Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02686:Srrm1'

303551

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 #

IGL02686

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	C	T	12: 81,468,448 (GRCm39)	G58S	possibly damaging	Het
Adcyap1r1	G	A	6: 55,458,110 (GRCm39)	A304T	probably benign	Het
Adipoq	A	G	16: 22,975,865 (GRCm39)	T110A	possibly damaging	Het
Ago2	T	C	15: 72,985,591 (GRCm39)	Y668C	possibly damaging	Het
Ampd2	A	T	3: 107,983,811 (GRCm39)	D575E	possibly damaging	Het
Anxa5	C	T	3: 36,503,504 (GRCm39)	E317K	probably benign	Het
Atf2	A	T	2: 73,675,844 (GRCm39)	M169K	possibly damaging	Het
Bicc1	C	A	10: 70,779,190 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,721,840 (GRCm39)	M559T	probably benign	Het
Bltp3a	T	C	17: 28,113,563 (GRCm39)	I1245T	probably benign	Het
Bltp3b	A	T	10: 89,641,055 (GRCm39)	Q742L	probably benign	Het
Cacna1e	G	A	1: 154,369,155 (GRCm39)	A294V	probably damaging	Het
Cacna1h	G	A	17: 25,604,723 (GRCm39)	P1197S	possibly damaging	Het
Cmya5	G	A	13: 93,227,505 (GRCm39)	Q2528*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cts8	T	C	13: 61,398,784 (GRCm39)	T241A	probably benign	Het
Cubn	T	C	2: 13,330,037 (GRCm39)	I2615V	possibly damaging	Het
Cxcl12	A	G	6: 117,150,546 (GRCm39)		probably benign	Het
Fig4	T	C	10: 41,140,000 (GRCm39)	D307G	probably damaging	Het
Flt1	T	C	5: 147,525,412 (GRCm39)	I909V	probably damaging	Het
Foxk1	T	A	5: 142,439,340 (GRCm39)	S427T	probably damaging	Het
Gosr1	G	A	11: 76,641,688 (GRCm39)	T130M	probably benign	Het
Grik1	G	T	16: 87,806,649 (GRCm39)		probably null	Het
Hipk1	C	T	3: 103,685,333 (GRCm39)	S94N	possibly damaging	Het
Ints7	T	C	1: 191,318,704 (GRCm39)	L147P	probably damaging	Het
Nsd3	A	G	8: 26,156,086 (GRCm39)	D551G	probably damaging	Het
Or11g25	G	A	14: 50,723,426 (GRCm39)	M170I	probably benign	Het
Or5p81	A	T	7: 108,267,093 (GRCm39)	I157F	probably benign	Het
Prrc2c	T	C	1: 162,535,516 (GRCm39)		probably benign	Het
Ren1	A	T	1: 133,286,207 (GRCm39)	N250I	possibly damaging	Het
Ripply2	A	C	9: 86,898,009 (GRCm39)		probably benign	Het
Ryr1	G	T	7: 28,768,975 (GRCm39)		probably benign	Het
Smad3	T	A	9: 63,575,064 (GRCm39)	K51M	probably damaging	Het
Snapc1	C	A	12: 74,011,370 (GRCm39)		probably benign	Het
Srfbp1	T	G	18: 52,608,726 (GRCm39)	V42G	probably damaging	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Tat	T	C	8: 110,723,481 (GRCm39)	V323A	probably damaging	Het
Tdo2	T	C	3: 81,875,462 (GRCm39)	N164S	probably benign	Het
Tefm	T	A	11: 80,027,722 (GRCm39)	L345F	probably damaging	Het
Tmem145	C	A	7: 25,014,150 (GRCm39)	N407K	probably damaging	Het
Vmn2r116	A	G	17: 23,607,767 (GRCm39)	N445S	probably damaging	Het
Vmn2r20	A	G	6: 123,362,585 (GRCm39)	M733T	probably benign	Het
Vmn2r93	G	A	17: 18,533,526 (GRCm39)	V477M	possibly damaging	Het
Zdhhc4	A	G	5: 143,306,146 (GRCm39)	F194S	probably damaging	Het
Zfp738	A	T	13: 67,821,771 (GRCm39)	S25T	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
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
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