GRCm39)	E2204G	probably damaging	Het
Cracr2b	A	G	7: 141,046,136 (GRCm39)	*395W	probably null	Het
Defa27	A	G	8: 21,805,710 (GRCm39)	E50G	possibly damaging	Het
Dnah7a	A	G	1: 53,670,812 (GRCm39)	I480T	probably benign	Het
Ep400	C	A	5: 110,831,037 (GRCm39)	D2210Y	unknown	Het
Fam170a	T	A	18: 50,413,618 (GRCm39)	S28T	probably benign	Het
Fancc	C	A	13: 63,550,767 (GRCm39)	K18N	probably damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Fndc8	T	G	11: 82,788,676 (GRCm39)	S169A	possibly damaging	Het
Get3	A	T	8: 85,745,173 (GRCm39)	I298N	possibly damaging	Het
Herc1	T	C	9: 66,409,338 (GRCm39)	Y4688H	probably damaging	Het
Ighv11-2	A	T	12: 114,011,959 (GRCm39)	D85E	possibly damaging	Het
Kat14	T	C	2: 144,231,180 (GRCm39)	F196L	possibly damaging	Het
Kctd19	C	T	8: 106,109,617 (GRCm39)	V942I	probably benign	Het
Llgl1	A	G	11: 60,597,297 (GRCm39)	S249G	probably benign	Het
Map1a	T	C	2: 121,130,153 (GRCm39)	V323A	probably damaging	Het
Or4m1	C	A	14: 50,557,566 (GRCm39)	C242F	probably damaging	Het
Phf21a	C	A	2: 92,182,097 (GRCm39)	T342K	possibly damaging	Het
Piezo2	T	A	18: 63,217,811 (GRCm39)	D1122V	possibly damaging	Het
Pklr	A	G	3: 89,049,173 (GRCm39)	Y173C	probably damaging	Het
Plcz1	G	T	6: 139,938,778 (GRCm39)		probably null	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prom1	A	T	5: 44,158,147 (GRCm39)	Y845N	probably damaging	Het
Qng1	C	A	13: 58,530,405 (GRCm39)	A202S	probably benign	Het
Ret	A	T	6: 118,158,936 (GRCm39)	S159T	probably benign	Het
Rfx1	C	A	8: 84,793,005 (GRCm39)		probably null	Het
Scp2	A	T	4: 108,001,976 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Smarcc2	C	A	10: 128,301,373 (GRCm39)	D210E	probably damaging	Het
Sptlc3	T	C	2: 139,478,643 (GRCm39)	L534P	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Sugct	T	A	13: 17,032,455 (GRCm39)	Q432H	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tsc1	C	A	2: 28,576,920 (GRCm39)	S1073*	probably null	Het
Vmn1r72	T	C	7: 11,403,843 (GRCm39)	S202G	probably damaging	Het
Vmn2r55	A	G	7: 12,385,871 (GRCm39)	V703A	probably benign	Het
Vmn2r67	A	T	7: 84,785,765 (GRCm39)	Y747N	probably damaging	Het
Zcchc4	A	G	5: 52,964,419 (GRCm39)	I292V	probably benign	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het
Zswim2	C	T	2: 83,755,589 (GRCm39)	G104E	possibly damaging	Het

Other mutations in Srrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:Srrm1	APN	4	135,074,518 (GRCm39)	splice site	probably null
IGL02070:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02073:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02193:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02232:Srrm1	APN	4	135,080,427 (GRCm39)	start codon destroyed	probably null	1.00
IGL02377:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02379:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02380:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02382:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02386:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02387:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02393:Srrm1	APN	4	135,048,725 (GRCm39)	unclassified	probably benign
IGL02436:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02438:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02439:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02440:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02500:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02561:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02562:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02566:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02567:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02568:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02569:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02570:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02572:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02583:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02584:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02585:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02586:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02587:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02588:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02589:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02596:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02597:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02601:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02602:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02609:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02614:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02631:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02632:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02657:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02658:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02659:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02660:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02677:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02683:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02686:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02690:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02713:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02723:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02724:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02725:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02730:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02731:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02732:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02733:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02734:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02743:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02744:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
IGL02752:Srrm1	APN	4	135,052,415 (GRCm39)	missense	unknown
Serious	UTSW	4	135,068,237 (GRCm39)	nonsense	probably null
R0131:Srrm1	UTSW	4	135,067,884 (GRCm39)	nonsense	probably null
R0131:Srrm1	UTSW	4	135,067,884 (GRCm39)	nonsense	probably null
R0132:Srrm1	UTSW	4	135,067,884 (GRCm39)	nonsense	probably null
R0510:Srrm1	UTSW	4	135,065,854 (GRCm39)	intron	probably benign
R0691:Srrm1	UTSW	4	135,052,302 (GRCm39)	nonsense	probably null
R1337:Srrm1	UTSW	4	135,074,044 (GRCm39)	critical splice donor site	probably null
R1397:Srrm1	UTSW	4	135,048,742 (GRCm39)	unclassified	probably benign
R2883:Srrm1	UTSW	4	135,048,722 (GRCm39)	unclassified	probably benign
R4043:Srrm1	UTSW	4	135,068,242 (GRCm39)	unclassified	probably benign
R4772:Srrm1	UTSW	4	135,069,690 (GRCm39)	unclassified	probably benign
R4837:Srrm1	UTSW	4	135,072,823 (GRCm39)	intron	probably benign
R4975:Srrm1	UTSW	4	135,074,031 (GRCm39)	splice site	probably benign
R6144:Srrm1	UTSW	4	135,065,184 (GRCm39)	unclassified	probably benign
R6542:Srrm1	UTSW	4	135,068,237 (GRCm39)	nonsense	probably null
R7147:Srrm1	UTSW	4	135,074,137 (GRCm39)	missense	probably damaging	0.98
R8054:Srrm1	UTSW	4	135,052,326 (GRCm39)	missense	unknown
R8371:Srrm1	UTSW	4	135,052,532 (GRCm39)	missense	unknown
R8523:Srrm1	UTSW	4	135,051,313 (GRCm39)	missense	unknown
R8767:Srrm1	UTSW	4	135,059,532 (GRCm39)	missense	unknown
Z1177:Srrm1	UTSW	4	135,059,052 (GRCm39)	missense	unknown
Z1177:Srrm1	UTSW	4	135,051,309 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGAATTGTTAAGTACTGTCCCC -3'
(R):5'- ATGACCCGTCAGGAAAGTGG -3'

Sequencing Primer
(F):5'- ATGTCCAAAACCAGGTAGGC -3'
(R):5'- GCAGAATTGTAGGGAATGTGTGACC -3'

Posted On

2016-09-06