Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01131:Rhox3c'

278194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhox3c

Ensembl Gene

ENSMUSG00000079636

Gene Name

reproductive homeobox 3C

Synonyms

EG665203

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.436) question?

Stock #

IGL01131

Quality Score

Status

Chromosome

Chromosomal Location

36651521-36655614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36651982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 71 (R71K)

Ref Sequence

ENSEMBL: ENSMUSP00000110843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115188] [ENSMUST00000115189] [ENSMUST00000123851] [ENSMUST00000151387]

AlphaFold

A2AWM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000115188
AA Change: R71K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110842
Gene: ENSMUSG00000079636
AA Change: R71K

Domain	Start	End	E-Value	Type
HOX	154	215	5.74e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115189
AA Change: R71K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110843
Gene: ENSMUSG00000079636
AA Change: R71K

Domain	Start	End	E-Value	Type
HOX	154	215	5.74e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123851
AA Change: R28K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121720
Gene: ENSMUSG00000079636
AA Change: R28K

Domain	Start	End	E-Value	Type
SCOP:d1ftt__	111	141	2e-3	SMART
Blast:HOX	111	146	9e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000151387
AA Change: R28K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173574

SMART Domains

Protein: ENSMUSP00000134224
Gene: ENSMUSG00000079637

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC
HOX	60	113	1.13e-1	SMART

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
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,733,400 (GRCm39)	D75Y	possibly damaging	Het
Cfap20	T	C	8: 96,151,287 (GRCm39)	D18G	probably damaging	Het
Cpne3	T	C	4: 19,543,318 (GRCm39)	D160G	probably damaging	Het
Ercc3	A	G	18: 32,402,942 (GRCm39)	*784W	probably null	Het
Fam53b	T	C	7: 132,317,511 (GRCm39)	E377G	probably damaging	Het
Far2	T	C	6: 148,052,096 (GRCm39)	V125A	possibly damaging	Het
Fasn	T	C	11: 120,705,445 (GRCm39)	E1192G	probably benign	Het
Irf5	A	G	6: 29,536,102 (GRCm39)	E372G	probably damaging	Het
Kif2c	C	T	4: 117,029,562 (GRCm39)	V140M	probably damaging	Het
Klre1	T	C	6: 129,561,133 (GRCm39)	F165L	possibly damaging	Het
Kmt2a	C	T	9: 44,732,467 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,329,583 (GRCm39)	C1728Y	probably damaging	Het
Muc4	C	A	16: 32,753,901 (GRCm38)	T1259N	possibly damaging	Het
Nlrp9b	A	G	7: 19,757,462 (GRCm39)	D233G	probably damaging	Het
Nuf2	T	C	1: 169,349,933 (GRCm39)		probably benign	Het
Nynrin	A	G	14: 56,110,142 (GRCm39)	K1750E	probably damaging	Het
Or5b109	A	G	19: 13,212,103 (GRCm39)	D163G	probably benign	Het
Parp4	C	A	14: 56,823,217 (GRCm39)		probably benign	Het
Rbms1	T	C	2: 60,589,180 (GRCm39)	M287V	probably benign	Het
Rufy1	A	G	11: 50,282,850 (GRCm39)	L638P	probably damaging	Het
Slc15a3	G	A	19: 10,834,986 (GRCm39)		probably benign	Het
Slc26a9	T	C	1: 131,683,280 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,298,600 (GRCm39)	Y150C	probably damaging	Het
Slitrk6	A	T	14: 110,989,008 (GRCm39)	L233Q	probably damaging	Het
Ugt3a1	T	A	15: 9,365,248 (GRCm39)	I287N	probably damaging	Het
Unc13c	T	C	9: 73,471,335 (GRCm39)	N1778S	probably benign	Het
Vmn1r212	T	C	13: 23,067,329 (GRCm39)	N335D	unknown	Het
Wdfy1	C	T	1: 79,691,589 (GRCm39)	V273I	probably benign	Het

Other mutations in Rhox3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4842:Rhox3c	UTSW	X	36,652,077 (GRCm39)	missense	probably damaging	0.99
R9043:Rhox3c	UTSW	X	36,651,303 (GRCm39)	utr 3 prime	probably benign
R9044:Rhox3c	UTSW	X	36,651,303 (GRCm39)	utr 3 prime	probably benign
R9045:Rhox3c	UTSW	X	36,651,303 (GRCm39)	utr 3 prime	probably benign

Posted On

2015-04-16