Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Srsf12'

174420

Institutional Source

Beutler Lab

Gene Symbol

Srsf12

Ensembl Gene

ENSMUSG00000054679

Gene Name

serine/arginine-rich splicing factor 12

Synonyms

Sfrs13b, Srrp

MMRRC Submission

039655-MU

Accession Numbers

Essential gene?

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

Stock #

R1618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33208991-33233340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33230974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 156 (S156L)

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: S161L

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

SMART Domains

Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: S161L

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: S156L

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

SMART Domains

Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: S156L

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

Meta Mutation Damage Score

0.1887

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,498,946		noncoding transcript	Het
Abca8b	A	T	11: 109,949,888		probably benign	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Anln	A	G	9: 22,350,918		probably null	Het
Anpep	T	G	7: 79,835,417	Q607P	probably benign	Het
Arl13b	A	C	16: 62,813,277		probably null	Het
Asxl3	T	C	18: 22,516,987	S678P	probably damaging	Het
Atf6b	C	T	17: 34,647,728	Q58*	probably null	Het
Camsap3	A	G	8: 3,598,740	T20A	probably benign	Het
Cfap46	T	A	7: 139,652,810	M782L	probably benign	Het
Cngb3	T	C	4: 19,364,260	S155P	probably benign	Het
Coro1a	T	C	7: 126,701,547	I162V	probably benign	Het
Cry1	T	A	10: 85,146,454	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,424,850	M292K	probably benign	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Cul9	A	T	17: 46,525,892	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,643,264		probably benign	Het
Dnah11	T	C	12: 118,015,465	I2633V	probably damaging	Het
Eif4g3	C	A	4: 138,206,058	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204	T592A	probably benign	Het
Evi5	T	C	5: 107,799,118		probably benign	Het
Exo1	T	A	1: 175,901,386	M672K	probably benign	Het
Fcho1	T	C	8: 71,710,403	S661G	probably damaging	Het
Fnip2	A	G	3: 79,508,168	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,760,011	D79G	probably damaging	Het
Fyco1	T	C	9: 123,829,281	Y610C	probably damaging	Het
Gm3095	C	A	14: 3,964,571	N96K	probably damaging	Het
Gm3095	T	A	14: 3,964,572	Y97N	probably damaging	Het
Gmfb	A	T	14: 46,811,780	L128*	probably null	Het
Gprc5c	T	A	11: 114,864,394	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,637,229	V50I	probably benign	Het
Hspa12b	A	C	2: 131,140,929	K236Q	probably benign	Het
Impg2	A	G	16: 56,259,858	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,116,607		probably null	Het
Kprp	G	A	3: 92,825,476	T89I	probably damaging	Het
Lcmt2	T	C	2: 121,138,652	E650G	probably damaging	Het
Lrch1	T	C	14: 74,813,704	D331G	probably damaging	Het
Mroh9	T	A	1: 163,024,541	I860F	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,827,397	D349G	unknown	Het
Ndufs2	T	C	1: 171,246,121	T31A	probably benign	Het
Ndufs3	A	T	2: 90,898,672	S157T	probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Noct	T	A	3: 51,247,830	S6R	probably damaging	Het
Npas2	T	A	1: 39,300,727	H119Q	probably damaging	Het
Olfr1076	T	G	2: 86,508,849	L130R	probably damaging	Het
Olfr1206	A	G	2: 88,865,527		probably null	Het
Olfr138	G	A	17: 38,275,666		probably null	Het
Oprl1	A	T	2: 181,718,853	Y207F	probably benign	Het
Palm3	G	T	8: 84,029,662	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,266,495	C163S	probably damaging	Het
Ptprk	A	T	10: 28,493,170	M713L	probably benign	Het
Rdm1	A	G	11: 101,628,391	D72G	possibly damaging	Het
Reln	T	C	5: 22,060,368	D442G	probably benign	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,404,216	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,788,736	V222G	probably damaging	Het
Sept12	T	C	16: 4,996,476	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,786,342		probably benign	Het
Slc33a1	T	C	3: 63,948,229	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,849,163	S316P	probably benign	Het
Spata48	A	G	11: 11,488,641		probably benign	Het
Srrm2	T	A	17: 23,818,932		probably benign	Het
Syce3	A	G	15: 89,390,403	M49T	probably benign	Het
Tjp3	T	C	10: 81,276,260		probably benign	Het
Tnks	G	T	8: 34,875,276	N373K	probably damaging	Het
Togaram1	A	G	12: 64,967,073	N366S	possibly damaging	Het
Trpm1	G	A	7: 64,240,535	R962H	probably damaging	Het
Trpm6	A	T	19: 18,877,631	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,771,796	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,814,224	M3399T	probably benign	Het
Utp15	G	A	13: 98,257,187	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,541,300	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,875,912	W9*	probably null	Het
Wdr17	T	C	8: 54,639,895	Y1076C	probably damaging	Het
Zan	T	C	5: 137,383,830	T5152A	unknown	Het
Zbtb46	A	T	2: 181,424,249	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,469,283	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,875,786	Y418*	probably null	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
R0704:Srsf12	UTSW	4	33231069	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'- TCGGGATCTAGTCACACCCCAAAG -3'
(R):5'- CTTGCTATGGAGTCACAGTGTCGTC -3'

Sequencing Primer
(F):5'- gagccatcttgacagccc -3'
(R):5'- CATCGACTTGGACCTTTTGG -3'

Posted On

2014-04-24