Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Srsf12'

448772

Institutional Source

Beutler Lab

Gene Symbol

Srsf12

Ensembl Gene

ENSMUSG00000054679

Gene Name

serine and arginine-rich splicing factor 12

Synonyms

Sfrs13b, Srrp

MMRRC Submission

043391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33208991-33233340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33230929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 141 (R141L)

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: R146L

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

SMART Domains

Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: R146L

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: R141L

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

SMART Domains

Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: R141L

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

0.0862

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 12,021,188 (GRCm39)	D383V	probably damaging	Het
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Abca4	A	T	3: 121,847,881 (GRCm39)	L67F	probably damaging	Het
Abcc9	C	A	6: 142,602,402 (GRCm39)		probably null	Het
Atp2a3	T	C	11: 72,863,708 (GRCm39)	V175A	probably damaging	Het
B3galt4	T	A	17: 34,169,731 (GRCm39)	D169V	probably damaging	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,872,307 (GRCm39)	E90G	probably damaging	Het
Cdon	T	A	9: 35,365,716 (GRCm39)	I155N	probably damaging	Het
Cep70	A	G	9: 99,178,458 (GRCm39)	N519D	probably damaging	Het
Clgn	T	C	8: 84,152,243 (GRCm39)	S582P	probably damaging	Het
Cnga3	T	C	1: 37,300,006 (GRCm39)	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,729,690 (GRCm39)	T764M	probably benign	Het
Dis3	A	T	14: 99,337,100 (GRCm39)	S4T	probably damaging	Het
Dlgap1	T	C	17: 71,073,086 (GRCm39)		probably null	Het
Dnah17	C	T	11: 117,927,272 (GRCm39)	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,289,550 (GRCm39)	Y286H	probably benign	Het
Dynap	T	A	18: 70,374,073 (GRCm39)	D151V	unknown	Het
Ednrb	A	G	14: 104,059,150 (GRCm39)	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,386,318 (GRCm39)	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582 (GRCm39)	F324S	probably benign	Het
Fbxw11	T	A	11: 32,661,790 (GRCm39)	S56T	probably benign	Het
Gm17535	G	C	9: 3,035,758 (GRCm39)	V209L	probably benign	Homo
Gm5592	C	T	7: 40,868,529 (GRCm39)		probably benign	Het
Gpr137	C	T	19: 6,919,373 (GRCm39)	W51*	probably null	Het
H2-T9	A	G	17: 36,422,179 (GRCm39)		probably benign	Het
Hbb-bs	T	C	7: 103,475,879 (GRCm39)	Y146C	probably damaging	Het
Herc1	G	T	9: 66,370,160 (GRCm39)	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,495,400 (GRCm39)	N309K	unknown	Het
Hydin	A	T	8: 111,178,692 (GRCm39)	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,260,330 (GRCm39)	V133A	probably benign	Het
Lats2	A	T	14: 57,931,875 (GRCm39)	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,026,270 (GRCm39)	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,212,569 (GRCm39)	H664P	probably benign	Het
Lypd6	C	T	2: 50,063,613 (GRCm39)	T40I	probably benign	Het
Nbeal1	A	T	1: 60,311,380 (GRCm39)	T1817S	probably benign	Het
