Mutagenetix > Incidental Mutation

Incidental Mutation 'R4658:Hoxb13'

352615

Institutional Source

Beutler Lab

Gene Symbol

Hoxb13

Ensembl Gene

ENSMUSG00000049604

Gene Name

homeobox B13

Synonyms

MMRRC Submission

041918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4658 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

96085142-96087436 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96085309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 14 (D14V)

Ref Sequence

ENSEMBL: ENSMUSP00000056315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062709]

AlphaFold

P70321

Predicted Effect

probably benign
Transcript: ENSMUST00000062709
AA Change: D14V

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056315
Gene: ENSMUSG00000049604
AA Change: D14V

Domain	Start	End	E-Value	Type
Pfam:HoxA13_N	12	124	9.2e-31	PFAM
HOX	218	280	5.62e-21	SMART

Meta Mutation Damage Score

0.1063

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (88/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for loss of function mutations show overgrowth in all major structures derived from the tail bud. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,625 (GRCm39)	R778S	probably damaging	Het
Adam17	A	G	12: 21,382,161 (GRCm39)	C567R	probably damaging	Het
Ankrd28	G	A	14: 31,432,825 (GRCm39)	A758V	probably damaging	Het
Atrn	T	C	2: 130,775,349 (GRCm39)	Y151H	probably damaging	Het
B3gat3	A	G	19: 8,902,996 (GRCm39)	T118A	possibly damaging	Het
Camta1	A	G	4: 151,228,367 (GRCm39)	C822R	probably damaging	Het
Capn15	G	T	17: 26,179,742 (GRCm39)	Q807K	probably benign	Het
Clec12a	T	C	6: 129,331,493 (GRCm39)	Y145H	probably damaging	Het
Clk1	T	C	1: 58,452,146 (GRCm39)	I393V	probably benign	Het
Cpm	A	G	10: 117,503,956 (GRCm39)	I121V	probably benign	Het
Cux1	A	G	5: 136,279,448 (GRCm39)	I405T	possibly damaging	Het
Dnah3	A	G	7: 119,549,874 (GRCm39)	S3471P	probably damaging	Het
Dok6	A	G	18: 89,491,971 (GRCm39)		probably benign	Het
Eif4g1	A	T	16: 20,504,684 (GRCm39)	D1124V	possibly damaging	Het
Eif4g3	A	G	4: 137,933,443 (GRCm39)	E1756G	probably damaging	Het
Exo5	A	G	4: 120,779,748 (GRCm39)	V39A	probably benign	Het
Fmnl1	A	T	11: 103,088,520 (GRCm39)	I90F	probably damaging	Het
Fryl	G	T	5: 73,238,396 (GRCm39)	T1450K	probably damaging	Het
Gde1	T	C	7: 118,293,751 (GRCm39)	M91V	probably benign	Het
Gimd1	T	C	3: 132,350,343 (GRCm39)	I84T	probably damaging	Het
Gm13889	C	T	2: 93,787,453 (GRCm39)		probably benign	Het
Gm6445	T	A	19: 9,585,561 (GRCm39)		noncoding transcript	Het
Gm8113	T	C	14: 44,169,867 (GRCm39)	S483P	probably damaging	Het
Grik2	T	C	10: 49,399,888 (GRCm39)	I281V	possibly damaging	Het
Grik5	T	C	7: 24,760,152 (GRCm39)		probably benign	Het
Herc1	A	T	9: 66,386,773 (GRCm39)	I3796F	possibly damaging	Het
Hspg2	A	G	4: 137,261,041 (GRCm39)	Y1645C	probably damaging	Het
Igkv8-16	G	T	6: 70,363,762 (GRCm39)	R87S	probably damaging	Het
Ints1	A	T	5: 139,760,054 (GRCm39)	V140E	possibly damaging	Het
Kbtbd11	C	A	8: 15,078,917 (GRCm39)	D505E	possibly damaging	Het
Kcnu1	G	A	8: 26,427,583 (GRCm39)	C300Y	probably damaging	Het
Kmt2d	G	C	15: 98,750,410 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,578,493 (GRCm39)	V539A	probably benign	Het
Lipo5	C	T	19: 33,441,922 (GRCm39)	G200D	unknown	Het
