Mutagenetix > Incidental Mutation

Incidental Mutation 'R5719:Hes7'

451365

Institutional Source

Beutler Lab

Gene Symbol

Hes7

Ensembl Gene

ENSMUSG00000023781

Gene Name

hes family bHLH transcription factor 7

Synonyms

bHLHb37

MMRRC Submission

043339-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.750) question?

Stock #

R5719 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

69011230-69014881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69012415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 41 (E41G)

Ref Sequence

ENSEMBL: ENSMUSP00000024543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021268] [ENSMUST00000024543] [ENSMUST00000175661] [ENSMUST00000180487]

AlphaFold

Q8BKT2

Predicted Effect

probably benign
Transcript: ENSMUST00000021268

SMART Domains

Protein: ENSMUSP00000021268
Gene: ENSMUSG00000020892

Domain	Start	End	E-Value	Type
LH2	2	116	1.93e-20	SMART
Pfam:Lipoxygenase	249	697	3.4e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000024543
AA Change: E41G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024543
Gene: ENSMUSG00000023781
AA Change: E41G

Domain	Start	End	E-Value	Type
HLH	18	75	2.01e-5	SMART
low complexity region	137	152	N/A	INTRINSIC
low complexity region	188	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155324

Predicted Effect

probably benign
Transcript: ENSMUST00000175661

SMART Domains

Protein: ENSMUSP00000134814
Gene: ENSMUSG00000020892

Domain	Start	End	E-Value	Type
LH2	2	116	1.93e-20	SMART
Pfam:Lipoxygenase	245	377	7.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180487

SMART Domains

Protein: ENSMUSP00000137894
Gene: ENSMUSG00000097386

Domain	Start	End	E-Value	Type
low complexity region	31	40	N/A	INTRINSIC
transmembrane domain	87	109	N/A	INTRINSIC

