Mutagenetix > Incidental Mutation

Incidental Mutation 'R7295:Hoxc12'

566697

Institutional Source

Beutler Lab

Gene Symbol

Hoxc12

Ensembl Gene

ENSMUSG00000050328

Gene Name

homeobox C12

Synonyms

Hox-3.8

MMRRC Submission

045363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102845261-102847044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102846810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 234 (N234S)

Ref Sequence

ENSEMBL: ENSMUSP00000051003 (fasta)

Gene Model

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

AlphaFold

Q8K5B8

Predicted Effect

probably damaging
Transcript: ENSMUST00000055562
AA Change: N234S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051003
Gene: ENSMUSG00000050328
AA Change: N234S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Acp7	A	T	7: 28,328,955 (GRCm39)	F75Y	possibly damaging	Het
Adamts19	T	A	18: 58,970,955 (GRCm39)	Y180N	probably damaging	Het
Adck1	G	T	12: 88,397,815 (GRCm39)	D150Y	probably damaging	Het
Alb	T	A	5: 90,610,693 (GRCm39)		probably null	Het
Baat	A	T	4: 49,490,275 (GRCm39)	Y270N	probably damaging	Het
Bmp7	A	T	2: 172,781,690 (GRCm39)	I58N	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
Cbfa2t3	T	G	8: 123,364,768 (GRCm39)	D338A	probably benign	Het
Ccnd2	A	T	6: 127,125,725 (GRCm39)	C104S	possibly damaging	Het
Clip1	G	T	5: 123,765,419 (GRCm39)	Q713K	probably benign	Het
Ddx28	G	A	8: 106,737,476 (GRCm39)	S194L	probably benign	Het
Dync1h1	T	C	12: 110,631,183 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,902 (GRCm39)	Y193*	probably null	Het
Eprs1	A	G	1: 185,150,407 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,967,589 (GRCm39)	I63R	probably damaging	Het
Fam171a2	T	C	11: 102,329,064 (GRCm39)	E565G	possibly damaging	Het
Fbn1	T	A	2: 125,177,407 (GRCm39)	D1810V	probably damaging	Het
Foxj2	T	C	6: 122,817,190 (GRCm39)	S506P	probably benign	Het
Frmpd1	A	G	4: 45,285,700 (GRCm39)	E1507G	probably damaging	Het
Gfm1	G	A	3: 67,347,514 (GRCm39)	V258I	probably benign	Het
Gphn	T	C	12: 78,538,876 (GRCm39)	V174A	probably benign	Het
Gtpbp3	C	A	8: 71,942,139 (GRCm39)	S123R	possibly damaging	Het
H2bc8	T	C	13: 23,755,943 (GRCm39)	S113P	probably benign	Het
Hbs1l	T	C	10: 21,186,051 (GRCm39)	V491A	probably benign	Het
Il22b	A	T	10: 118,130,848 (GRCm39)	L16*	probably null	Het
Kcnj5	T	C	9: 32,234,087 (GRCm39)	D76G	probably damaging	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Lonp1	G	T	17: 56,929,495 (GRCm39)	Q181K	possibly damaging	Het
Mgst1	A	T	6: 138,124,754 (GRCm39)	I23F	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Myocos	T	C	1: 162,484,687 (GRCm39)	R41G	unknown	Het
Myod1	A	G	7: 46,027,643 (GRCm39)	D261G	probably benign	Het
Nop14	C	T	5: 34,796,376 (GRCm39)	R781Q	probably damaging	Het
Nsmaf	A	G	4: 6,438,083 (GRCm39)	V63A	probably benign	Het
Ntsr1	A	T	2: 180,142,725 (GRCm39)	H172L	probably damaging	Het
Or4k6	T	C	14: 50,476,073 (GRCm39)	K90E	probably damaging	Het
Or8b1c	A	T	9: 38,384,739 (GRCm39)	E232V	probably benign	Het
Pcdha11	T	C	18: 37,139,979 (GRCm39)	V536A	probably damaging	Het
Pcdha6	T	A	18: 37,101,189 (GRCm39)	N127K	probably damaging	Het
Prps1l1	T	A	12: 35,035,679 (GRCm39)	C265S	probably benign	Het
Prune2	A	G	19: 17,097,261 (GRCm39)	S922G	probably benign	Het
Qpctl	A	T	7: 18,883,055 (GRCm39)	M19K	probably benign	Het
Rad51	C	T	2: 118,964,599 (GRCm39)	T230I	possibly damaging	Het
Rad9b	A	G	5: 122,472,341 (GRCm39)	F246L	possibly damaging	Het
Rarb	A	T	14: 16,508,932 (GRCm38)		probably null	Het
Sdcbp2	T	C	2: 151,429,321 (GRCm39)	S214P	possibly damaging	Het
Slc22a1	T	A	17: 12,875,892 (GRCm39)	M441L	probably benign	Het
Slc35f1	G	A	10: 52,938,637 (GRCm39)	V190I	probably benign	Het
Spon1	A	T	7: 113,629,475 (GRCm39)	Q373L	possibly damaging	Het
Ssbp2	T	A	13: 91,842,122 (GRCm39)		probably null	Het
Sult1e1	T	A	5: 87,726,512 (GRCm39)	R201*	probably null	Het
Traj32	T	A	14: 54,423,606 (GRCm39)	L16Q		Het
Ttc16	T	C	2: 32,664,437 (GRCm39)	I67V	probably null	Het
Ttn	T	A	2: 76,556,899 (GRCm39)	K30035N	probably damaging	Het
Ttn	T	A	2: 76,776,473 (GRCm39)	Y1607F	unknown	Het
Usp16	G	A	16: 87,268,977 (GRCm39)	R290H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Xpnpep3	A	G	15: 81,298,735 (GRCm39)	H56R	probably damaging	Het
Zfp592	G	T	7: 80,674,070 (GRCm39)	D345Y	probably damaging	Het
Zfp931	A	T	2: 177,709,824 (GRCm39)	Y187*	probably null	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
R0724:Hoxc12	UTSW	15	102,845,490 (GRCm39)	missense	probably damaging	0.99
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
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'- AACATTTTCAGGATGAGAAGCG -3'
(R):5'- CCAAGGCAAGCTTAGTCTGG -3'

Sequencing Primer
(F):5'- CATTTTCAGGATGAGAAGCGAAAGG -3'
(R):5'- AAGCTTAGTCTGGGGCTAGCAC -3'

Posted On

2019-06-26