Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Srrm1'

302368

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srrm1

Ensembl Gene

ENSMUSG00000028809

Gene Name

serine/arginine repetitive matrix 1

Synonyms

SRm160

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

135320484-135353321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135325104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 658 (P658L)

Ref Sequence

ENSEMBL: ENSMUSP00000125003 (fasta)

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: P658L

SMART Domains

Protein: ENSMUSP00000030613
Gene: ENSMUSG00000028809
AA Change: P658L

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: P653L

SMART Domains

Protein: ENSMUSP00000081906
Gene: ENSMUSG00000028809
AA Change: P653L

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: P644L

SMART Domains

Protein: ENSMUSP00000101487
Gene: ENSMUSG00000028809
AA Change: P644L

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: P658L

SMART Domains

Protein: ENSMUSP00000125003
Gene: ENSMUSG00000028809
AA Change: P658L

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

unknown
Transcript: ENSMUST00000140050
AA Change: P103L

SMART Domains

Protein: ENSMUSP00000120952
Gene: ENSMUSG00000028809
AA Change: P103L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162914

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	Het

Other mutations in Srrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:Srrm1	APN	4	135347207	splice site	probably null
IGL02070:Srrm1	APN	4	135325104	missense	unknown
IGL02073:Srrm1	APN	4	135325104	missense	unknown
IGL02193:Srrm1	APN	4	135325104	missense	unknown
IGL02232:Srrm1	APN	4	135353116	start codon destroyed	probably null	1.00
IGL02377:Srrm1	APN	4	135325104	missense	unknown
IGL02379:Srrm1	APN	4	135325104	missense	unknown
IGL02380:Srrm1	APN	4	135325104	missense	unknown
IGL02382:Srrm1	APN	4	135325104	missense	unknown
IGL02386:Srrm1	APN	4	135325104	missense	unknown
IGL02387:Srrm1	APN	4	135325104	missense	unknown
IGL02393:Srrm1	APN	4	135321414	unclassified	probably benign
IGL02436:Srrm1	APN	4	135325104	missense	unknown
IGL02438:Srrm1	APN	4	135325104	missense	unknown
IGL02439:Srrm1	APN	4	135325104	missense	unknown
IGL02440:Srrm1	APN	4	135325104	missense	unknown
IGL02500:Srrm1	APN	4	135325104	missense	unknown
IGL02561:Srrm1	APN	4	135325104	missense	unknown
IGL02562:Srrm1	APN	4	135325104	missense	unknown
IGL02566:Srrm1	APN	4	135325104	missense	unknown
IGL02567:Srrm1	APN	4	135325104	missense	unknown
IGL02568:Srrm1	APN	4	135325104	missense	unknown
IGL02569:Srrm1	APN	4	135325104	missense	unknown
IGL02570:Srrm1	APN	4	135325104	missense	unknown
IGL02572:Srrm1	APN	4	135325104	missense	unknown
IGL02583:Srrm1	APN	4	135325104	missense	unknown
IGL02584:Srrm1	APN	4	135325104	missense	unknown
IGL02585:Srrm1	APN	4	135325104	missense	unknown
IGL02586:Srrm1	APN	4	135325104	missense	unknown
IGL02587:Srrm1	APN	4	135325104	missense	unknown
IGL02588:Srrm1	APN	4	135325104	missense	unknown
IGL02589:Srrm1	APN	4	135325104	missense	unknown
IGL02596:Srrm1	APN	4	135325104	missense	unknown
IGL02597:Srrm1	APN	4	135325104	missense	unknown
IGL02601:Srrm1	APN	4	135325104	missense	unknown
IGL02602:Srrm1	APN	4	135325104	missense	unknown
IGL02609:Srrm1	APN	4	135325104	missense	unknown
IGL02614:Srrm1	APN	4	135325104	missense	unknown
IGL02631:Srrm1	APN	4	135325104	missense	unknown
IGL02632:Srrm1	APN	4	135325104	missense	unknown
IGL02658:Srrm1	APN	4	135325104	missense	unknown
IGL02659:Srrm1	APN	4	135325104	missense	unknown
IGL02660:Srrm1	APN	4	135325104	missense	unknown
IGL02677:Srrm1	APN	4	135325104	missense	unknown
IGL02683:Srrm1	APN	4	135325104	missense	unknown
IGL02686:Srrm1	APN	4	135325104	missense	unknown
IGL02690:Srrm1	APN	4	135325104	missense	unknown
IGL02713:Srrm1	APN	4	135325104	missense	unknown
IGL02723:Srrm1	APN	4	135325104	missense	unknown
IGL02724:Srrm1	APN	4	135325104	missense	unknown
IGL02725:Srrm1	APN	4	135325104	missense	unknown
IGL02730:Srrm1	APN	4	135325104	missense	unknown
IGL02731:Srrm1	APN	4	135325104	missense	unknown
IGL02732:Srrm1	APN	4	135325104	missense	unknown
IGL02733:Srrm1	APN	4	135325104	missense	unknown
IGL02734:Srrm1	APN	4	135325104	missense	unknown
IGL02743:Srrm1	APN	4	135325104	missense	unknown
IGL02744:Srrm1	APN	4	135325104	missense	unknown
IGL02752:Srrm1	APN	4	135325104	missense	unknown
Serious	UTSW	4	135340926	nonsense	probably null
R0131:Srrm1	UTSW	4	135340573	nonsense	probably null
R0131:Srrm1	UTSW	4	135340573	nonsense	probably null
R0132:Srrm1	UTSW	4	135340573	nonsense	probably null
R0510:Srrm1	UTSW	4	135338543	intron	probably benign
R0691:Srrm1	UTSW	4	135324991	nonsense	probably null
R1337:Srrm1	UTSW	4	135346733	critical splice donor site	probably null
R1397:Srrm1	UTSW	4	135321431	unclassified	probably benign
R2883:Srrm1	UTSW	4	135321411	unclassified	probably benign
R4043:Srrm1	UTSW	4	135340931	unclassified	probably benign
R4772:Srrm1	UTSW	4	135342379	unclassified	probably benign
R4837:Srrm1	UTSW	4	135345512	intron	probably benign
R4975:Srrm1	UTSW	4	135346720	splice site	probably benign
R5401:Srrm1	UTSW	4	135324069	splice site	probably benign
R6144:Srrm1	UTSW	4	135337873	unclassified	probably benign
R6542:Srrm1	UTSW	4	135340926	nonsense	probably null
R7147:Srrm1	UTSW	4	135346826	missense	probably damaging	0.98
R8054:Srrm1	UTSW	4	135325015	missense	unknown
R8371:Srrm1	UTSW	4	135325221	missense	unknown
R8523:Srrm1	UTSW	4	135324002	missense	unknown
R8767:Srrm1	UTSW	4	135332221	missense	unknown
Z1177:Srrm1	UTSW	4	135323998	missense	unknown
Z1177:Srrm1	UTSW	4	135331741	missense	unknown

Posted On

2015-04-16