Lmo7	C	A	14: 102,124,393 (GRCm39)	A284D	probably damaging	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcpt8	T	C	14: 56,321,285 (GRCm39)	M60V	possibly damaging	Het
Mdn1	A	G	4: 32,730,749 (GRCm39)		probably null	Het
Mphosph10	A	G	7: 64,038,722 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,395,135 (GRCm39)	S47N	unknown	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Nr1d1	G	A	11: 98,662,738 (GRCm39)	S85L	possibly damaging	Het
Obscn	T	A	11: 58,945,114 (GRCm39)	R4635*	probably null	Het
Or10al5	G	T	17: 38,063,054 (GRCm39)	C103F	probably damaging	Het
Or13f5	T	C	4: 52,826,240 (GRCm39)	L281P	probably damaging	Het
Or9i16	T	C	19: 13,864,912 (GRCm39)	I221V	probably benign	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb17	G	A	18: 37,619,652 (GRCm39)	G481S	probably damaging	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Phf3	A	T	1: 30,902,169 (GRCm39)	M48K	probably damaging	Het
Pira2	A	T	7: 3,843,933 (GRCm39)	V613E	probably damaging	Het
Poc1a	T	C	9: 106,226,887 (GRCm39)	S327P	possibly damaging	Het
Ptpn9	A	G	9: 56,927,321 (GRCm39)	H66R	probably benign	Het
Rabgap1	C	T	2: 37,377,561 (GRCm39)	R353*	probably null	Het
Rcc1l	G	T	5: 134,200,729 (GRCm39)	N134K	probably damaging	Het
Rims1	G	A	1: 22,497,793 (GRCm39)	T787I	probably damaging	Het
Rreb1	T	G	13: 38,132,777 (GRCm39)	S1651A	probably damaging	Het
Rsl1d1	T	C	16: 11,019,238 (GRCm39)	D100G	probably damaging	Het
Samd4	C	T	14: 47,301,703 (GRCm39)	R147C	probably damaging	Het
Serpinb6e	T	C	13: 34,025,299 (GRCm39)		probably benign	Het
Ska1	T	C	18: 74,330,111 (GRCm39)	I210V	probably benign	Het
Slc17a1	A	G	13: 24,062,543 (GRCm39)	I237V	probably benign	Het
Slc22a4	A	T	11: 53,888,336 (GRCm39)	S231T	probably benign	Het
Slc7a4	T	A	16: 17,393,797 (GRCm39)	M66L	probably damaging	Het
Snapc1	A	G	12: 74,030,642 (GRCm39)	T381A	possibly damaging	Het
St6galnac2	C	T	11: 116,575,351 (GRCm39)		probably benign	Het
Taar2	C	T	10: 23,817,401 (GRCm39)	L314F	probably benign	Het
Tmem74b	A	G	2: 151,548,561 (GRCm39)	D96G	probably damaging	Het
Tnfrsf17	T	C	16: 11,131,833 (GRCm39)	F6S	probably benign	Het
Tpp2	G	T	1: 43,993,870 (GRCm39)	G252W	probably damaging	Het
Trf	A	G	9: 103,100,807 (GRCm39)	F209L	probably damaging	Het
Ttn	T	C	2: 76,728,935 (GRCm39)		probably benign	Het
Uhmk1	A	T	1: 170,034,774 (GRCm39)	H311Q	probably damaging	Het
Unc13c	G	T	9: 73,840,108 (GRCm39)	Q248K	probably damaging	Het
Uqcrc2	A	G	7: 120,250,144 (GRCm39)	Y253C	probably damaging	Het
Vmn2r117	A	G	17: 23,697,390 (GRCm39)	F101L	probably benign	Het
Vmn2r43	T	C	7: 8,258,070 (GRCm39)	N381S	probably benign	Het
Zfp879	T	A	11: 50,724,024 (GRCm39)	Y271F	probably damaging	Het

Other mutations in Hoxb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Hoxb13	APN	11	96,085,468 (GRCm39)	missense	possibly damaging	0.79
IGL02005:Hoxb13	APN	11	96,085,435 (GRCm39)	missense	probably damaging	1.00
IGL02973:Hoxb13	APN	11	96,085,669 (GRCm39)	missense	probably damaging	1.00
R0943:Hoxb13	UTSW	11	96,086,799 (GRCm39)	missense	probably benign
R4573:Hoxb13	UTSW	11	96,085,777 (GRCm39)	missense	probably damaging	1.00
R6976:Hoxb13	UTSW	11	96,087,044 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCGTCTCTTGCGTCAAGAC -3'
(R):5'- AGTACCCGCCTCCAAAGTAG -3'

Sequencing Primer
(F):5'- GTCAAGACGGCCCAGCC -3'
(R):5'- GCCTCCAAAGTAGCCATAAGG -3'

Posted On

2015-10-08