Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Hoxa5'

94465

Institutional Source

Beutler Lab

Gene Symbol

Hoxa5

Ensembl Gene

ENSMUSG00000038253

Gene Name

homeobox A5

Synonyms

Hox-1.3

MMRRC Submission

039147-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R1061 (G1)

Quality Score

129

Status

Not validated

Chromosome

Chromosomal Location

52178768-52181437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52181135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 66 (S66T)

Ref Sequence

ENSEMBL: ENSMUSP00000039012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048794] [ENSMUST00000062829] [ENSMUST00000114434] [ENSMUST00000128102]

AlphaFold

P09021

Predicted Effect

probably benign
Transcript: ENSMUST00000048794
AA Change: S66T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039012
Gene: ENSMUSG00000038253
AA Change: S66T

Domain	Start	End	E-Value	Type
low complexity region	65	86	N/A	INTRINSIC
low complexity region	117	134	N/A	INTRINSIC
low complexity region	146	175	N/A	INTRINSIC
HOX	195	257	1.63e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062829

SMART Domains

Protein: ENSMUSP00000058755
Gene: ENSMUSG00000043219

Domain	Start	End	E-Value	Type
HOX	154	216	2.43e-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

noncoding transcript
Transcript: ENSMUST00000136806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142764

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

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. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show skeletal defects, tracheal and lung dysmorphology, reduced surfactant production, emphysema, and partial neonatal lethality. Survivors show stunted growth, delayed ear elevation and eyelid opening, and altered thyroid development, digestive secretion, and ovarian biology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,108,153 (GRCm39)	A715T	probably benign	Het
Ampd2	A	G	3: 107,983,005 (GRCm39)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,531,248 (GRCm39)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,121,729 (GRCm39)	S381R	probably damaging	Het
Armc8	T	G	9: 99,419,784 (GRCm39)	N51H	probably damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,114,069 (GRCm39)	K471*	probably null	Het
Birc6	A	G	17: 74,996,307 (GRCm39)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,746,409 (GRCm39)	I139T	probably benign	Het
Ccdc60	C	A	5: 116,310,527 (GRCm39)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,286,128 (GRCm39)	A226V	probably benign	Het
Cibar2	C	A	8: 120,896,443 (GRCm39)		probably null	Het
Cog1	T	G	11: 113,542,863 (GRCm39)	S170A	probably benign	Het
Cwc15	T	C	9: 14,419,211 (GRCm39)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,923,643 (GRCm39)	D333E	probably benign	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Dlc1	T	A	8: 37,325,205 (GRCm39)	T367S	probably benign	Het
Dnah17	T	C	11: 117,943,514 (GRCm39)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,452,486 (GRCm39)	Y165*	probably null	Het
Eml6	T	C	11: 29,727,267 (GRCm39)	D1285G	probably damaging	Het
Fasn	T	C	11: 120,713,008 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,187,883 (GRCm39)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 190,740,370 (GRCm39)	V550E	probably benign	Het
Gcm2	A	G	13: 41,259,347 (GRCm39)	W41R	probably damaging	Het
Gli2	A	T	1: 118,782,247 (GRCm39)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,057,623 (GRCm39)	R346H	probably damaging	Het
Hsph1	A	T	5: 149,541,883 (GRCm39)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,929,915 (GRCm39)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,516,268 (GRCm39)	Y391*	probably null	Het
Mc2r	A	T	18: 68,540,880 (GRCm39)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,074,821 (GRCm39)	D106E	probably benign	Het
Nup43	G	T	10: 7,543,435 (GRCm39)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,237,663 (GRCm39)	E197D	probably damaging	Het
Odad1	T	C	7: 45,591,179 (GRCm39)	I218T	probably damaging	Het
Or10d1c	C	A	9: 38,893,779 (GRCm39)	C187F	probably damaging	Het
Or55b4	T	A	7: 102,133,321 (GRCm39)	*335C	probably null	Het
Or5p60	T	C	7: 107,723,663 (GRCm39)	Y269C	probably damaging	Het
Or8h8	A	T	2: 86,753,126 (GRCm39)	V250D	possibly damaging	Het
Pitrm1	A	G	13: 6,605,611 (GRCm39)	H186R	probably damaging	Het
Pklr	C	T	3: 89,052,188 (GRCm39)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,326,401 (GRCm39)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,558,682 (GRCm39)		probably null	Het
R3hcc1l	C	T	19: 42,571,865 (GRCm39)	R135*	probably null	Het
Ralyl	A	C	3: 14,180,761 (GRCm39)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
S100a1	T	C	3: 90,418,619 (GRCm39)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,624,729 (GRCm39)	M531K	probably damaging	Het
Slc5a5	T	A	8: 71,342,865 (GRCm39)	M232L	probably benign	Het
Tet3	A	T	6: 83,350,305 (GRCm39)	N1054K	probably damaging	Het
Tg	A	G	15: 66,570,408 (GRCm39)	N1427D	probably benign	Het
Tns1	A	C	1: 73,956,831 (GRCm39)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,153,156 (GRCm39)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,468,131 (GRCm39)	E40G	probably damaging	Het
Usp34	T	C	11: 23,334,420 (GRCm39)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,038,603 (GRCm39)	T726I	probably benign	Het
Vmn2r97	A	T	17: 19,148,440 (GRCm39)	R112*	probably null	Het
Vwa2	G	T	19: 56,897,426 (GRCm39)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,196,511 (GRCm39)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,958,725 (GRCm39)		probably null	Het
Wrap53	A	G	11: 69,453,226 (GRCm39)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,211,161 (GRCm39)	W216L	probably damaging	Het

