Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Srrm1'

298852

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02567

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	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
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
IGL02657: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