Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02426:Hes3'

292921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hes3

Ensembl Gene

ENSMUSG00000028946

Gene Name

hes family bHLH transcription factor 3

Synonyms

bHLHb43

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL02426

Quality Score

Status

Chromosome

Chromosomal Location

152370429-152376119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152371397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 184 (N184S)

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: N159S

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

SMART Domains

Protein: ENSMUSP00000092006
Gene: ENSMUSG00000028946
AA Change: N159S

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: N184S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,157,675 (GRCm39)	T1294M	probably damaging	Het
Bad	A	G	19: 6,928,785 (GRCm39)	S128G	probably damaging	Het
Casp9	T	G	4: 141,539,515 (GRCm39)		probably null	Het
Ccdc39	T	C	3: 33,879,547 (GRCm39)	K507R	possibly damaging	Het
Cep76	A	G	18: 67,767,987 (GRCm39)	S182P	probably benign	Het
Cmklr2	T	C	1: 63,222,827 (GRCm39)	Y136C	probably damaging	Het
Cmtr2	A	G	8: 110,948,322 (GRCm39)	M211V	possibly damaging	Het
Cobl	T	A	11: 12,204,351 (GRCm39)	K777*	probably null	Het
Cul9	T	G	17: 46,834,184 (GRCm39)	T1253P	possibly damaging	Het
Dmd	T	A	X: 83,892,342 (GRCm39)	L3002H	probably damaging	Het
Dnah9	C	T	11: 66,015,979 (GRCm39)	V421I	probably benign	Het
Eif4a2	A	G	16: 22,929,399 (GRCm39)	I234V	probably benign	Het
Epha4	T	C	1: 77,421,514 (GRCm39)	M323V	probably benign	Het
Fam47c	A	G	X: 77,781,943 (GRCm39)	D175G	probably benign	Het
Gm14178	T	C	11: 99,638,341 (GRCm39)			Het
Kdm6a	A	G	X: 18,112,549 (GRCm39)	E45G	probably damaging	Het
Kdr	T	C	5: 76,135,126 (GRCm39)	K33E	probably benign	Het
Or2a52	A	C	6: 43,144,022 (GRCm39)	D10A	probably benign	Het
Or4k37	A	T	2: 111,158,920 (GRCm39)	D52V	probably damaging	Het
Or4k45	A	T	2: 111,394,883 (GRCm39)	I302K	probably benign	Het
Or52n4b	A	G	7: 108,144,187 (GRCm39)	T150A	probably benign	Het
Or8h7	A	G	2: 86,720,964 (GRCm39)	L185S	probably damaging	Het
Pi4ka	A	T	16: 17,196,296 (GRCm39)		probably benign	Het
Pigk	T	A	3: 152,448,120 (GRCm39)		probably null	Het
Pikfyve	A	G	1: 65,290,771 (GRCm39)	T1197A	possibly damaging	Het
Plppr4	T	C	3: 117,115,944 (GRCm39)	I638V	probably benign	Het
Pramel28	T	C	4: 143,693,229 (GRCm39)	D83G	possibly damaging	Het
Rtl9	T	C	X: 141,886,098 (GRCm39)	V1170A	probably damaging	Het
Ryr3	A	G	2: 112,731,250 (GRCm39)	S687P	possibly damaging	Het
Skint5	T	C	4: 113,797,981 (GRCm39)	T201A	probably benign	Het
Socs5	G	T	17: 87,442,320 (GRCm39)	R420L	probably damaging	Het
Sos1	C	T	17: 80,742,372 (GRCm39)	S385N	possibly damaging	Het
Tomm34	A	T	2: 163,906,875 (GRCm39)	V106D	probably damaging	Het
Tubal3	T	C	13: 3,982,750 (GRCm39)	S177P	probably damaging	Het
Wbp2nl	G	A	15: 82,190,374 (GRCm39)	A101T	probably damaging	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
R4498:Hes3	UTSW	4	152,371,542 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16