Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Srf'

552489

Institutional Source

Beutler Lab

Gene Symbol

Srf

Ensembl Gene

ENSMUSG00000015605

Gene Name

serum response factor

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46859255-46867101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46866372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 128 (S128N)

Ref Sequence

ENSEMBL: ENSMUSP00000015749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015749]

AlphaFold

Q9JM73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015749
AA Change: S128N

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015749
Gene: ENSMUSG00000015605
AA Change: S128N

Domain	Start	End	E-Value	Type
low complexity region	6	46	N/A	INTRINSIC
low complexity region	60	70	N/A	INTRINSIC
low complexity region	73	90	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC
MADS	137	196	3.08e-28	SMART
low complexity region	217	229	N/A	INTRINSIC
Blast:MADS	256	289	3e-11	BLAST
low complexity region	300	314	N/A	INTRINSIC
internal_repeat_1	335	360	6.39e-6	PROSPERO
low complexity region	368	383	N/A	INTRINSIC
internal_repeat_1	450	473	6.39e-6	PROSPERO

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality, abnormal gastrulation, no mesoderm or primitive streak formation and reduced embryo size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,347,985 (GRCm39)	D25G	probably benign	Het
Ak9	T	C	10: 41,300,713 (GRCm39)	V1641A	unknown	Het
Akirin2	T	C	4: 34,562,435 (GRCm39)	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,540,361 (GRCm39)	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,326,971 (GRCm39)	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,553,063 (GRCm39)	R93*	probably null	Het
Brd10	T	C	19: 29,693,881 (GRCm39)	T1871A	possibly damaging	Het
Catsper3	A	G	13: 55,946,662 (GRCm39)	I120V	probably benign	Het
Cavin2	A	G	1: 51,328,579 (GRCm39)	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,417,188 (GRCm39)	F39Y	probably damaging	Het
Chfr	T	C	5: 110,291,502 (GRCm39)	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Defb4	T	A	8: 19,251,220 (GRCm39)	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,566,645 (GRCm39)	T619A	probably benign	Het
Duxf1	T	C	10: 58,059,479 (GRCm39)	Q425R	unknown	Het
Emc3	A	G	6: 113,494,881 (GRCm39)	L179P	probably damaging	Het
Eno3	G	C	11: 70,549,430 (GRCm39)	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,812,642 (GRCm39)	V43M	probably damaging	Het
Fbxo30	T	A	10: 11,165,860 (GRCm39)	L194*	probably null	Het
Galnt14	T	C	17: 73,852,096 (GRCm39)	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601 (GRCm39)	I51T	probably benign	Het
Gm1527	C	T	3: 28,969,460 (GRCm39)	S270F	possibly damaging	Het
Gm3336	A	G	8: 71,171,203 (GRCm39)	M1V	probably null	Het
Gm4744	T	C	6: 40,927,310 (GRCm39)	D15G		Het
Gm4924	G	A	10: 82,214,533 (GRCm39)	C777Y	unknown	Het
Gm5901	G	A	7: 105,027,408 (GRCm39)	G306S	probably damaging	Het
Gon4l	T	A	3: 88,802,999 (GRCm39)	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,138,026 (GRCm39)	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,236,326 (GRCm39)	E1285G	probably benign	Het
Irx6	T	C	8: 93,403,994 (GRCm39)	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,322,089 (GRCm39)	Y117H	probably benign	Het
Itln1	C	A	1: 171,358,143 (GRCm39)	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,975,972 (GRCm39)	S242P	probably benign	Het
Lrrk2	A	G	15: 91,686,088 (GRCm39)	H2143R	probably benign	Het
Lynx1	G	A	15: 74,623,398 (GRCm39)	R50*	probably null	Het
Lypd11	C	T	7: 24,425,424 (GRCm39)		probably null	Het
Map10	A	G	8: 126,398,592 (GRCm39)	I662V	probably benign	Het
Mlxipl	T	C	5: 135,162,705 (GRCm39)	L691P	probably damaging	Het
Muc16	A	G	9: 18,554,300 (GRCm39)	S3998P	unknown	Het
Nalcn	A	T	14: 123,831,914 (GRCm39)	V120E	probably damaging	Het
Nfat5	T	C	8: 108,085,323 (GRCm39)	S539P	probably benign	Het
Olfml3	T	C	3: 103,644,484 (GRCm39)	M62V	probably benign	Het
Orm3	T	C	4: 63,276,062 (GRCm39)	V158A	probably benign	Het
Pakap	T	C	4: 57,855,816 (GRCm39)	S382P	probably benign	Het
Pced1b	A	T	15: 97,282,479 (GRCm39)	K173*	probably null	Het
Pdzd7	T	C	19: 45,016,388 (GRCm39)	D911G	probably damaging	Het
Pkn3	A	G	2: 29,973,327 (GRCm39)	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,725,292 (GRCm39)	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,719,842 (GRCm39)	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,515,364 (GRCm39)	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,661,911 (GRCm39)	N30S	probably benign	Het
Shisal2a	G	T	4: 108,225,100 (GRCm39)	T154K	probably benign	Het
Slfn3	T	A	11: 83,105,721 (GRCm39)	C573S	probably benign	Het
Smc6	A	G	12: 11,351,632 (GRCm39)	E887G	probably damaging	Het
Sp140	A	T	1: 85,547,846 (GRCm39)	D191V	possibly damaging	Het
Sult6b1	T	C	17: 79,202,070 (GRCm39)	D144G	probably damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Syt10	A	T	15: 89,698,314 (GRCm39)	D343E	probably damaging	Het
Tgtp2	G	A	11: 48,950,135 (GRCm39)	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,266,496 (GRCm39)		probably benign	Het
Tnfrsf1a	A	T	6: 125,338,499 (GRCm39)	T337S	probably benign	Het
Tns1	A	T	1: 74,034,463 (GRCm39)	I144N		Het
Trim11	A	G	11: 58,869,103 (GRCm39)	E13G	probably damaging	Het
Trpm6	A	T	19: 18,789,137 (GRCm39)	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,576,569 (GRCm39)	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,820,936 (GRCm39)	N169K	probably damaging	Het
Vmn2r60	C	T	7: 41,844,536 (GRCm39)	T633I	probably damaging	Het
Wt1	T	C	2: 104,957,670 (GRCm39)	Y177H	probably benign	Het

