Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Hoxa7'

447462

Institutional Source

Beutler Lab

Gene Symbol

Hoxa7

Ensembl Gene

ENSMUSG00000038236

Gene Name

homeobox A7

Synonyms

Hox-1.1

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52191471-52198757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52193004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 128 (D128G)

Ref Sequence

ENSEMBL: ENSMUSP00000048648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048715] [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134367] [ENSMUST00000140316] [ENSMUST00000150041] [ENSMUST00000153280]

AlphaFold

P02830

Predicted Effect

probably benign
Transcript: ENSMUST00000048715
AA Change: D128G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048648
Gene: ENSMUSG00000038236
AA Change: D128G

Domain	Start	End	E-Value	Type
HOX	129	191	1.72e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114434

SMART Domains

Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

Domain	Start	End	E-Value	Type
low complexity region	76	131	N/A	INTRINSIC
HOX	192	254	3.35e-28	SMART
low complexity region	287	302	N/A	INTRINSIC
low complexity region	304	326	N/A	INTRINSIC
Pfam:DUF4074	377	441	9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131502

Predicted Effect

unknown
Transcript: ENSMUST00000134367
AA Change: T131A

SMART Domains

Protein: ENSMUSP00000134610
Gene: ENSMUSG00000038236
AA Change: T131A

Domain	Start	End	E-Value	Type
HOX	8	70	1.72e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136806

Predicted Effect

probably benign
Transcript: ENSMUST00000140316

SMART Domains

Protein: ENSMUSP00000138790
Gene: ENSMUSG00000038236

Domain	Start	End	E-Value	Type
low complexity region	132	158	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000150041
AA Change: T73A

SMART Domains

Protein: ENSMUSP00000140519
Gene: ENSMUSG00000038236
AA Change: T73A

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
low complexity region	43	56	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142764

Predicted Effect

probably benign
Transcript: ENSMUST00000153280

SMART Domains

Protein: ENSMUSP00000134641
Gene: ENSMUSG00000038236

Domain	Start	End	E-Value	Type
HOX	8	70	1.72e-25	SMART

Meta Mutation Damage Score

0.1302

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no apparent skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Actr3	A	G	1: 125,344,116 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,564,280 (GRCm39)	E704G	probably benign	Het
Cyp4f14	T	A	17: 33,125,072 (GRCm39)	I450F	possibly damaging	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,465,422 (GRCm39)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Dyrk2	G	T	10: 118,696,245 (GRCm39)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,361,893 (GRCm39)	N45I	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,376,921 (GRCm39)	S243*	probably null	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	probably damaging	Het

Other mutations in Hoxa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Hoxa7	APN	6	52,194,286 (GRCm39)	missense	possibly damaging	0.95
IGL02179:Hoxa7	APN	6	52,192,854 (GRCm39)	missense	probably damaging	1.00
R0022:Hoxa7	UTSW	6	52,194,363 (GRCm39)	missense	probably damaging	0.98
R0022:Hoxa7	UTSW	6	52,194,363 (GRCm39)	missense	probably damaging	0.98
R1830:Hoxa7	UTSW	6	52,194,307 (GRCm39)	missense	possibly damaging	0.94
R3944:Hoxa7	UTSW	6	52,193,606 (GRCm39)	intron	probably benign
R4211:Hoxa7	UTSW	6	52,193,605 (GRCm39)	nonsense	probably null
R4880:Hoxa7	UTSW	6	52,194,014 (GRCm39)	utr 3 prime	probably benign
R6009:Hoxa7	UTSW	6	52,194,367 (GRCm39)	missense	probably damaging	1.00
R6481:Hoxa7	UTSW	6	52,193,594 (GRCm39)	intron	probably benign
R6532:Hoxa7	UTSW	6	52,194,295 (GRCm39)	missense	probably benign	0.05
R6724:Hoxa7	UTSW	6	52,192,719 (GRCm39)	missense	probably benign
R7133:Hoxa7	UTSW	6	52,192,720 (GRCm39)	missense	probably benign	0.01
R7400:Hoxa7	UTSW	6	52,194,033 (GRCm39)	missense	possibly damaging	0.54
R7646:Hoxa7	UTSW	6	52,192,699 (GRCm39)	makesense	probably null
R7797:Hoxa7	UTSW	6	52,192,870 (GRCm39)	missense	probably damaging	1.00
R8428:Hoxa7	UTSW	6	52,194,993 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTTCATGCGCCGATTCTGG -3'
(R):5'- AGTTGGAATTCTGCCCTAAGG -3'

Sequencing Primer
(F):5'- TCTGGAACCAGATCTTGATCTG -3'
(R):5'- AAGGCTTCTCACAGATGTTCTTG -3'

Posted On

2016-12-15