Mutagenetix > Incidental Mutation

Incidental Mutation 'R8365:Srsf12'

646130

Institutional Source

Beutler Lab

Gene Symbol

Srsf12

Ensembl Gene

ENSMUSG00000054679

Gene Name

serine and arginine-rich splicing factor 12

Synonyms

Sfrs13b, Srrp

MMRRC Submission

067736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8365 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33208991-33233340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 33226070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 111 (P111R)

Ref Sequence

ENSEMBL: ENSMUSP00000067939 (fasta)

Gene Model

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

AlphaFold

Q8C8K3

Predicted Effect

probably damaging
Transcript: ENSMUST00000067864
AA Change: P111R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: P111R

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: P106R

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

SMART Domains

Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: P106R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,557,918 (GRCm39)	C79*	probably null	Het
Abcc9	A	T	6: 142,544,798 (GRCm39)	S1430T	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd17	T	C	5: 90,398,378 (GRCm39)	K1724R	possibly damaging	Het
Brf2	A	G	8: 27,618,566 (GRCm39)	S13P	possibly damaging	Het
Cfap46	T	A	7: 139,263,000 (GRCm39)	K18*	probably null	Het
Cym	T	G	3: 107,120,182 (GRCm39)	I306L	probably benign	Het
Cyp2c66	A	T	19: 39,165,048 (GRCm39)	H343L	probably benign	Het
Cyp2d34	T	C	15: 82,504,874 (GRCm39)	Y62C	probably damaging	Het
D630045J12Rik	A	G	6: 38,172,570 (GRCm39)	S533P	probably benign	Het
Dnajc10	A	G	2: 80,176,902 (GRCm39)	Y619C	probably damaging	Het
Dnal1	T	A	12: 84,178,163 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,502,277 (GRCm39)	M914K	probably damaging	Het
Epb41l2	C	A	10: 25,317,584 (GRCm39)	Q34K	probably benign	Het
Esyt1	T	G	10: 128,352,422 (GRCm39)	N730H	possibly damaging	Het
Fbxo15	T	G	18: 84,980,739 (GRCm39)	I238S	probably damaging	Het
Foxn3	T	C	12: 99,307,727 (GRCm39)	K204E	probably damaging	Het
Gtf2i	G	A	5: 134,303,434 (GRCm39)	S279L	probably benign	Het
Hhatl	A	G	9: 121,618,931 (GRCm39)	M67T	probably damaging	Het
Itpkc	C	A	7: 26,911,777 (GRCm39)	R598L	probably damaging	Het
Itprid2	T	C	2: 79,492,689 (GRCm39)	S1079P	probably damaging	Het
Jkampl	A	T	6: 73,446,329 (GRCm39)	N73K	probably benign	Het
Kctd18	A	T	1: 57,998,311 (GRCm39)	I263N	probably damaging	Het
Map1a	T	A	2: 121,138,528 (GRCm39)	M3002K	probably damaging	Het
Med13l	T	A	5: 118,866,709 (GRCm39)	S588T	possibly damaging	Het
Pcdh8	T	A	14: 80,008,426 (GRCm39)	I46F	probably damaging	Het
Prdm6	T	C	18: 53,685,137 (GRCm39)	V392A	probably benign	Het
Ptprt	T	A	2: 161,743,451 (GRCm39)	I497F	probably benign	Het
Rorc	A	G	3: 94,282,366 (GRCm39)	H22R	probably benign	Het
Scaf8	A	G	17: 3,246,241 (GRCm39)	I777V	possibly damaging	Het
Shroom1	A	T	11: 53,356,468 (GRCm39)	R444*	probably null	Het
Srcap	C	T	7: 127,148,869 (GRCm39)	T2030I	probably damaging	Het
Srgap3	A	G	6: 112,793,695 (GRCm39)	S94P	probably damaging	Het
Ttc27	C	T	17: 75,054,669 (GRCm39)	T325I	probably damaging	Het
Ucp1	A	C	8: 84,020,628 (GRCm39)	H146P	probably damaging	Het
Vmn1r167	A	T	7: 23,204,200 (GRCm39)	I272N	probably benign	Het
Vmn2r1	T	C	3: 63,994,034 (GRCm39)	S127P	possibly damaging	Het
Vtcn1	A	G	3: 100,791,145 (GRCm39)	D61G	probably benign	Het
Zfp994	A	T	17: 22,420,227 (GRCm39)	C241S	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
R5802:Srsf12	UTSW	4	33,230,929 (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
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'- GTGATCGCAAAAGTAAGTGCAC -3'
(R):5'- ATCAGCCAAGTACCTGCTCC -3'

Sequencing Primer
(F):5'- GTGCACATGACCATTAGAGCTTGC -3'
(R):5'- GCCAAGTACCTGCTCCTCCAC -3'

Posted On

2020-09-02