Mutagenetix > Incidental Mutation

Incidental Mutation 'R7458:Rhox8'

578281

Institutional Source

Beutler Lab

Gene Symbol

Rhox8

Ensembl Gene

ENSMUSG00000064137

Gene Name

reproductive homeobox 8

Synonyms

Tox

MMRRC Submission

045532-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7458 (G1)

Quality Score

191.526

Status

Not validated

Chromosome

Chromosomal Location

36963655-36967821 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT to GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT at 36966991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071885]

AlphaFold

Q6VSS7

Predicted Effect

probably benign
Transcript: ENSMUST00000071885

SMART Domains

Protein: ENSMUSP00000071782
Gene: ENSMUSG00000064137

Domain	Start	End	E-Value	Type
coiled coil region	108	145	N/A	INTRINSIC
coiled coil region	172	214	N/A	INTRINSIC
HOX	260	320	1.28e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,338,510 (GRCm39)	V501M	probably benign	Het
Abca13	T	C	11: 9,240,777 (GRCm39)	F880S	possibly damaging	Het
AI182371	T	A	2: 34,976,516 (GRCm39)	R206S	possibly damaging	Het
Akr1a1	A	T	4: 116,495,014 (GRCm39)	M286K	possibly damaging	Het
Aldh8a1	A	G	10: 21,271,492 (GRCm39)	E406G	possibly damaging	Het
Ambra1	T	A	2: 91,748,029 (GRCm39)	V1255D	probably benign	Het
Apol7e	C	T	15: 77,598,604 (GRCm39)	T23I	probably benign	Het
Armh4	T	C	14: 49,920,196 (GRCm39)	Y711C	probably damaging	Het
Boc	T	C	16: 44,307,119 (GRCm39)	E1034G		Het
Bricd5	T	C	17: 24,693,476 (GRCm39)	I39T	probably damaging	Het
Ccne1	T	C	7: 37,800,096 (GRCm39)	T163A	probably damaging	Het
Cct7	T	C	6: 85,436,978 (GRCm39)	V72A	probably benign	Het
Cdh3	A	G	8: 107,263,779 (GRCm39)	D199G	probably damaging	Het
Clip1	T	G	5: 123,778,609 (GRCm39)	E438A	probably damaging	Het
Col4a4	T	C	1: 82,476,669 (GRCm39)	I553M	unknown	Het
Csmd1	A	T	8: 16,003,738 (GRCm39)	N2605K	probably damaging	Het
Dnajc10	T	A	2: 80,155,094 (GRCm39)		probably null	Het
Fbn1	T	A	2: 125,161,036 (GRCm39)	D2168V	probably benign	Het
G2e3	T	A	12: 51,412,290 (GRCm39)	N443K	possibly damaging	Het
Gak	T	C	5: 108,730,940 (GRCm39)	D822G	probably benign	Het
Gm9493	A	G	19: 23,597,277 (GRCm39)	I58V	probably benign	Het
Gpr65	T	G	12: 98,242,324 (GRCm39)	S326A	probably damaging	Het
Irs2	T	C	8: 11,057,739 (GRCm39)	E231G	probably damaging	Het
Itga1	T	C	13: 115,122,802 (GRCm39)	D718G	probably benign	Het
Itih1	T	C	14: 30,665,223 (GRCm39)	M1V	probably null	Het
Lgr5	A	G	10: 115,293,660 (GRCm39)		probably null	Het
Lipn	A	G	19: 34,049,242 (GRCm39)	N136S	probably benign	Het
Lrrc37a	G	A	11: 103,388,258 (GRCm39)	T2389I	unknown	Het
Myo7b	G	A	18: 32,121,604 (GRCm39)	A767V	possibly damaging	Het
Necab1	A	T	4: 15,111,244 (GRCm39)	S61R	possibly damaging	Het
Or5m8	A	G	2: 85,822,994 (GRCm39)	T278A	probably damaging	Het
Phyhip	G	A	14: 70,699,260 (GRCm39)	R21H	probably damaging	Het
Pls1	G	A	9: 95,667,560 (GRCm39)	T116I	probably damaging	Het
Pnn	C	A	12: 59,119,200 (GRCm39)	S594R	unknown	Het
Psen1	T	A	12: 83,761,540 (GRCm39)	I114N	probably damaging	Het
Slc12a7	T	A	13: 73,933,188 (GRCm39)	V82E	probably damaging	Het
Slc25a44	A	G	3: 88,323,368 (GRCm39)	I246T	probably benign	Het
Slc2a13	T	A	15: 91,296,390 (GRCm39)	Y308F	probably benign	Het
Sntb2	C	A	8: 107,662,930 (GRCm39)	A166E	possibly damaging	Het
Tas2r135	T	A	6: 42,382,881 (GRCm39)	V140D	possibly damaging	Het
Tdrd6	T	C	17: 43,935,937 (GRCm39)	T1704A	probably benign	Het
Txndc12	A	G	4: 108,718,606 (GRCm39)	D159G	probably benign	Het
Ubash3a	T	C	17: 31,427,139 (GRCm39)	L16P	probably benign	Het
Usp4	T	C	9: 108,245,055 (GRCm39)	L331P	probably damaging	Het
Vmn2r108	T	C	17: 20,692,532 (GRCm39)	D108G	probably benign	Het
Vmn2r58	C	A	7: 41,487,123 (GRCm39)	A591S	probably benign	Het
Wdpcp	T	C	11: 21,698,919 (GRCm39)	I566T	probably damaging	Het
Zfp866	T	A	8: 70,218,202 (GRCm39)	K473*	probably null	Het

Other mutations in Rhox8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R9475:Rhox8	UTSW	X	36,966,991 (GRCm39)	small insertion	probably benign
R9628:Rhox8	UTSW	X	36,966,991 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCTGGCCTGATGGACTTG -3'
(R):5'- ACGCAGGTATACAGGACTGC -3'

Sequencing Primer
(F):5'- ATGGACTTGGGAGAGCCTC -3'
(R):5'- CAGGTATACAGGACTGCCCTTTG -3'

Posted On

2019-10-07