Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02743:Srrm1'

305961

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 #

IGL02743

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	A	C	5: 88,612,343 (GRCm39)	D188A	probably damaging	Het
Arfgef1	T	C	1: 10,270,054 (GRCm39)	E365G	probably benign	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
AW554918	C	T	18: 25,423,001 (GRCm39)	Q151*	probably null	Het
Chd6	T	C	2: 160,802,183 (GRCm39)	D2217G	probably damaging	Het
Cntn5	T	A	9: 9,984,115 (GRCm39)	E166V	probably damaging	Het
Cyp4f15	T	C	17: 32,918,926 (GRCm39)	S319P	possibly damaging	Het
Dna2	G	A	10: 62,792,821 (GRCm39)	V279I	possibly damaging	Het
Edrf1	A	G	7: 133,258,220 (GRCm39)		probably benign	Het
Fmo3	A	T	1: 162,786,052 (GRCm39)	F313I	probably damaging	Het
Kcnj10	A	G	1: 172,197,221 (GRCm39)	D245G	possibly damaging	Het
Lrsam1	T	C	2: 32,818,661 (GRCm39)		probably null	Het
Mfn1	A	T	3: 32,628,439 (GRCm39)	H690L	probably benign	Het
Msh2	T	C	17: 88,014,643 (GRCm39)	F474L	probably damaging	Het
Nlrp4a	T	G	7: 26,159,240 (GRCm39)		probably benign	Het
Or2t44	T	A	11: 58,677,606 (GRCm39)	L182*	probably null	Het
Or4d10b	A	G	19: 12,036,811 (GRCm39)	F102L	probably damaging	Het
Or4k45	T	A	2: 111,394,888 (GRCm39)	R300S	possibly damaging	Het
Or51f5	T	A	7: 102,424,505 (GRCm39)	I258N	probably damaging	Het
Or52n2c	T	C	7: 104,574,075 (GRCm39)	T299A	probably damaging	Het
Or8g35	G	A	9: 39,381,542 (GRCm39)	T160I	probably benign	Het
Plcxd3	G	A	15: 4,604,285 (GRCm39)	V298I	possibly damaging	Het
Prrc2b	C	T	2: 32,084,441 (GRCm39)	S302F	probably damaging	Het
Serpine2	A	T	1: 79,779,272 (GRCm39)	F149I	probably damaging	Het
Slc24a5	T	C	2: 124,930,154 (GRCm39)	L485P	probably damaging	Het
Spg11	T	A	2: 121,889,988 (GRCm39)	H2118L	probably damaging	Het
Stxbp1	T	C	2: 32,709,913 (GRCm39)	D60G	probably damaging	Het
Themis2	T	A	4: 132,510,795 (GRCm39)	E582D	probably benign	Het
Tmem131	T	G	1: 36,832,232 (GRCm39)	I1802L	probably benign	Het
Tnrc6a	A	G	7: 122,770,696 (GRCm39)	K829E	probably damaging	Het
Usp8	T	C	2: 126,575,943 (GRCm39)	M213T	probably damaging	Het
Wnk2	A	G	13: 49,248,920 (GRCm39)	V377A	probably damaging	Het
Wwox	T	G	8: 116,078,443 (GRCm39)	Y375D	probably 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
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