Meta Mutation Damage Score

0.1688

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted somite formation leading to skeletal defects including short trunk and tail, reduced numbers of ribs, and deformed and fused vertebrae, and neonatal death. Some heterozygotes have tail kinks. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130051J06Rik	C	T	15: 95,688,641 (GRCm39)		probably benign	Het
A630001G21Rik	T	A	1: 85,651,106 (GRCm39)	R110W	probably benign	Het
Abca4	T	C	3: 121,928,915 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,241,894 (GRCm39)	N1379S	probably damaging	Het
Actrt3	A	C	3: 30,652,276 (GRCm39)	F273V	probably benign	Het
Adam22	T	C	5: 8,417,217 (GRCm39)	D75G	probably benign	Het
Ash1l	C	A	3: 88,961,805 (GRCm39)	D2392E	possibly damaging	Het
Ash1l	T	C	3: 88,965,933 (GRCm39)	I2445T	probably damaging	Het
Bltp2	T	A	11: 78,164,071 (GRCm39)	H1137Q	probably damaging	Het
Cacna2d2	A	G	9: 107,401,851 (GRCm39)	I762V	probably benign	Het
Ccdc127	T	A	13: 74,505,187 (GRCm39)		probably benign	Het
Ccdc91	C	G	6: 147,477,001 (GRCm39)	L230V	unknown	Het
Cdk13	A	G	13: 17,894,240 (GRCm39)	I1129T	probably damaging	Het
Cnot1	C	T	8: 96,470,924 (GRCm39)	R1308H	possibly damaging	Het
Crhr2	T	C	6: 55,080,207 (GRCm39)	H144R	probably damaging	Het
Dnmt1	T	C	9: 20,823,891 (GRCm39)	N993S	possibly damaging	Het
Eif4g1	T	A	16: 20,507,761 (GRCm39)	V1182D	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam234a	T	A	17: 26,433,627 (GRCm39)	Q399L	possibly damaging	Het
Fyb1	A	T	15: 6,610,350 (GRCm39)	K308*	probably null	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm10309	A	T	17: 86,806,421 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5501	G	A	18: 9,917,417 (GRCm39)		noncoding transcript	Het
Gm6309	A	T	5: 146,104,992 (GRCm39)	V307D	probably benign	Het
Gm9871	T	A	6: 101,773,148 (GRCm39)		noncoding transcript	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Herc3	T	A	6: 58,871,528 (GRCm39)	V70E	possibly damaging	Het
Ifi27l2b	T	C	12: 103,422,046 (GRCm39)	D106G	unknown	Het
Igfbp6	A	T	15: 102,056,616 (GRCm39)	Y184F	probably damaging	Het
Isyna1	A	G	8: 71,047,352 (GRCm39)	Y25C	probably damaging	Het
Kcng3	G	T	17: 83,938,563 (GRCm39)	T162K	possibly damaging	Het
Krt36	T	C	11: 99,994,987 (GRCm39)	D195G	possibly damaging	Het
Lrwd1	A	T	5: 136,161,093 (GRCm39)		probably null	Het
Lsg1	C	T	16: 30,380,593 (GRCm39)	A615T	probably benign	Het
Myo5a	A	T	9: 75,059,213 (GRCm39)	E480D	probably damaging	Het
Myrf	T	A	19: 10,194,087 (GRCm39)	D690V	probably damaging	Het
N4bp1	T	C	8: 87,578,312 (GRCm39)	I684M	probably damaging	Het
Nlrc3	C	T	16: 3,781,589 (GRCm39)	A607T	probably damaging	Het
Nuak1	A	T	10: 84,245,584 (GRCm39)	I87N	probably damaging	Het
Odad2	G	T	18: 7,211,496 (GRCm39)	Q793K	probably benign	Het
Or5p66	T	G	7: 107,885,599 (GRCm39)	T245P	probably damaging	Het
Or5w11	T	C	2: 87,459,475 (GRCm39)		probably null	Het
Or8b4	A	T	9: 37,830,647 (GRCm39)	E236D	probably damaging	Het
Osbpl9	T	A	4: 108,919,763 (GRCm39)	R689*	probably null	Het
Ppargc1b	T	A	18: 61,440,639 (GRCm39)	M744L	probably benign	Het
Prss40	A	T	1: 34,591,598 (GRCm39)		probably benign	Het
Ptprd	T	A	4: 75,972,839 (GRCm39)		probably null	Het
Rft1	T	C	14: 30,385,183 (GRCm39)		probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rnaset2a	T	C	17: 8,350,879 (GRCm39)	Y167C	probably damaging	Het
Schip1	T	C	3: 68,315,560 (GRCm39)		probably benign	Het
Scn5a	A	C	9: 119,359,118 (GRCm39)	L643R	possibly damaging	Het
Shroom3	T	A	5: 93,090,877 (GRCm39)	M1128K	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc14a2	A	G	18: 78,252,257 (GRCm39)	L18P	probably benign	Het
Slc22a3	C	T	17: 12,642,691 (GRCm39)	V509M	probably damaging	Het
Slc7a5	A	C	8: 122,610,381 (GRCm39)	F478V	probably benign	Het
Smc1b	T	A	15: 84,980,859 (GRCm39)	N803I	probably benign	Het
Snf8	T	A	11: 95,932,551 (GRCm39)	N115K	probably damaging	Het
Stox2	T	A	8: 47,866,172 (GRCm39)	K57*	probably null	Het
Tmem248	T	A	5: 130,258,429 (GRCm39)	F41I	probably damaging	Het
Tmprss7	T	C	16: 45,506,793 (GRCm39)	S90G	probably damaging	Het
Top3b	T	C	16: 16,703,700 (GRCm39)	V285A	probably damaging	Het
Tsen15	T	C	1: 152,247,534 (GRCm39)	T153A	probably damaging	Het
Usp34	T	G	11: 23,304,846 (GRCm39)	S360A	probably benign	Het
Wdr24	T	C	17: 26,047,314 (GRCm39)		probably null	Het
Zbtb2	G	A	10: 4,319,456 (GRCm39)	T190I	probably benign	Het
Zranb3	T	C	1: 127,891,613 (GRCm39)	S788G	probably benign	Het

Other mutations in Hes7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
entrapped	UTSW	11	69,012,352 (GRCm39)	missense	unknown
R7721:Hes7	UTSW	11	69,012,352 (GRCm39)	missense	unknown
R8031:Hes7	UTSW	11	69,013,591 (GRCm39)	missense	probably damaging	1.00
R9025:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign
R9502:Hes7	UTSW	11	69,013,711 (GRCm39)	missense	probably benign	0.12
Z1186:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign
Z1187:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign
Z1188:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign
Z1189:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign
Z1190:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign
Z1191:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign
Z1192:Hes7	UTSW	11	69,013,782 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTTTCCCAGCGGCAGGATC -3'
(R):5'- AGGCTGGAAGCTCAGTTTACC -3'

Sequencing Primer
(F):5'- AGGATCGGACGCTTGCG -3'
(R):5'- TCAGTTTACCGAGCCAGACTG -3'

Posted On

2017-01-03