Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Hoxc12'

63832

Institutional Source

Beutler Lab

Gene Symbol

Hoxc12

Ensembl Gene

ENSMUSG00000050328

Gene Name

homeobox C12

Synonyms

Hox-3.8

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0724 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

102845261-102847044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102845490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 68 (Y68C)

Ref Sequence

ENSEMBL: ENSMUSP00000051003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055562]

AlphaFold

Q8K5B8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055562
AA Change: Y68C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051003
Gene: ENSMUSG00000050328
AA Change: Y68C

Domain	Start	End	E-Value	Type
low complexity region	101	129	N/A	INTRINSIC
low complexity region	144	173	N/A	INTRINSIC
HOX	212	274	1.05e-20	SMART

Meta Mutation Damage Score

0.2891

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,573 (GRCm39)	E136G	probably benign	Het
Adgre4	T	A	17: 56,159,281 (GRCm39)	S655R	probably benign	Het
Ak7	T	A	12: 105,676,513 (GRCm39)	V71E	probably benign	Het
Ank2	C	T	3: 126,755,986 (GRCm39)	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,976,607 (GRCm39)	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,499,755 (GRCm39)	I109N	possibly damaging	Het
Camta1	A	G	4: 151,162,349 (GRCm39)	I119T	probably damaging	Het
Carm1	A	G	9: 21,498,670 (GRCm39)	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077 (GRCm39)	P177L	probably benign	Het
Ccdc122	C	A	14: 77,329,517 (GRCm39)		probably benign	Het
Ces1a	A	G	8: 93,766,141 (GRCm39)	S158P	probably damaging	Het
Ces3a	T	A	8: 105,776,827 (GRCm39)	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,728,081 (GRCm39)	D583A	possibly damaging	Het
Corin	A	G	5: 72,490,138 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,610,283 (GRCm39)	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377 (GRCm39)		probably null	Het
Dis3l	T	C	9: 64,214,408 (GRCm39)	T1027A	possibly damaging	Het
Dop1b	A	G	16: 93,559,213 (GRCm39)	E653G	probably benign	Het
Dst	A	G	1: 34,227,758 (GRCm39)	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,057,877 (GRCm39)	T64A	probably benign	Het
Emp2	C	T	16: 10,102,479 (GRCm39)	C111Y	probably benign	Het
Enam	A	G	5: 88,649,853 (GRCm39)	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,193,984 (GRCm39)	C1328S	probably benign	Het
Gata3	T	C	2: 9,879,386 (GRCm39)	T197A	probably benign	Het
Gm1043	A	G	5: 37,344,573 (GRCm39)	T212A	probably damaging	Het
H2-Eb1	T	C	17: 34,534,006 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,506 (GRCm39)	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,204,317 (GRCm39)	Y239*	probably null	Het
Inpp5a	A	G	7: 139,096,579 (GRCm39)	I143V	probably benign	Het
Klhdc2	C	A	12: 69,343,822 (GRCm39)	F18L	probably benign	Het
Kpnb1	T	C	11: 97,069,130 (GRCm39)	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,635,570 (GRCm39)	N315I	probably damaging	Het
Map3k10	A	C	7: 27,367,780 (GRCm39)	V286G	probably damaging	Het
Myo7b	G	A	18: 32,138,602 (GRCm39)		probably benign	Het
Nlrp2	G	T	7: 5,322,221 (GRCm39)	L809I	probably damaging	Het
Oacyl	T	C	18: 65,870,896 (GRCm39)		probably benign	Het
Or4q3	A	G	14: 50,583,374 (GRCm39)	V175A	possibly damaging	Het
Paxbp1	T	A	16: 90,833,424 (GRCm39)	D270V	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pira13	T	C	7: 3,819,871 (GRCm39)	N564S	possibly damaging	Het
Plcb3	G	A	19: 6,940,760 (GRCm39)	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,546,350 (GRCm39)	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,583,144 (GRCm39)	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,159,752 (GRCm39)	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,972,643 (GRCm39)		probably benign	Het
Smim14	A	G	5: 65,610,682 (GRCm39)		probably benign	Het
Sost	C	T	11: 101,857,744 (GRCm39)	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,652,301 (GRCm39)	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829 (GRCm39)	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,860,485 (GRCm39)	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tshr	T	C	12: 91,505,060 (GRCm39)	F666S	probably damaging	Het
Wdr1	A	G	5: 38,698,205 (GRCm39)	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,335,482 (GRCm39)	W416R	probably damaging	Het

Other mutations in Hoxc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Hoxc12	APN	15	102,845,755 (GRCm39)	missense	probably benign
IGL01978:Hoxc12	APN	15	102,845,299 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Hoxc12	UTSW	15	102,846,855 (GRCm39)	missense	probably damaging	1.00
R3748:Hoxc12	UTSW	15	102,846,813 (GRCm39)	missense	probably damaging	1.00
R4448:Hoxc12	UTSW	15	102,846,911 (GRCm39)	missense	probably damaging	1.00
R5151:Hoxc12	UTSW	15	102,846,881 (GRCm39)	missense	probably damaging	1.00
R6376:Hoxc12	UTSW	15	102,845,524 (GRCm39)	missense	possibly damaging	0.77
R7034:Hoxc12	UTSW	15	102,846,795 (GRCm39)	missense	probably damaging	0.99
R7036:Hoxc12	UTSW	15	102,846,795 (GRCm39)	missense	probably damaging	0.99
R7096:Hoxc12	UTSW	15	102,845,473 (GRCm39)	missense	possibly damaging	0.79
R7295:Hoxc12	UTSW	15	102,846,810 (GRCm39)	missense	probably damaging	0.97
R8789:Hoxc12	UTSW	15	102,846,732 (GRCm39)	missense	probably benign	0.00
X0028:Hoxc12	UTSW	15	102,845,893 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCGAGCATAATCTCCTGAATCCTG -3'
(R):5'- GTGTAGTCGTACTTGAAGCCGAGC -3'

Sequencing Primer
(F):5'- ATAATCTCCTGAATCCTGGGTTTGTG -3'
(R):5'- TTGAAGCCGAGCGCAGG -3'

Posted On

2013-07-30