Mutagenetix > Incidental Mutation

Incidental Mutation 'R0704:Srsf12'

63082

Institutional Source

Beutler Lab

Gene Symbol

Srsf12

Ensembl Gene

ENSMUSG00000054679

Gene Name

serine/arginine-rich splicing factor 12

Synonyms

Sfrs13b, Srrp

MMRRC Submission

038887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R0704 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

33208991-33233340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33231069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 188 (R188G)

Ref Sequence

ENSEMBL: ENSMUSP00000103794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067864] [ENSMUST00000108159]

AlphaFold

Q8C8K3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067864
AA Change: R193G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: R193G

Domain	Start	End	E-Value	Type
low complexity region	31	75	N/A	INTRINSIC
low complexity region	79	96	N/A	INTRINSIC
low complexity region	110	141	N/A	INTRINSIC
low complexity region	145	166	N/A	INTRINSIC
low complexity region	172	196	N/A	INTRINSIC
internal_repeat_1	204	216	9.52e-5	PROSPERO
internal_repeat_1	232	244	9.52e-5	PROSPERO
low complexity region	248	262	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108159
AA Change: R188G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: R188G

Domain	Start	End	E-Value	Type
RRM	11	84	9.99e-24	SMART
low complexity region	105	136	N/A	INTRINSIC
low complexity region	140	161	N/A	INTRINSIC
low complexity region	167	191	N/A	INTRINSIC
low complexity region	243	257	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,210,083	V1256A	possibly damaging	Het
4930433I11Rik	T	A	7: 40,993,957	L441Q	probably damaging	Het
Abca15	A	T	7: 120,354,523	E550V	probably damaging	Het
Adcy4	A	G	14: 55,772,756	F690L	probably benign	Het
Aspg	T	A	12: 112,114,472	N132K	probably damaging	Het
B430305J03Rik	A	T	3: 61,363,993	Y110*	probably null	Het
Cep135	A	G	5: 76,630,949	E741G	possibly damaging	Het
Dkkl1	T	C	7: 45,210,115	K128E	probably damaging	Het
Duox2	A	T	2: 122,284,768	M1101K	probably benign	Het
Gpr89	T	C	3: 96,880,168		probably null	Het
Hormad1	T	C	3: 95,566,686		probably null	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Itga2	A	G	13: 114,862,375	F658S	possibly damaging	Het
Kcnc4	T	C	3: 107,447,963	I390V	possibly damaging	Het
Krt84	G	T	15: 101,532,677	H27N	probably benign	Het
Lama5	A	G	2: 180,179,484	I3095T	possibly damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Ms4a1	T	C	19: 11,253,232	T202A	probably benign	Het
Nrbp2	A	G	15: 76,088,952	S294P	probably damaging	Het
Olfr524	A	G	7: 140,202,635	V45A	probably benign	Het
Olfr811	A	G	10: 129,802,303	V74A	probably benign	Het
Pde4b	C	T	4: 102,487,392	L155F	probably damaging	Het
Pds5a	A	G	5: 65,620,585	S6P	probably damaging	Het
Ralgapa2	A	T	2: 146,451,784	L150Q	probably damaging	Het
Reln	C	T	5: 21,896,811	V3374I	probably damaging	Het
Rgs12	T	G	5: 35,023,122	S253A	possibly damaging	Het
Sap130	C	A	18: 31,653,554	T266K	probably damaging	Het
Sis	T	C	3: 72,949,822	I379V	possibly damaging	Het
Slc39a10	T	A	1: 46,835,861	I94F	possibly damaging	Het
Sptb	A	T	12: 76,583,594	N2263K	probably damaging	Het
Ssxb9	T	G	X: 8,371,783	S130R	probably damaging	Het
Tg	A	G	15: 66,757,880	D470G	probably benign	Het
Urb1	T	C	16: 90,776,207	Q979R	probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Zfp78	T	A	7: 6,379,252	C402S	probably damaging	Het

Other mutations in Srsf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Srsf12	APN	4	33226103	missense	possibly damaging	0.66
IGL02245:Srsf12	APN	4	33209103	unclassified	probably benign
IGL03197:Srsf12	APN	4	33231040	missense	probably damaging	1.00
IGL03412:Srsf12	APN	4	33230929	missense	probably damaging	0.99
R0173:Srsf12	UTSW	4	33226117	missense	probably damaging	1.00
R1618:Srsf12	UTSW	4	33230974	missense	probably damaging	0.99
R2130:Srsf12	UTSW	4	33225764	critical splice acceptor site	probably benign
R2916:Srsf12	UTSW	4	33231042	nonsense	probably null
R2989:Srsf12	UTSW	4	33223599	missense	probably damaging	1.00
R4350:Srsf12	UTSW	4	33223612	missense	possibly damaging	0.80
R4946:Srsf12	UTSW	4	33231174	missense	probably damaging	0.98
R5358:Srsf12	UTSW	4	33209330	missense	probably damaging	0.99
R5802:Srsf12	UTSW	4	33230929	missense	probably damaging	0.99
R6577:Srsf12	UTSW	4	33209196	unclassified	probably benign
R7055:Srsf12	UTSW	4	33226157	missense	probably damaging	1.00
R7392:Srsf12	UTSW	4	33209265	missense	unknown
R8365:Srsf12	UTSW	4	33226070	missense	probably damaging	0.99
R8366:Srsf12	UTSW	4	33226070	missense	probably damaging	0.99
R8388:Srsf12	UTSW	4	33226070	missense	probably damaging	0.99
R8389:Srsf12	UTSW	4	33226070	missense	probably damaging	0.99
R8391:Srsf12	UTSW	4	33226070	missense	probably damaging	0.99
R8696:Srsf12	UTSW	4	33231181	missense	possibly damaging	0.83
R8698:Srsf12	UTSW	4	33231246	missense	probably damaging	0.98
R8815:Srsf12	UTSW	4	33226045	missense	possibly damaging	0.83
R9653:Srsf12	UTSW	4	33231249	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AAGAGCTGTCTTAACCTGCTGCC -3'
(R):5'- TTAACCACAGCGAGGTGTGAGAGC -3'

Sequencing Primer
(F):5'- TGCTGCCCTGTATAAAATACACG -3'
(R):5'- GTAACTCCGAGATCTGGAGTG -3'

Posted On

2013-07-30