Mutagenetix > Incidental Mutation

Incidental Mutation 'R6526:Srrm3'

543519

Institutional Source

Beutler Lab

Gene Symbol

Srrm3

Ensembl Gene

ENSMUSG00000039860

Gene Name

serine/arginine repetitive matrix 3

Synonyms

2900083I11Rik, Srrm2l, SRm300-like

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R6526 (G1)

Quality Score

76.0075

Status

Validated

Chromosome

Chromosomal Location

135806890-135874772 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135835234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 62 (R62L)

Ref Sequence

ENSEMBL: ENSMUSP00000013615 (fasta)

Gene Model

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

AlphaFold

Q80WV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000013615
AA Change: R62L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000013615
Gene: ENSMUSG00000039860
AA Change: R62L

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 damaging
Transcript: ENSMUST00000126232
AA Change: R62L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122821
Gene: ENSMUSG00000039860
AA Change: R62L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144211
AA Change: R62L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115695
Gene: ENSMUSG00000039860
AA Change: R62L

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

Meta Mutation Damage Score

0.2706

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.5%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,284,172		probably null	Het
Abcc3	C	T	11: 94,359,372	G975D	probably benign	Het
Abhd13	G	A	8: 9,987,777	G125S	probably damaging	Het
Ache	T	A	5: 137,290,644	L204Q	probably damaging	Het
Acnat2	A	G	4: 49,383,497	S19P	probably benign	Het
Adprh	A	G	16: 38,447,276	Y216H	probably benign	Het
Anapc1	T	A	2: 128,672,135	K429*	probably null	Het
Anxa13	T	C	15: 58,344,957		noncoding transcript	Het
Aprt	A	C	8: 122,576,816	L6W	probably damaging	Het
Arhgef15	T	C	11: 68,949,994	T569A	probably damaging	Het
Atp11a	T	C	8: 12,864,999	L1139P	probably benign	Het
Atp2b4	A	G	1: 133,711,729	S1136P	probably damaging	Het
B9d1	T	A	11: 61,509,097	Y90*	probably null	Het
Btla	G	A	16: 45,239,094	A54T	probably damaging	Het
Cd63	T	C	10: 128,911,489	V35A	probably benign	Het
Chek2	T	C	5: 110,848,690	F173L	probably damaging	Het
Cntnap3	T	A	13: 64,781,888	N499I	possibly damaging	Het
Cog4	T	C	8: 110,881,786	L738P	probably damaging	Het
Cops6	T	C	5: 138,163,900		probably null	Het
Cpeb1	T	A	7: 81,361,669	I175F	probably benign	Het
Cyp3a16	C	T	5: 145,455,895	D174N	probably benign	Het
Dnah6	T	G	6: 73,074,704	I2984L	probably benign	Het
Dock10	A	T	1: 80,586,351	I540N	probably damaging	Het
Elf5	A	G	2: 103,439,233	Y53C	probably damaging	Het
Elmod2	T	C	8: 83,319,457	T164A	probably damaging	Het
Epn3	A	G	11: 94,494,932		probably null	Het
Fam151a	A	T	4: 106,734,004	I15F	possibly damaging	Het
Gm11115	T	A	5: 88,154,050		probably null	Het
Gm13103	A	G	4: 143,852,814	D323G	probably damaging	Het
Golga3	T	A	5: 110,204,895	I884N	probably damaging	Het
Gria2	A	T	3: 80,692,469	F703I	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Gtpbp2	A	T	17: 46,164,111		probably null	Het
Herc2	T	C	7: 56,157,330	S2419P	probably damaging	Het
Ikbkap	T	C	4: 56,798,812		probably null	Het
Inpp5d	T	C	1: 87,676,250		probably benign	Het
Kdm2b	C	A	5: 122,961,469	V136F	probably damaging	Het
Klra2	T	A	6: 131,221,876	D234V	probably benign	Het
Lct	A	T	1: 128,300,478	S1093T	probably benign	Het
March9	A	G	10: 127,056,689	L310P	probably benign	Het
Morc1	G	T	16: 48,587,124	E668*	probably null	Het
Mum1	A	G	10: 80,232,279	T86A	probably benign	Het
Nbas	A	T	12: 13,405,425	L1213F	probably damaging	Het
Neto1	A	G	18: 86,498,748	T397A	possibly damaging	Het
Oit3	A	G	10: 59,429,640	C268R	probably damaging	Het
Olfr476	A	G	7: 107,967,462	T22A	probably benign	Het
Pcx	T	C	19: 4,604,495	F312L	probably benign	Het
Pitx2	T	C	3: 129,214,783		probably null	Het
Pkhd1l1	G	A	15: 44,498,089		probably null	Het
Polr1a	C	A	6: 71,929,443	D414E	possibly damaging	Het
Prkch	T	C	12: 73,702,775	Y381H	probably damaging	Het
Ptger3	T	A	3: 157,567,502	V162E	probably damaging	Het
Ptgr2	T	G	12: 84,313,952	M332R	probably damaging	Het
Ptprq	G	T	10: 107,542,653	S2009*	probably null	Het
Rangrf	C	T	11: 68,973,688	G11R	probably damaging	Het
Rbl2	A	T	8: 91,096,839	Q465L	probably benign	Het
Rhbdd1	A	T	1: 82,340,659	M88L	probably benign	Het
Setd2	G	A	9: 110,532,717	M13I	probably benign	Het
Sirpb1a	T	C	3: 15,379,020	Y384C	probably damaging	Het
Slc13a1	C	T	6: 24,097,612	G439S	probably damaging	Het
Slc41a1	T	A	1: 131,841,149	I239N	probably damaging	Het
Slit2	T	A	5: 48,304,167	C1502S	probably damaging	Het
Slit3	G	A	11: 35,661,292	E888K	probably benign	Het
Synm	A	G	7: 67,735,583	V777A	possibly damaging	Het
Trmt13	T	A	3: 116,592,215	N31I	probably damaging	Het
Trpm8	G	A	1: 88,361,998	E893K	probably damaging	Het
Uqcc1	A	G	2: 155,851,423	F197S	probably damaging	Het
Vmn1r67	T	A	7: 10,447,671	N287K	probably benign	Het
Vmn2r44	A	T	7: 8,378,099	M265K	probably benign	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Xdh	C	A	17: 73,900,551	C937F	probably damaging	Het
Zfp846	T	A	9: 20,593,871	N342K	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
R2037:Srrm3	UTSW	5	135854377	missense	probably damaging	1.00
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
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
R8096:Srrm3	UTSW	5	135869240	missense	unknown
R9294:Srrm3	UTSW	5	135868261	missense	unknown
R9605:Srrm3	UTSW	5	135852251	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCCTCCACCGTGAACAAC -3'
(R):5'- ACCGAGTACTCCTTCTCTGG -3'

Sequencing Primer
(F):5'- GTGAACAACGGGGCTACC -3'
(R):5'- GCTGCACCAAGTCCCGAAG -3'

Posted On

2019-02-15