Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Hoxa4'

632161

Institutional Source

Beutler Lab

Gene Symbol

Hoxa4

Ensembl Gene

ENSMUSG00000000942

Gene Name

homeobox A4

Synonyms

Hox-1.4

MMRRC Submission

067562-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52166662-52168683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52167537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 215 (H215N)

Ref Sequence

ENSEMBL: ENSMUSP00000098943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101395] [ENSMUST00000114434] [ENSMUST00000128102]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101395
AA Change: H215N

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098943
Gene: ENSMUSG00000000942
AA Change: H215N

Domain	Start	End	E-Value	Type
low complexity region	14	23	N/A	INTRINSIC
low complexity region	25	45	N/A	INTRINSIC
low complexity region	48	95	N/A	INTRINSIC
low complexity region	101	126	N/A	INTRINSIC
HOX	180	242	1.52e-26	SMART
low complexity region	265	275	N/A	INTRINSIC

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to homeotic transformation of cervical vertebrae. Mice homozygous for a knock-out allele also exhibit a hunched appearance of the pectoral girdle. Mice homozygous for a different knock-out allele show additionalsternal 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
Abce1	G	A	8: 80,425,982 (GRCm39)	P265L	probably benign	Het
Adam20	A	G	8: 41,249,101 (GRCm39)	T404A	probably benign	Het
Anp32a	G	T	9: 62,284,863 (GRCm39)	R237L	unknown	Het
Ascc3	A	G	10: 50,643,554 (GRCm39)	D1835G	probably benign	Het
Atg9b	A	G	5: 24,590,220 (GRCm39)		probably null	Het
Bard1	A	T	1: 71,106,297 (GRCm39)	N443K	probably damaging	Het
Btnl1	A	G	17: 34,604,647 (GRCm39)	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,067,711 (GRCm39)	I487F		Het
Cadm4	A	G	7: 24,203,030 (GRCm39)	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,648,075 (GRCm39)	K128E	probably benign	Het
Casz1	C	T	4: 149,027,492 (GRCm39)	P1005S	probably damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Cfap54	A	T	10: 92,714,378 (GRCm39)	V2667D	unknown	Het
Col11a1	A	G	3: 114,012,435 (GRCm39)	K1792E	unknown	Het
Cpne9	A	T	6: 113,272,003 (GRCm39)	D377V	probably benign	Het
Csmd1	A	T	8: 15,982,550 (GRCm39)	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,651,391 (GRCm39)	V222A	probably benign	Het
Frmpd2	T	C	14: 33,227,452 (GRCm39)	S277P	probably benign	Het
Herc2	C	T	7: 55,734,884 (GRCm39)	T158I	probably benign	Het
Hpd	G	T	5: 123,312,443 (GRCm39)	Q309K	probably benign	Het
Il20ra	A	G	10: 19,626,452 (GRCm39)	T159A	probably damaging	Het
Ints10	T	A	8: 69,255,638 (GRCm39)	Y209*	probably null	Het
Ints2	A	G	11: 86,103,486 (GRCm39)	I1190T	probably damaging	Het
Jhy	A	G	9: 40,872,188 (GRCm39)	V107A	probably null	Het
Kdm4d	C	T	9: 14,374,532 (GRCm39)	R442H	probably damaging	Het
Kifbp	T	C	10: 62,413,756 (GRCm39)	Y134C	probably benign	Het
Klb	A	T	5: 65,540,958 (GRCm39)	H1017L	probably benign	Het
Kndc1	T	A	7: 139,481,285 (GRCm39)		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,518,660 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,503,047 (GRCm39)	I423M	probably damaging	Het
Magi2	T	G	5: 20,596,365 (GRCm39)	F274L	probably damaging	Het
Magi2	T	A	5: 20,596,392 (GRCm39)	D283E	probably benign	Het
Map3k19	A	C	1: 127,751,492 (GRCm39)	S620A	probably damaging	Het
Meis2	C	T	2: 115,697,369 (GRCm39)	M388I	probably benign	Het
Ms4a3	G	C	19: 11,615,613 (GRCm39)	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,710,585 (GRCm39)	M548K	possibly damaging	Het
Ninl	C	T	2: 150,792,234 (GRCm39)	C763Y	probably benign	Het
Numa1	T	C	7: 101,650,834 (GRCm39)	F1522L	probably benign	Het
Or13a25	T	A	7: 140,247,680 (GRCm39)	I153N	possibly damaging	Het
Or2bd2	T	C	7: 6,441,922 (GRCm39)		probably benign	Het
Pcdhgc3	G	A	18: 37,939,916 (GRCm39)	V106I	probably benign	Het
Phf3	A	G	1: 30,863,552 (GRCm39)	V152A	unknown	Het
Pira1	A	G	7: 3,738,838 (GRCm39)	S590P	probably damaging	Het
Plcg2	A	T	8: 118,284,057 (GRCm39)	D118V	probably damaging	Het
Pnpla1	A	G	17: 29,097,443 (GRCm39)	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,672,888 (GRCm39)	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rrs1	C	T	1: 9,615,645 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,592 (GRCm39)	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157 (GRCm39)		probably null	Het
Sun3	G	T	11: 8,979,346 (GRCm39)	D118E	probably benign	Het
Svop	C	T	5: 114,180,992 (GRCm39)	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,937,064 (GRCm39)	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,198,381 (GRCm39)	D116E	probably benign	Het
Ube2z	A	G	11: 95,949,200 (GRCm39)	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,462,797 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,631,718 (GRCm39)	I2639T	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,003,166 (GRCm39)	V92E	probably benign	Het

Other mutations in Hoxa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Hoxa4	APN	6	52,167,393 (GRCm39)	missense	probably damaging	0.98
BB009:Hoxa4	UTSW	6	52,167,397 (GRCm39)	missense	probably damaging	1.00
BB019:Hoxa4	UTSW	6	52,167,397 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Hoxa4	UTSW	6	52,168,199 (GRCm39)	missense	possibly damaging	0.47
R3983:Hoxa4	UTSW	6	52,167,657 (GRCm39)	missense	probably benign	0.19
R7087:Hoxa4	UTSW	6	52,168,271 (GRCm39)	missense	probably damaging	0.99
R7592:Hoxa4	UTSW	6	52,168,520 (GRCm39)	missense	unknown
R7932:Hoxa4	UTSW	6	52,167,397 (GRCm39)	missense	probably damaging	1.00
R7971:Hoxa4	UTSW	6	52,168,711 (GRCm39)	intron	probably benign
Z1177:Hoxa4	UTSW	6	52,168,616 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGAGAAACTGATCCAGGTCTC -3'
(R):5'- TCCCGTTGTCAATAGCCTGTG -3'

Sequencing Primer
(F):5'- CCAGGTCTCTAGATTATATGGAGGAG -3'
(R):5'- AATGATGATGTCCGATTGCTCTTC -3'

Posted On

2020-06-30