Nub1	A	C	5: 24,907,439 (GRCm39)	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,286,874 (GRCm39)	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,515,688 (GRCm39)	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,653,252 (GRCm39)	Y32H	probably damaging	Het
Raph1	T	C	1: 60,527,832 (GRCm39)	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,003,353 (GRCm39)	T859A	probably benign	Het
Rom1	A	G	19: 8,906,188 (GRCm39)	L117P	probably damaging	Het
Senp6	T	C	9: 80,025,926 (GRCm39)		probably benign	Het
Sirpb1c	T	C	3: 15,886,240 (GRCm39)	M379V	probably benign	Het
Slc6a4	C	T	11: 76,910,062 (GRCm39)	T439M	probably damaging	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Tcstv2c	G	A	13: 120,616,449 (GRCm39)	S96N	possibly damaging	Het
Tecpr1	A	T	5: 144,143,364 (GRCm39)	N670K	probably benign	Het
Tgds	T	C	14: 118,370,119 (GRCm39)	E8G	probably benign	Het
Tmem129	A	G	5: 33,815,060 (GRCm39)	S38P	probably damaging	Het
Trappc9	T	C	15: 72,557,188 (GRCm39)	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236 (GRCm39)		probably benign	Het
Wapl	A	G	14: 34,414,277 (GRCm39)	T380A	probably damaging	Het
Xylt1	A	T	7: 117,255,914 (GRCm39)	T829S	probably benign	Het
Zc3h6	C	T	2: 128,857,479 (GRCm39)	P666L	possibly damaging	Het
Zfp1010	T	C	2: 176,957,049 (GRCm39)	T150A	possibly damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Srsf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Srsf12	APN	4	33,226,103 (GRCm39)	missense	possibly damaging	0.66
IGL02245:Srsf12	APN	4	33,209,103 (GRCm39)	unclassified	probably benign
IGL03197:Srsf12	APN	4	33,231,040 (GRCm39)	missense	probably damaging	1.00
IGL03412:Srsf12	APN	4	33,230,929 (GRCm39)	missense	probably damaging	0.99
R0173:Srsf12	UTSW	4	33,226,117 (GRCm39)	missense	probably damaging	1.00
R0704:Srsf12	UTSW	4	33,231,069 (GRCm39)	missense	probably damaging	0.99
R1618:Srsf12	UTSW	4	33,230,974 (GRCm39)	missense	probably damaging	0.99
R2130:Srsf12	UTSW	4	33,225,764 (GRCm39)	critical splice acceptor site	probably benign
R2916:Srsf12	UTSW	4	33,231,042 (GRCm39)	nonsense	probably null
R2989:Srsf12	UTSW	4	33,223,599 (GRCm39)	missense	probably damaging	1.00
R4350:Srsf12	UTSW	4	33,223,612 (GRCm39)	missense	possibly damaging	0.80
R4946:Srsf12	UTSW	4	33,231,174 (GRCm39)	missense	probably damaging	0.98
R5358:Srsf12	UTSW	4	33,209,330 (GRCm39)	missense	probably damaging	0.99
R6577:Srsf12	UTSW	4	33,209,196 (GRCm39)	unclassified	probably benign
R7055:Srsf12	UTSW	4	33,226,157 (GRCm39)	missense	probably damaging	1.00
R7392:Srsf12	UTSW	4	33,209,265 (GRCm39)	missense	unknown
R8365:Srsf12	UTSW	4	33,226,070 (GRCm39)	missense	probably damaging	0.99
R8366:Srsf12	UTSW	4	33,226,070 (GRCm39)	missense	probably damaging	0.99
R8388:Srsf12	UTSW	4	33,226,070 (GRCm39)	missense	probably damaging	0.99
R8389:Srsf12	UTSW	4	33,226,070 (GRCm39)	missense	probably damaging	0.99
R8391:Srsf12	UTSW	4	33,226,070 (GRCm39)	missense	probably damaging	0.99
R8696:Srsf12	UTSW	4	33,231,181 (GRCm39)	missense	possibly damaging	0.83
R8698:Srsf12	UTSW	4	33,231,246 (GRCm39)	missense	probably damaging	0.98
R8815:Srsf12	UTSW	4	33,226,045 (GRCm39)	missense	possibly damaging	0.83
R9653:Srsf12	UTSW	4	33,231,249 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CAATACTTGAGTCTGGGGAGG -3'
(R):5'- GCGTGACTGTGATTTCTCCATC -3'

Sequencing Primer
(F):5'- CTGGAACTGTGTGACCTACCATG -3'
(R):5'- CCATCGACTTGGACCTTTTGGG -3'

Posted On

2016-12-15