Other mutations in Hoxa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Hoxa5	APN	6	52,181,311 (GRCm39)	missense	probably damaging	1.00
IGL01885:Hoxa5	APN	6	52,179,647 (GRCm39)	missense	probably damaging	1.00
IGL02021:Hoxa5	APN	6	52,179,637 (GRCm39)	missense	probably damaging	1.00
IGL02631:Hoxa5	APN	6	52,180,790 (GRCm39)	missense	probably damaging	1.00
IGL02885:Hoxa5	APN	6	52,179,688 (GRCm39)	missense	probably damaging	1.00
R0377:Hoxa5	UTSW	6	52,179,626 (GRCm39)	missense	probably damaging	1.00
R0543:Hoxa5	UTSW	6	52,181,320 (GRCm39)	missense	probably damaging	1.00
R1460:Hoxa5	UTSW	6	52,180,928 (GRCm39)	missense	probably benign	0.00
R1465:Hoxa5	UTSW	6	52,180,771 (GRCm39)	missense	probably benign	0.37
R1465:Hoxa5	UTSW	6	52,180,771 (GRCm39)	missense	probably benign	0.37
R1804:Hoxa5	UTSW	6	52,179,628 (GRCm39)	missense	probably damaging	1.00
R1822:Hoxa5	UTSW	6	52,179,712 (GRCm39)	missense	probably damaging	1.00
R2332:Hoxa5	UTSW	6	52,179,659 (GRCm39)	missense	probably damaging	1.00
R4303:Hoxa5	UTSW	6	52,181,240 (GRCm39)	missense	probably benign	0.01
R4796:Hoxa5	UTSW	6	52,180,943 (GRCm39)	missense	probably benign	0.01
R5642:Hoxa5	UTSW	6	52,181,197 (GRCm39)	missense	probably damaging	1.00
R6212:Hoxa5	UTSW	6	52,179,694 (GRCm39)	missense	probably damaging	1.00
R7134:Hoxa5	UTSW	6	52,181,023 (GRCm39)	missense	probably damaging	1.00
R7172:Hoxa5	UTSW	6	52,181,276 (GRCm39)	missense	probably damaging	1.00
R8037:Hoxa5	UTSW	6	52,181,309 (GRCm39)	missense	probably damaging	1.00
R8038:Hoxa5	UTSW	6	52,181,309 (GRCm39)	missense	probably damaging	1.00
R8199:Hoxa5	UTSW	6	52,181,240 (GRCm39)	missense	probably benign	0.01
R8947:Hoxa5	UTSW	6	52,179,776 (GRCm39)	missense	probably damaging	1.00
R9607:Hoxa5	UTSW	6	52,181,196 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCTTTACCGTGACTAATGTGCAG -3'
(R):5'- TATCCAAATGGCCCGGACTACCAG -3'

Sequencing Primer
(F):5'- AGATCTGGGGCTGAGCG -3'
(R):5'- AGTTCCGTGAGCGAACAA -3'

Posted On

2014-01-05