Mutagenetix > Incidental Mutation

Incidental Mutation 'R8366:Srsf12'

646167

Institutional Source

Beutler Lab

Gene Symbol

Srsf12

Ensembl Gene

ENSMUSG00000054679

Gene Name

serine/arginine-rich splicing factor 12

Synonyms

Sfrs13b, Srrp

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33208991-33233340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 33226070 bp (GRCm38)

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: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,176,695	Q590*	probably null	Het
9130011E15Rik	T	C	19: 45,932,354	Y468C	probably damaging	Het
Adnp2	T	C	18: 80,130,510	D228G	probably damaging	Het
Adrb2	T	A	18: 62,178,704	Y350F	probably benign	Het
Agbl4	T	C	4: 111,566,664	S296P	probably damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Ampd1	A	T	3: 103,088,494	D240V	probably damaging	Het
Carmil2	A	G	8: 105,693,075	S838G	probably benign	Het
Cdh23	A	G	10: 60,325,020	F2056L	probably benign	Het
Cyp4x1	A	T	4: 115,112,866	S381T	probably benign	Het
Ddx20	A	G	3: 105,687,379	S17P	probably benign	Het
Dlgap4	C	A	2: 156,700,774	Y32*	probably null	Het
Dmbt1	T	C	7: 131,066,600	F529L	unknown	Het
Ei24	A	G	9: 36,786,504	S117P	possibly damaging	Het
Esyt1	T	G	10: 128,516,553	N730H	possibly damaging	Het
Gcfc2	A	G	6: 81,923,801	E32G	probably benign	Het
Lama1	T	C	17: 67,818,704	I2952T		Het
Mkrn3	A	T	7: 62,419,795	S83T	probably benign	Het
Ncoa2	T	A	1: 13,180,606	D284V	probably damaging	Het
Olfr1490	A	G	19: 13,654,539	S37G	probably damaging	Het
Osmr	T	A	15: 6,820,954	T724S	possibly damaging	Het
Pex1	A	G	5: 3,626,007	E825G	probably benign	Het
Ranbp6	A	G	19: 29,811,899	L351P	probably damaging	Het
Rbm20	C	T	19: 53,850,181	T863I	possibly damaging	Het
Rcbtb2	T	C	14: 73,207,192	S506P	probably benign	Het
Rdh12	T	A	12: 79,211,514	I105N	probably damaging	Het
Ror1	A	G	4: 100,409,998	I299V	possibly damaging	Het
Rpap3	C	T	15: 97,681,667	R488K	probably benign	Het
Rps6kb1	A	C	11: 86,511,829	V346G	probably damaging	Het
Setd2	T	C	9: 110,548,748	S544P	probably damaging	Het
Sis	A	T	3: 72,958,233	V162E	probably damaging	Het
Slc16a10	A	G	10: 40,076,871	V209A	probably benign	Het
Teddm2	G	T	1: 153,850,829	H47N	probably damaging	Het
Tmem74	C	T	15: 43,866,919	G243R	probably damaging	Het
Trmt10c	C	T	16: 56,034,063	R403Q	probably benign	Het
Vps11	A	T	9: 44,355,755	Y394*	probably null	Het
Zscan10	G	T	17: 23,609,978	R498L	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
R0704:Srsf12	UTSW	4	33231069	missense	probably damaging	0.99
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
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'- AGTAAGTGCACATGACCATTAGAG -3'
(R):5'- ATCAGCCAAGTACCTGCTCC -3'

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

Posted On

2020-09-02