Mutagenetix > Incidental Mutation

Incidental Mutation 'R4498:Hes3'

331689

Institutional Source

Beutler Lab

Gene Symbol

Hes3

Ensembl Gene

ENSMUSG00000028946

Gene Name

hes family bHLH transcription factor 3

Synonyms

bHLHb43

MMRRC Submission

041751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R4498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152370429-152376119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152371542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 136 (T136A)

Ref Sequence

ENSEMBL: ENSMUSP00000151815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055754] [ENSMUST00000094438] [ENSMUST00000105650] [ENSMUST00000105651] [ENSMUST00000218045]

AlphaFold

Q61657

Predicted Effect

probably benign
Transcript: ENSMUST00000055754

SMART Domains

Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	298	1.2e-14	PFAM
low complexity region	501	518	N/A	INTRINSIC
low complexity region	605	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094438
AA Change: T111A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092006
Gene: ENSMUSG00000028946
AA Change: T111A

Domain	Start	End	E-Value	Type
HLH	1	55	3.83e-11	SMART
low complexity region	129	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105650

SMART Domains

Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	297	5.4e-18	PFAM
low complexity region	478	495	N/A	INTRINSIC
low complexity region	582	594	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105651

SMART Domains

Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	297	5.3e-17	PFAM
low complexity region	501	518	N/A	INTRINSIC
low complexity region	605	617	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144035

Predicted Effect

probably benign
Transcript: ENSMUST00000218045
AA Change: T136A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

91% (53/58)

MGI Phenotype

PHENOTYPE: Homozygous null mice are fertile and display no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	G	A	15: 81,779,486 (GRCm39)	A97T	probably damaging	Het
Acot9	T	A	X: 154,047,064 (GRCm39)	L18*	probably null	Het
Arhgap12	A	T	18: 6,111,774 (GRCm39)	C69S	probably damaging	Het
Ccdc17	G	T	4: 116,454,438 (GRCm39)		probably benign	Het
Ctnnd2	A	C	15: 30,620,020 (GRCm39)	D124A	probably damaging	Het
Cux1	T	C	5: 136,341,847 (GRCm39)	N424S	probably damaging	Het
Dhrs7c	T	C	11: 67,706,706 (GRCm39)	F214S	possibly damaging	Het
Fat2	T	C	11: 55,160,923 (GRCm39)	D3269G	possibly damaging	Het
Fhod3	T	A	18: 25,243,296 (GRCm39)		probably null	Het
Glul	G	T	1: 153,782,849 (GRCm39)	G187*	probably null	Het
Gnmt	ATTAGGGGATGGTCTTAGGG	ATTAGGG	17: 47,036,662 (GRCm39)	294	probably benign	Het
H2-Q7	A	T	17: 35,658,506 (GRCm39)	Y48F	probably damaging	Het
Krt40	T	C	11: 99,433,900 (GRCm39)	T29A	possibly damaging	Het
Lrrc37a	C	A	11: 103,392,624 (GRCm39)	D934Y	probably benign	Het
Mctp2	T	A	7: 71,833,599 (GRCm39)	D581V	probably damaging	Het
Med27	T	C	2: 29,361,354 (GRCm39)	S38P	probably damaging	Het
Mff	A	G	1: 82,719,501 (GRCm39)		probably benign	Het
Mmadhc	T	C	2: 50,170,236 (GRCm39)	K292R	probably benign	Het
Mmp24	A	G	2: 155,655,908 (GRCm39)	I449V	possibly damaging	Het
Mthfd1	G	T	12: 76,361,764 (GRCm39)	L123F	probably damaging	Het
Mug2	T	A	6: 122,059,711 (GRCm39)	L1363Q	probably damaging	Het
Myh4	T	C	11: 67,142,578 (GRCm39)	I913T	probably damaging	Het
Myo16	T	A	8: 10,485,869 (GRCm39)	N649K	probably benign	Het
Myo7b	A	G	18: 32,147,282 (GRCm39)	I87T	probably benign	Het
Ndst4	A	G	3: 125,232,007 (GRCm39)	D192G	probably damaging	Het
Nup155	A	G	15: 8,183,157 (GRCm39)	D1239G	possibly damaging	Het
Or5b21	T	C	19: 12,840,033 (GRCm39)	V298A	probably damaging	Het
Or7e173	G	C	9: 19,939,029 (GRCm39)	N68K	possibly damaging	Het
Phf10	T	A	17: 15,165,377 (GRCm39)	N493I	probably benign	Het
Pramel32	A	T	4: 88,547,129 (GRCm39)		probably null	Het
Prr12	T	C	7: 44,695,338 (GRCm39)	E1376G	unknown	Het
Rasa3	T	C	8: 13,664,587 (GRCm39)	H75R	probably benign	Het
Rin3	G	A	12: 102,335,939 (GRCm39)	V537M	probably damaging	Het
Samd4	C	T	14: 47,333,566 (GRCm39)	T272I	probably damaging	Het
Septin5	C	T	16: 18,442,142 (GRCm39)	G257D	probably damaging	Het
Serpina6	T	C	12: 103,620,326 (GRCm39)	K141R	probably benign	Het
Siglecf	T	A	7: 43,001,700 (GRCm39)	I170N	possibly damaging	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Stk40	G	A	4: 126,023,544 (GRCm39)		probably null	Het
Syne1	A	G	10: 4,981,768 (GRCm39)	S8700P	probably benign	Het
Tbc1d4	C	T	14: 101,845,772 (GRCm39)	G42E	probably damaging	Het
Tfap2c	C	T	2: 172,399,102 (GRCm39)	Q425*	probably null	Het
Tmem255b	T	C	8: 13,505,998 (GRCm39)	S202P	probably damaging	Het
Traf6	T	C	2: 101,514,891 (GRCm39)	S16P	probably benign	Het
Ttc12	A	G	9: 49,383,705 (GRCm39)	I66T	probably damaging	Het
Ttc21a	G	A	9: 119,787,885 (GRCm39)	D818N	possibly damaging	Het
Zfp81	A	T	17: 33,553,677 (GRCm39)	I379N	possibly damaging	Het
Zgrf1	C	A	3: 127,379,749 (GRCm39)	S211*	probably null	Het

