Mutagenetix > Incidental Mutation

Incidental Mutation 'R1807:Srf'

203570

Institutional Source

Beutler Lab

Gene Symbol

Srf

Ensembl Gene

ENSMUSG00000015605

Gene Name

serum response factor

Synonyms

MMRRC Submission

039836-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46859255-46867101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46864685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 190 (V190A)

Ref Sequence

ENSEMBL: ENSMUSP00000015749 (fasta)

Gene Model

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

AlphaFold

Q9JM73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015749
AA Change: V190A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015749
Gene: ENSMUSG00000015605
AA Change: V190A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199897

Meta Mutation Damage Score

0.8902

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.7%

Validation Efficiency

97% (77/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	T	17: 36,205,961 (GRCm39)	W27*	probably null	Het
4933430I17Rik	T	A	4: 62,460,993 (GRCm39)	Y289*	probably null	Het
A3galt2	A	G	4: 128,661,394 (GRCm39)	I348V	probably benign	Het
Abca13	A	G	11: 9,241,755 (GRCm39)	Y1206C	probably damaging	Het
Adar	T	C	3: 89,642,172 (GRCm39)	S18P	probably benign	Het
Akr1cl	T	C	1: 65,061,106 (GRCm39)	D139G	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,873 (GRCm39)	Y137C	possibly damaging	Het
Arsa	T	C	15: 89,359,525 (GRCm39)	M86V	possibly damaging	Het
Atg9b	C	A	5: 24,592,055 (GRCm39)	R648L	probably damaging	Het
Atrn	A	G	2: 130,824,692 (GRCm39)	N1042S	possibly damaging	Het
Ccdc6	T	A	10: 70,010,989 (GRCm39)	D325E	possibly damaging	Het
Cdk12	T	C	11: 98,101,203 (GRCm39)	S354P	unknown	Het
Chst3	T	A	10: 60,022,130 (GRCm39)	Y239F	probably benign	Het
Cilp2	C	A	8: 70,334,844 (GRCm39)	R718L	probably damaging	Het
Col27a1	A	G	4: 63,249,586 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,616,137 (GRCm39)	N266S	probably benign	Het
Ctnnd2	T	C	15: 30,620,017 (GRCm39)	V123A	probably damaging	Het
Cyria	G	A	12: 12,411,505 (GRCm39)	R123Q	probably benign	Het
D7Ertd443e	T	A	7: 133,895,034 (GRCm39)	E552V	probably null	Het
Dcst1	T	A	3: 89,260,848 (GRCm39)	H516L	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Drd2	C	T	9: 49,316,367 (GRCm39)	L376F	probably damaging	Het
Edn1	A	G	13: 42,460,270 (GRCm39)	N175S	probably damaging	Het
Eipr1	G	T	12: 28,816,838 (GRCm39)	G65V	probably damaging	Het
Epha4	G	A	1: 77,351,541 (GRCm39)	P905S	probably benign	Het
Erbb2	T	C	11: 98,319,680 (GRCm39)	Y591H	probably damaging	Het
Fam135b	G	A	15: 71,335,761 (GRCm39)	R478C	probably benign	Het
Fat2	T	C	11: 55,180,085 (GRCm39)	T1419A	probably damaging	Het
Flnb	C	T	14: 7,934,645 (GRCm38)	T2239I	probably benign	Het
Gm7713	T	C	15: 59,866,320 (GRCm39)		noncoding transcript	Het
Hsf5	C	T	11: 87,548,168 (GRCm39)	P617L	probably benign	Het
Kcnk12	C	A	17: 88,053,468 (GRCm39)	R398L	probably benign	Het
Kif21b	T	A	1: 136,075,531 (GRCm39)	N219K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra5	A	T	6: 129,876,383 (GRCm39)	F141L	probably benign	Het
Lmtk3	C	T	7: 45,442,702 (GRCm39)	P462S	probably benign	Het
Mast2	A	G	4: 116,167,938 (GRCm39)		probably benign	Het
Me1	T	A	9: 86,532,932 (GRCm39)	T197S	probably damaging	Het
Msr1	T	A	8: 40,072,948 (GRCm39)	Q267L	probably benign	Het
Nfic	T	C	10: 81,240,819 (GRCm39)	T328A	probably benign	Het
Nphp3	G	A	9: 103,897,940 (GRCm39)	D390N	probably benign	Het
Nr2e1	T	A	10: 42,458,905 (GRCm39)		probably null	Het
Nt5el	A	T	13: 105,218,744 (GRCm39)	Q26L	probably benign	Het
Or52e19b	T	A	7: 103,032,790 (GRCm39)	N140Y	probably benign	Het
Or5t9	T	A	2: 86,659,445 (GRCm39)	F116L	probably benign	Het
Pard6b	T	C	2: 167,929,332 (GRCm39)	L46P	probably damaging	Het
Prkaa1	T	A	15: 5,173,436 (GRCm39)	L20Q	probably damaging	Het
Rapgefl1	T	C	11: 98,736,815 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,785,941 (GRCm39)	K611E	possibly damaging	Het
Rexo1	A	T	10: 80,378,413 (GRCm39)	I1180N	possibly damaging	Het
Rnf26rt	A	G	6: 76,474,397 (GRCm39)	V73A	probably benign	Het
Rph3a	T	C	5: 121,083,456 (GRCm39)	N605D	probably damaging	Het
Sema6a	A	G	18: 47,409,491 (GRCm39)	V592A	possibly damaging	Het
Skint11	A	T	4: 114,051,893 (GRCm39)	R80S	probably benign	Het
Smpdl3a	C	A	10: 57,677,118 (GRCm39)	P72H	probably damaging	Het
Sobp	T	G	10: 43,036,822 (GRCm39)	M39L	possibly damaging	Het
Sparcl1	T	A	5: 104,233,627 (GRCm39)	Y574F	probably damaging	Het
Spns3	C	T	11: 72,429,166 (GRCm39)	W206*	probably null	Het
Stag1	T	G	9: 100,790,719 (GRCm39)	H742Q	probably benign	Het
Strn3	A	T	12: 51,673,986 (GRCm39)	S542T	probably benign	Het
Synpo2	T	C	3: 122,873,906 (GRCm39)	E1020G	possibly damaging	Het
Tcerg1l	T	A	7: 137,996,826 (GRCm39)	H137L	probably benign	Het
Tlr12	A	T	4: 128,511,229 (GRCm39)	D340E	probably benign	Het
Tmem130	T	A	5: 144,692,174 (GRCm39)	T77S	probably benign	Het
Tmem143	C	A	7: 45,547,037 (GRCm39)	R68S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Trem1	G	T	17: 48,548,663 (GRCm39)	G67*	probably null	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Txndc9	A	T	1: 38,033,096 (GRCm39)	H95Q	probably damaging	Het
Yju2b	C	T	8: 84,986,936 (GRCm39)	R187Q	probably damaging	Het
Zfp35	T	A	18: 24,136,986 (GRCm39)	N443K	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
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
R7128:Srf	UTSW	17	46,866,372 (GRCm39)	missense	possibly damaging	0.88
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'- AAACACACCTTGGTTTCCCC -3'
(R):5'- ATAGGACCCTGCTACAGTCC -3'

Sequencing Primer
(F):5'- TGTCAGATTCCGACACCTGGTAG -3'
(R):5'- CTGCTACAGTCCCTAGAGAGATAG -3'

Posted On

2014-06-23