Other mutations in Srf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01836:Srf	APN	17	46,860,108 (GRCm39)	unclassified	probably benign
IGL02448:Srf	APN	17	46,866,349 (GRCm39)	missense	possibly damaging	0.47
R0277:Srf	UTSW	17	46,860,415 (GRCm39)	missense	possibly damaging	0.54
R0323:Srf	UTSW	17	46,860,415 (GRCm39)	missense	possibly damaging	0.54
R1633:Srf	UTSW	17	46,862,534 (GRCm39)	missense	probably damaging	1.00
R1807:Srf	UTSW	17	46,864,685 (GRCm39)	missense	possibly damaging	0.88
R1930:Srf	UTSW	17	46,860,912 (GRCm39)	missense	probably damaging	1.00
R1932:Srf	UTSW	17	46,860,912 (GRCm39)	missense	probably damaging	1.00
R1951:Srf	UTSW	17	46,862,633 (GRCm39)	missense	possibly damaging	0.94
R4851:Srf	UTSW	17	46,860,400 (GRCm39)	missense	probably benign	0.33
R7017:Srf	UTSW	17	46,861,830 (GRCm39)	missense	probably benign	0.18
R7177:Srf	UTSW	17	46,866,318 (GRCm39)	missense	probably damaging	0.99
R7315:Srf	UTSW	17	46,862,720 (GRCm39)	critical splice acceptor site	probably null
R8019:Srf	UTSW	17	46,866,748 (GRCm39)	missense	unknown
R8678:Srf	UTSW	17	46,861,825 (GRCm39)	critical splice donor site	probably null
R8927:Srf	UTSW	17	46,860,095 (GRCm39)	missense	probably damaging	1.00
R8928:Srf	UTSW	17	46,860,095 (GRCm39)	missense	probably damaging	1.00
R9710:Srf	UTSW	17	46,866,271 (GRCm39)	missense	probably benign	0.29
R9778:Srf	UTSW	17	46,860,079 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ACACACCTCCTGCGGACTAG -3'
(R):5'- GCCATGTTACCGAGCCAAG -3'

Sequencing Primer
(F):5'- GCTACCTTAGAGCGCACC -3'
(R):5'- AGAGTCGTCTGGAGCGG -3'

Posted On

2019-05-15