Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Hoxa5'

30799

Institutional Source

Beutler Lab

Gene Symbol

Hoxa5

Ensembl Gene

ENSMUSG00000038253

Gene Name

homeobox A5

Synonyms

Hox-1.3

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52178768-52181437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52179626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 250 (W250R)

Ref Sequence

ENSEMBL: ENSMUSP00000039012 (fasta)

Gene Model

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

AlphaFold

P09021

Predicted Effect

probably damaging
Transcript: ENSMUST00000048794
AA Change: W250R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039012
Gene: ENSMUSG00000038253
AA Change: W250R

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

Meta Mutation Damage Score

0.8979

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	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
R0543:Hoxa5	UTSW	6	52,181,320 (GRCm39)	missense	probably damaging	1.00
R1061:Hoxa5	UTSW	6	52,181,135 (GRCm39)	missense	probably benign
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'- GCAACGAGAACAGGGCTTCTTCAC -3'
(R):5'- GGTTGTTCCCAGAGTCCAAATCCG -3'

Sequencing Primer
(F):5'- GGGCTTCTTCACAGAAGGAAC -3'
(R):5'- TGTTACAGACAATATAGGTGGCCC -3'

Posted On

2013-04-24