Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Srrm3'

295132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srrm3

Ensembl Gene

ENSMUSG00000039860

Gene Name

serine/arginine repetitive matrix 3

Synonyms

Srrm2l, 2900083I11Rik, SRm300-like

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

135835744-135903626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135864103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 67 (C67F)

Ref Sequence

ENSEMBL: ENSMUSP00000115695 (fasta)

Gene Model

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

AlphaFold

Q80WV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000013615
AA Change: C67F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000013615
Gene: ENSMUSG00000039860
AA Change: C67F

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: C67F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122821
Gene: ENSMUSG00000039860
AA Change: C67F

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: C67F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115695
Gene: ENSMUSG00000039860
AA Change: C67F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175494

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,639,461 (GRCm39)	Y528C	probably damaging	Het
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Eno3	T	A	11: 70,551,714 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrit2	T	C	14: 36,794,235 (GRCm39)	L433P	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Med12	A	T	X: 100,340,598 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Slx9	T	C	10: 77,350,161 (GRCm39)	S76G	probably damaging	Het
Sppl2c	G	A	11: 104,077,763 (GRCm39)	V188I	probably benign	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably damaging	Het

Other mutations in Srrm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02716:Srrm3	APN	5	135,883,287 (GRCm39)	splice site	probably null
IGL03099:Srrm3	APN	5	135,898,152 (GRCm39)	splice site	probably benign
P0047:Srrm3	UTSW	5	135,881,780 (GRCm39)	splice site	probably null
R0688:Srrm3	UTSW	5	135,898,130 (GRCm39)	utr 3 prime	probably benign
R0811:Srrm3	UTSW	5	135,902,136 (GRCm39)	unclassified	probably benign
R0812:Srrm3	UTSW	5	135,902,136 (GRCm39)	unclassified	probably benign
R1083:Srrm3	UTSW	5	135,883,263 (GRCm39)	missense	probably damaging	0.99
R1161:Srrm3	UTSW	5	135,883,246 (GRCm39)	small deletion	probably benign
R1656:Srrm3	UTSW	5	135,863,892 (GRCm39)	critical splice acceptor site	probably null
R1694:Srrm3	UTSW	5	135,902,079 (GRCm39)	unclassified	probably benign
R1803:Srrm3	UTSW	5	135,885,983 (GRCm39)	missense	probably damaging	0.99
R2037:Srrm3	UTSW	5	135,883,231 (GRCm39)	missense	probably damaging	1.00
R2436:Srrm3	UTSW	5	135,864,030 (GRCm39)	nonsense	probably null
R3826:Srrm3	UTSW	5	135,886,068 (GRCm39)	missense	probably damaging	0.99
R3829:Srrm3	UTSW	5	135,886,068 (GRCm39)	missense	probably damaging	0.99
R4840:Srrm3	UTSW	5	135,883,449 (GRCm39)	missense	possibly damaging	0.81
R6526:Srrm3	UTSW	5	135,864,088 (GRCm39)	missense	probably damaging	1.00
R6843:Srrm3	UTSW	5	135,881,135 (GRCm39)	missense	probably benign	0.01
R7408:Srrm3	UTSW	5	135,881,060 (GRCm39)	missense	probably benign	0.04
R7583:Srrm3	UTSW	5	135,881,135 (GRCm39)	missense	probably benign	0.01
R8096:Srrm3	UTSW	5	135,898,094 (GRCm39)	missense	unknown
R9294:Srrm3	UTSW	5	135,897,115 (GRCm39)	missense	unknown
R9605:Srrm3	UTSW	5	135,881,105 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16