Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03330:Rhox4c'

416831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhox4c

Ensembl Gene

ENSMUSG00000079635

Gene Name

reproductive homeobox 4C

Synonyms

Rhox4.3

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03330

Quality Score

Status

Chromosome

Chromosomal Location

36661990-36666777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36662181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 15 (G15V)

Ref Sequence

ENSEMBL: ENSMUSP00000110837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115183]

AlphaFold

Q2MDG1

Predicted Effect

probably benign
Transcript: ENSMUST00000115183
AA Change: G15V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110837
Gene: ENSMUSG00000079635
AA Change: G15V

Domain	Start	End	E-Value	Type
low complexity region	90	101	N/A	INTRINSIC
HOX	128	190	4.8e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173214

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,050,254 (GRCm39)	I837V	probably damaging	Het
Actr2	A	G	11: 20,041,330 (GRCm39)	V138A	probably benign	Het
Adam30	G	A	3: 98,069,772 (GRCm39)	C535Y	probably damaging	Het
Bcor	G	A	X: 11,925,110 (GRCm39)	T162I	possibly damaging	Het
Catsperd	C	A	17: 56,939,316 (GRCm39)	N48K	possibly damaging	Het
Ccr2	T	C	9: 123,905,996 (GRCm39)	I92T	probably damaging	Het
Cp	A	G	3: 20,020,599 (GRCm39)	I197M	probably damaging	Het
Cpne3	T	A	4: 19,553,774 (GRCm39)	T86S	possibly damaging	Het
Dnm3	A	T	1: 162,148,560 (GRCm39)	D270E	probably benign	Het
Enpp1	C	T	10: 24,540,804 (GRCm39)		probably benign	Het
Ephx1	A	G	1: 180,827,371 (GRCm39)	V94A	possibly damaging	Het
Fbxw25	T	C	9: 109,474,307 (GRCm39)	M448V	probably benign	Het
Fhl2	A	G	1: 43,192,351 (GRCm39)	L14P	probably damaging	Het
Gabra4	T	C	5: 71,798,407 (GRCm39)	R191G	probably null	Het
Gtpbp6	T	C	5: 110,254,929 (GRCm39)	T151A	possibly damaging	Het
Lars1	T	A	18: 42,353,009 (GRCm39)	M803L	probably benign	Het
Myc	A	G	15: 61,859,998 (GRCm39)	T224A	probably benign	Het
Noxa1	T	A	2: 24,980,526 (GRCm39)	D161V	possibly damaging	Het
Or2w3b	A	C	11: 58,623,745 (GRCm39)	L82R	probably damaging	Het
Or4l1	C	T	14: 50,166,678 (GRCm39)	G108R	probably damaging	Het
Or8g52	C	T	9: 39,630,784 (GRCm39)	T87I	probably benign	Het
Peg3	G	T	7: 6,713,412 (GRCm39)	N603K	probably damaging	Het
Sgcb	T	A	5: 73,797,212 (GRCm39)	S183C	probably damaging	Het
Slc6a19	T	A	13: 73,837,679 (GRCm39)	I239F	possibly damaging	Het
Socs7	T	C	11: 97,269,378 (GRCm39)	Y399H	probably damaging	Het
Stc2	T	C	11: 31,319,804 (GRCm39)	D20G	probably benign	Het
Tmem184b	A	T	15: 79,254,179 (GRCm39)		probably null	Het
Tpo	A	G	12: 30,153,500 (GRCm39)	S285P	probably damaging	Het
Vmn2r27	G	T	6: 124,207,139 (GRCm39)	Y167*	probably null	Het

Other mutations in Rhox4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03176:Rhox4c	APN	X	36,662,181 (GRCm39)	missense	probably benign	0.05
X0018:Rhox4c	UTSW	X	36,666,607 (GRCm39)	missense	possibly damaging	0.68

Posted On

2016-08-02