Other mutations in Hes3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01834:Hes3	APN	4	152,371,557 (GRCm39)	missense	probably damaging	0.97
IGL02426:Hes3	APN	4	152,371,397 (GRCm39)	missense	probably benign	0.01
R4696:Hes3	UTSW	4	152,372,124 (GRCm39)	missense	probably damaging	1.00
R4784:Hes3	UTSW	4	152,372,289 (GRCm39)	missense	probably damaging	1.00
R5042:Hes3	UTSW	4	152,371,500 (GRCm39)	missense	possibly damaging	0.90
R6874:Hes3	UTSW	4	152,371,695 (GRCm39)	missense	possibly damaging	0.65
R6993:Hes3	UTSW	4	152,371,380 (GRCm39)	missense	probably benign
R7157:Hes3	UTSW	4	152,372,581 (GRCm39)	start gained	probably benign
R8011:Hes3	UTSW	4	152,371,938 (GRCm39)	intron	probably benign
R8223:Hes3	UTSW	4	152,371,572 (GRCm39)	missense	probably damaging	1.00
R8738:Hes3	UTSW	4	152,372,132 (GRCm39)	missense	probably damaging	1.00
R8970:Hes3	UTSW	4	152,376,036 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTGAGTCTAAATCCTTGCC -3'
(R):5'- CCACTGAGGAGAGCATCTTATTTC -3'

Sequencing Primer
(F):5'- GAGTCTAAATCCTTGCCTACGTC -3'
(R):5'- CTGAGGAGAGCATCTTATTTCTTGTC -3'

Posted On

2015-07-21