Mutagenetix > Incidental Mutations

Incidental Mutation 'R2037:Srrm3'

224766

Institutional Source

Beutler Lab

Gene Symbol

Srrm3

Ensembl Gene

ENSMUSG00000039860

Gene Name

serine/arginine repetitive matrix 3

Synonyms

2900083I11Rik, Srrm2l, SRm300-like

MMRRC Submission

040044-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R2037 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

135806890-135874772 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135854377 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 195 (S195R)

Ref Sequence

ENSEMBL: ENSMUSP00000115695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013615] [ENSMUST00000126232] [ENSMUST00000144211]

Predicted Effect

probably damaging
Transcript: ENSMUST00000013615
AA Change: S195R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000013615
Gene: ENSMUSG00000039860
AA Change: S195R

Domain	Start	End	E-Value	Type
low complexity region	34	43	N/A	INTRINSIC
cwf21	55	100	8.92e-17	SMART
low complexity region	160	186	N/A	INTRINSIC
low complexity region	200	242	N/A	INTRINSIC
low complexity region	253	276	N/A	INTRINSIC
low complexity region	286	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126232

SMART Domains

Protein: ENSMUSP00000122821
Gene: ENSMUSG00000039860

Domain	Start	End	E-Value	Type
low complexity region	34	43	N/A	INTRINSIC
cwf21	55	100	8.92e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135615

Predicted Effect

probably damaging
Transcript: ENSMUST00000144211
AA Change: S195R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115695
Gene: ENSMUSG00000039860
AA Change: S195R

Domain	Start	End	E-Value	Type
low complexity region	34	43	N/A	INTRINSIC
cwf21	55	100	8.92e-17	SMART
internal_repeat_1	122	142	4.3e-6	PROSPERO
low complexity region	160	186	N/A	INTRINSIC
low complexity region	200	242	N/A	INTRINSIC
low complexity region	253	276	N/A	INTRINSIC
low complexity region	286	317	N/A	INTRINSIC
internal_repeat_1	325	345	4.3e-6	PROSPERO
low complexity region	362	442	N/A	INTRINSIC
low complexity region	451	478	N/A	INTRINSIC
low complexity region	493	508	N/A	INTRINSIC
Pfam:SRRM_C	520	584	1.9e-28	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,089,984		probably null	Het
AI987944	T	C	7: 41,374,391	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,456,120	S296T	probably benign	Het
Apob	A	G	12: 8,007,488	D1957G	probably benign	Het
Baz1a	G	T	12: 54,929,646	P415Q	probably damaging	Het
Brca2	T	A	5: 150,540,669	H1299Q	probably benign	Het
C7	G	T	15: 5,034,238	S227*	probably null	Het
Catsperb	A	T	12: 101,507,962	R306S	probably damaging	Het
Cbx3	T	A	6: 51,471,813		probably null	Het
Ccdc129	A	G	6: 55,897,875	N270S	probably benign	Het
Ccnt2	A	G	1: 127,803,399	Y671C	probably damaging	Het
Crocc	A	G	4: 141,046,942		probably null	Het
Ctr9	G	A	7: 111,046,807	V669I	probably benign	Het
Dck	T	G	5: 88,772,717	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,944,606	D119E	probably benign	Het
Dnah10	A	T	5: 124,746,704	K596N	probably benign	Het
Dnah7a	A	T	1: 53,582,582	V1128E	probably benign	Het
Dph1	A	T	11: 75,185,853		probably null	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Enthd1	A	G	15: 80,560,349	S2P	possibly damaging	Het
Erc1	A	C	6: 119,722,255	V802G	possibly damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 75,322,998		probably null	Het
Fam169a	C	A	13: 97,107,092	A210E	probably benign	Het
Fcmr	A	G	1: 130,878,333	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,167,889	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,978,512	D1725G	probably damaging	Het
Heatr5b	A	T	17: 78,829,505	C195*	probably null	Het
Herc2	G	A	7: 56,205,961	A3882T	probably damaging	Het
Il20	T	A	1: 130,908,378	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,798,299	S892G	probably damaging	Het
Ipo13	A	T	4: 117,904,661	Y447*	probably null	Het
Kbtbd12	A	T	6: 88,617,797	N350K	probably benign	Het
Kiz	T	C	2: 146,969,960	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,117	D870G	probably benign	Het
Methig1	C	T	15: 100,353,586	A126V	probably benign	Het
Mme	A	G	3: 63,328,260	D209G	probably null	Het
Mroh4	A	G	15: 74,609,761	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,290,866	K190N	probably damaging	Het
Ncf1	T	C	5: 134,229,552	I6V	probably damaging	Het
Nmt2	T	C	2: 3,309,581	F121L	probably damaging	Het
Nol10	A	G	12: 17,361,151	D183G	probably benign	Het
Nsun7	T	C	5: 66,261,086	V53A	probably benign	Het
Olfr1045	T	C	2: 86,197,832	S307G	probably benign	Het
Olfr1054	T	C	2: 86,332,430	N309D	probably benign	Het
Olfr819	T	C	10: 129,966,140	I187V	probably benign	Het
Pappa2	A	T	1: 158,956,644	Y265*	probably null	Het
Pigg	G	A	5: 108,338,652	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,650,335	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,568,221		probably null	Het
Pld4	A	G	12: 112,768,558	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,343,193	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,182,657	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 91,902,629	D883E	probably damaging	Het
Retnlg	T	C	16: 48,874,252	C88R	probably damaging	Het
Sin3a	C	T	9: 57,096,825	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243		probably benign	Het
Sppl2c	G	C	11: 104,186,481	V36L	probably benign	Het
Srp72	T	A	5: 76,976,491	I68N	probably damaging	Het
Srrm4	T	A	5: 116,467,828		probably benign	Het
Ssb	A	G	2: 69,868,819	S199G	probably benign	Het
Sult2a6	T	A	7: 14,254,709	Y42F	probably damaging	Het
Syne2	A	G	12: 76,025,569	T120A	probably benign	Het
Tas1r1	A	G	4: 152,028,170	F809L	probably damaging	Het
Tead3	A	G	17: 28,336,570	S117P	probably damaging	Het
Tefm	C	T	11: 80,140,230	R60H	probably damaging	Het
Tmem104	G	A	11: 115,201,395	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,699,205	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 22,851,964	I178F	probably damaging	Het
Vmn1r6	A	T	6: 57,003,124	Y235F	probably damaging	Het
Xrcc5	C	A	1: 72,346,370	T540K	probably benign	Het

