Mutagenetix > Incidental Mutation

Incidental Mutation 'R0890:Mesp1'

83469

Institutional Source

Beutler Lab

Gene Symbol

Mesp1

Ensembl Gene

ENSMUSG00000030544

Gene Name

mesoderm posterior 1

Synonyms

bHLHc5

MMRRC Submission

039053-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79441989-79443338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79442683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 198 (D198G)

Ref Sequence

ENSEMBL: ENSMUSP00000032760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032760]

AlphaFold

P97309

Predicted Effect

probably benign
Transcript: ENSMUST00000032760
AA Change: D198G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000032760
Gene: ENSMUSG00000030544
AA Change: D198G

Domain	Start	End	E-Value	Type
low complexity region	43	70	N/A	INTRINSIC
HLH	82	136	2.16e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206719

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,972,936 (GRCm39)	S837P	probably benign	Het
Cdh24	A	G	14: 54,870,051 (GRCm39)	V240A	probably benign	Het
Clcn4	T	C	7: 7,291,964 (GRCm39)	T556A	possibly damaging	Het
Coa7	G	A	4: 108,195,583 (GRCm39)	A171T	probably damaging	Het
Col12a1	A	T	9: 79,607,684 (GRCm39)	S381R	probably damaging	Het
Col9a3	C	T	2: 180,251,856 (GRCm39)	P335L	probably benign	Het
Dcxr	T	A	11: 120,617,297 (GRCm39)	N82I	probably damaging	Het
Dhdh	T	C	7: 45,131,395 (GRCm39)	D146G	possibly damaging	Het
Dhrs13	T	A	11: 77,925,176 (GRCm39)	L99Q	probably null	Het
Dnai1	C	T	4: 41,604,253 (GRCm39)	T220M	possibly damaging	Het
Gapvd1	T	A	2: 34,602,329 (GRCm39)	D606V	probably damaging	Het
Gcn1	T	G	5: 115,717,852 (GRCm39)	C246G	possibly damaging	Het
Gdf10	A	G	14: 33,654,113 (GRCm39)	K207E	possibly damaging	Het
Gucy2d	T	C	7: 98,122,472 (GRCm39)	V1046A	probably benign	Het
Itpr3	C	A	17: 27,307,985 (GRCm39)	Y257*	probably null	Het
Kifc5b	C	T	17: 27,141,996 (GRCm39)	T158M	possibly damaging	Het
Klra7	C	T	6: 130,195,916 (GRCm39)	D251N	probably benign	Het
Mrgprb8	T	A	7: 48,038,777 (GRCm39)	C149*	probably null	Het
Nphp4	C	A	4: 152,582,677 (GRCm39)	L169I	possibly damaging	Het
Or1j1	T	A	2: 36,702,586 (GRCm39)	T173S	probably benign	Het
Or52p2	C	A	7: 102,237,408 (GRCm39)	E181*	probably null	Het
Or5h17	T	A	16: 58,820,150 (GRCm39)	I34K	possibly damaging	Het
Pcgf5	A	T	19: 36,389,544 (GRCm39)	H7L	probably benign	Het
Polr3b	A	C	10: 84,550,200 (GRCm39)	K970T	probably benign	Het
Pomgnt1	A	G	4: 116,009,382 (GRCm39)	D93G	probably benign	Het
Rnf213	A	G	11: 119,321,312 (GRCm39)	K1256E	possibly damaging	Het
Scn9a	T	C	2: 66,314,079 (GRCm39)	T1869A	probably damaging	Het
Setdb2	A	G	14: 59,656,669 (GRCm39)	V232A	possibly damaging	Het
Sh3d21	T	C	4: 126,044,945 (GRCm39)	E578G	probably damaging	Het
Tmem168	A	T	6: 13,603,271 (GRCm39)	S32T	probably damaging	Het
Vmn1r38	T	G	6: 66,753,514 (GRCm39)	I201L	probably benign	Het
Wfs1	C	A	5: 37,132,888 (GRCm39)	W130C	probably damaging	Het

Other mutations in Mesp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Mesp1	APN	7	79,442,831 (GRCm39)	missense	probably benign	0.02
R0645:Mesp1	UTSW	7	79,442,328 (GRCm39)	missense	possibly damaging	0.76
R4990:Mesp1	UTSW	7	79,442,669 (GRCm39)	missense	probably damaging	0.99
R7136:Mesp1	UTSW	7	79,442,906 (GRCm39)	missense	probably damaging	0.99
R7939:Mesp1	UTSW	7	79,442,734 (GRCm39)	nonsense	probably null
R8790:Mesp1	UTSW	7	79,442,825 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGACAATCATCCGTTGCATTGTCCC -3'
(R):5'- AACCTGACCAAGATCGAGACGCTG -3'

Sequencing Primer
(F):5'- GCTCCACGCTCAAGGTTAAG -3'
(R):5'- GGCCATCCGCTACATTGG -3'

Posted On

2013-11-08