Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Srrm1'

304641

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 #

IGL02713

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	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
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
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