Other mutations in Srrm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Srrm3	APN	5	135835249	missense	probably damaging	1.00
IGL02716:Srrm3	APN	5	135854433	splice site	probably null
IGL03099:Srrm3	APN	5	135869298	splice site	probably benign
P0047:Srrm3	UTSW	5	135852926	splice site	probably null
R0688:Srrm3	UTSW	5	135869276	utr 3 prime	probably benign
R0811:Srrm3	UTSW	5	135873282	unclassified	probably benign
R0812:Srrm3	UTSW	5	135873282	unclassified	probably benign
R1083:Srrm3	UTSW	5	135854409	missense	probably damaging	0.99
R1161:Srrm3	UTSW	5	135854392	small deletion	probably benign
R1656:Srrm3	UTSW	5	135835038	critical splice acceptor site	probably null
R1694:Srrm3	UTSW	5	135873225	unclassified	probably benign
R1803:Srrm3	UTSW	5	135857129	missense	probably damaging	0.99
R2436:Srrm3	UTSW	5	135835176	nonsense	probably null
R3826:Srrm3	UTSW	5	135857214	missense	probably damaging	0.99
R3829:Srrm3	UTSW	5	135857214	missense	probably damaging	0.99
R4840:Srrm3	UTSW	5	135854595	missense	possibly damaging	0.81
R6526:Srrm3	UTSW	5	135835234	missense	probably damaging	1.00
R6843:Srrm3	UTSW	5	135852281	missense	probably benign	0.01
R7408:Srrm3	UTSW	5	135852206	missense	probably benign	0.04
R7583:Srrm3	UTSW	5	135852281	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTGCCAGTCTGACCCATAAG -3'
(R):5'- TTCAGGAAAGCACAGCTCAC -3'

Sequencing Primer
(F):5'- TAAGCTCCAGGTCATTCTATCCAAGG -3'
(R):5'- CCTGTAGGGTGATAAGTCCTCC -3'

Posted On

2014-08-25