Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02731:Srrm1'

305442

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 #

IGL02731

Quality Score

Status

Chromosome

Chromosomal Location

135047795-135080632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135052415 bp (GRCm39)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	T	11: 61,784,302 (GRCm39)	D515E	possibly damaging	Het
Ankrd13b	A	T	11: 77,367,045 (GRCm39)	S9R	probably damaging	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep78	T	A	19: 15,933,670 (GRCm39)	H636L	probably benign	Het
Chd2	A	G	7: 73,143,204 (GRCm39)	V563A	probably damaging	Het
Cndp1	G	T	18: 84,650,083 (GRCm39)	D203E	probably damaging	Het
Col16a1	G	A	4: 129,947,323 (GRCm39)		probably benign	Het
Copa	T	C	1: 171,929,785 (GRCm39)	V284A	possibly damaging	Het
Dlec1	A	G	9: 118,976,188 (GRCm39)	T1656A	probably benign	Het
Dop1a	T	C	9: 86,369,434 (GRCm39)	I89T	probably damaging	Het
Eif2ak4	T	C	2: 118,219,295 (GRCm39)	S36P	probably benign	Het
Ep300	A	T	15: 81,532,615 (GRCm39)	I1618F	unknown	Het
Fan1	G	A	7: 64,022,741 (GRCm39)	L171F	possibly damaging	Het
Fancm	A	G	12: 65,135,079 (GRCm39)	T291A	probably benign	Het
Gm14325	T	C	2: 177,474,779 (GRCm39)	K101R	probably damaging	Het
Hmx3	A	T	7: 131,145,692 (GRCm39)		probably null	Het
Htt	G	T	5: 34,961,137 (GRCm39)	V255L	probably benign	Het
L3mbtl3	C	T	10: 26,220,074 (GRCm39)		probably null	Het
Lmbr1l	A	G	15: 98,815,777 (GRCm39)	L9P	probably damaging	Het
Lyzl6	A	T	11: 103,525,903 (GRCm39)	Y72*	probably null	Het
Mib1	A	G	18: 10,800,115 (GRCm39)	E818G	possibly damaging	Het
Neb	T	C	2: 52,050,715 (GRCm39)	T6405A	probably damaging	Het
Npas3	A	G	12: 54,114,578 (GRCm39)	D482G	probably benign	Het
Nuak2	C	A	1: 132,244,095 (GRCm39)	A43E	probably damaging	Het
Or10ag2	G	A	2: 87,249,051 (GRCm39)	V220I	probably benign	Het
Or4a70	T	C	2: 89,323,801 (GRCm39)	Y285C	probably damaging	Het
Or4f4b	A	T	2: 111,313,873 (GRCm39)	I33L	probably benign	Het
Or5an1	T	C	19: 12,261,206 (GRCm39)	S265P	probably damaging	Het
Pde11a	C	A	2: 75,821,583 (GRCm39)	A899S	probably benign	Het
Ppfibp2	A	T	7: 107,345,629 (GRCm39)	I884F	possibly damaging	Het
Pus7l	A	G	15: 94,421,345 (GRCm39)	V655A	probably benign	Het
Rad51ap2	A	G	12: 11,506,897 (GRCm39)	D273G	probably damaging	Het
Rc3h2	T	C	2: 37,272,823 (GRCm39)	D751G	probably benign	Het
Sdk1	C	T	5: 142,158,299 (GRCm39)	A1863V	probably damaging	Het
Spns3	T	C	11: 72,420,403 (GRCm39)	Y361C	probably damaging	Het
Srp72	T	A	5: 77,142,062 (GRCm39)	I372N	probably damaging	Het
Tcf20	A	G	15: 82,737,438 (GRCm39)	S1338P	probably benign	Het
Tcte1	G	A	17: 45,850,812 (GRCm39)	V363I	probably benign	Het
Vmn1r42	T	C	6: 89,822,407 (GRCm39)	K54R	probably benign	Het
Vps13b	A	G	15: 35,917,274 (GRCm39)	N3706S	probably benign	Het
Vwde	T	C	6: 13,192,613 (GRCm39)	Y430C	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Zfp959	G	A	17: 56,202,956 (GRCm39)		probably benign	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
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
R5401:Srrm1	UTSW	4	135,051,380 (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

Posted On

2015-04-16