Mutagenetix > Incidental Mutation

Incidental Mutation 'R9778:Srf'

733872

Institutional Source

Beutler Lab

Gene Symbol

Srf

Ensembl Gene

ENSMUSG00000015605

Gene Name

serum response factor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9778 (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 A at 46860079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 482 (G482V)

Ref Sequence

ENSEMBL: ENSMUSP00000015749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015749] [ENSMUST00000066026] [ENSMUST00000182485]

AlphaFold

Q9JM73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015749
AA Change: G482V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015749
Gene: ENSMUSG00000015605
AA Change: G482V

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

probably benign
Transcript: ENSMUST00000066026

SMART Domains

Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:Cul7	367	441	1e-35	PFAM
low complexity region	447	460	N/A	INTRINSIC
low complexity region	525	540	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	873	880	N/A	INTRINSIC
APC10	1166	1325	1.97e-56	SMART
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1563	1578	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
Cullin_Nedd8	1867	1950	7.55e-6	SMART
Blast:RING	2074	2122	2e-13	BLAST
IBR	2144	2207	8.99e-14	SMART
IBR	2228	2283	4.66e-2	SMART
low complexity region	2503	2520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182485

SMART Domains

Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:Cul7	367	442	1.4e-33	PFAM
low complexity region	447	460	N/A	INTRINSIC
low complexity region	525	540	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	873	880	N/A	INTRINSIC
APC10	1166	1325	1.97e-56	SMART
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1563	1578	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
Cullin_Nedd8	1867	1950	7.55e-6	SMART
Blast:RING	2074	2122	3e-13	BLAST
IBR	2144	2207	8.99e-14	SMART
IBR	2228	2283	4.66e-2	SMART
coiled coil region	2461	2497	N/A	INTRINSIC
low complexity region	2513	2530	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,366,098 (GRCm39)	I215N	probably damaging	Het
Aig1	T	C	10: 13,528,757 (GRCm39)		probably null	Het
Atp8b2	T	A	3: 89,861,865 (GRCm39)	K82N	possibly damaging	Het
Cacnb4	T	G	2: 52,359,615 (GRCm39)	Y131S	probably damaging	Het
Cep170b	G	A	12: 112,697,864 (GRCm39)	S62N	possibly damaging	Het
Crmp1	A	G	5: 37,422,619 (GRCm39)	D142G	probably benign	Het
Csf1r	A	G	18: 61,260,957 (GRCm39)	Q716R	possibly damaging	Het
Cyp2u1	T	C	3: 131,087,133 (GRCm39)	T483A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,503,565 (GRCm39)	F247L	probably benign	Het
Dcaf13	T	C	15: 39,008,586 (GRCm39)	L396P	probably damaging	Het
Dnhd1	A	G	7: 105,353,240 (GRCm39)	M2798V	probably benign	Het
E030018B13Rik	A	T	7: 63,569,125 (GRCm39)	T58S	unknown	Het
Eipr1	T	C	12: 28,897,657 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,817,948 (GRCm39)	T526M	possibly damaging	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,128 (GRCm39)		probably null	Het
Got1	A	G	19: 43,504,284 (GRCm39)	S46P	probably benign	Het
Inpp4b	T	C	8: 82,775,160 (GRCm39)	I786T	probably benign	Het
Kdm1a	T	C	4: 136,279,892 (GRCm39)	I703M	probably damaging	Het
Krt222	A	T	11: 99,125,838 (GRCm39)	S264R	probably benign	Het
Lrrd1	A	C	5: 3,899,982 (GRCm39)	S96R	possibly damaging	Het
Ltb	C	A	17: 35,414,906 (GRCm39)	Y235*	probably null	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mlycd	T	A	8: 120,129,325 (GRCm39)	I264N	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Muc5ac	A	T	7: 141,349,021 (GRCm39)	K487*	probably null	Het
Myh13	T	C	11: 67,249,016 (GRCm39)	I1274T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Ncf1	T	A	5: 134,258,444 (GRCm39)		probably benign	Het
Nipbl	C	A	15: 8,321,032 (GRCm39)	A2692S	probably benign	Het
Odf2l	C	T	3: 144,854,789 (GRCm39)	T542I	possibly damaging	Het
Or10a49	A	G	7: 108,467,698 (GRCm39)	I221T	probably damaging	Het
Or10al2	T	A	17: 37,983,145 (GRCm39)	I77N	probably damaging	Het
Oxsm	T	C	14: 16,242,629 (GRCm38)	T47A	possibly damaging	Het
Pcdhga3	A	T	18: 37,807,786 (GRCm39)	S80C	probably benign	Het
Pcnx2	T	C	8: 126,512,176 (GRCm39)	T1377A	probably benign	Het
Phactr3	C	A	2: 177,924,805 (GRCm39)	Q252K	possibly damaging	Het
Phf2	T	C	13: 48,973,101 (GRCm39)	H385R	unknown	Het
Pkd1l3	A	T	8: 110,357,937 (GRCm39)	T820S	probably benign	Het
Plekhg1	T	A	10: 3,887,966 (GRCm39)	H353Q		Het
Prss37	T	A	6: 40,494,713 (GRCm39)	E24V	probably damaging	Het
Reln	A	G	5: 22,155,943 (GRCm39)	F2183S	probably damaging	Het
Slc20a2	A	G	8: 23,051,407 (GRCm39)	D480G	probably damaging	Het
Slc8a2	C	T	7: 15,887,124 (GRCm39)	T672M	probably damaging	Het
Slf2	A	G	19: 44,961,666 (GRCm39)	T1062A	probably benign	Het
Snx29	A	G	16: 11,223,609 (GRCm39)	E18G	possibly damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Styk1	G	A	6: 131,287,992 (GRCm39)	Q124*	probably null	Het
Tcf7l1	G	T	6: 72,608,226 (GRCm39)	A385E	probably damaging	Het
Thbs4	A	G	13: 92,913,495 (GRCm39)	S142P	probably benign	Het
Tlr1	G	A	5: 65,083,371 (GRCm39)	S402F	probably damaging	Het
Tnrc6a	A	G	7: 122,769,635 (GRCm39)	H475R	probably benign	Het
Trmt10b	A	T	4: 45,314,374 (GRCm39)	N272I	probably damaging	Het
Ubxn7	A	T	16: 32,200,471 (GRCm39)	N409I	probably benign	Het
Vcan	T	C	13: 89,837,930 (GRCm39)	E2538G	probably damaging	Het
Vmn1r65	C	T	7: 6,011,387 (GRCm39)	W282*	probably null	Het
Vmn2r4	A	G	3: 64,322,497 (GRCm39)	I74T	probably benign	Het
Wdr97	T	A	15: 76,241,125 (GRCm39)	F574I		Het
Zfp949	T	C	9: 88,449,340 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGAGGGCATAGTCCTGTG -3'
(R):5'- CTGGGCAAGTACTAGAACGG -3'

Sequencing Primer
(F):5'- ATAGTCCTGTGGCTGCCC -3'
(R):5'- TACTAGAACGGCAGGCCAGC -3'

Posted On

2022-11-14