Mutagenetix > Incidental Mutation

Incidental Mutation 'R7756:Hoxa9'

597549

Institutional Source

Beutler Lab

Gene Symbol

Hoxa9

Ensembl Gene

ENSMUSG00000038227

Gene Name

homeobox A9

Synonyms

D6a9, Hox-1.7

MMRRC Submission

045812-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R7756 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52200077-52203169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52202542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 181 (N181K)

Ref Sequence

ENSEMBL: ENSMUSP00000046939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048680] [ENSMUST00000114425] [ENSMUST00000150041]

AlphaFold

P09631

PDB Structure

Crystal Structure of HoxA9 and Pbx1 homeodomains bound to DNA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000048680
AA Change: N181K

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046939
Gene: ENSMUSG00000038227
AA Change: N181K

Domain	Start	End	E-Value	Type
Pfam:Hox9_act	1	192	3.8e-71	PFAM
HOX	205	267	3.3e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114425

SMART Domains

Protein: ENSMUSP00000110068
Gene: ENSMUSG00000038227

Domain	Start	End	E-Value	Type
Pfam:Hox9_act	1	105	5.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150041

SMART Domains

Protein: ENSMUSP00000140519
Gene: ENSMUSG00000038236

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of similar genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is important for hematopoeisis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit homeotic transformations affecting lumbar vertebrae, reduced spleen and thymus weights, and defects in myeloid, erythroid, and lymphoid hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bpnt2	A	T	4: 4,769,385 (GRCm39)	H243Q	probably damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Btbd2	T	C	10: 80,484,440 (GRCm39)	I159V	probably benign	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Cfap99	G	T	5: 34,459,952 (GRCm39)	C105F	probably damaging	Het
Clcn6	T	C	4: 148,113,896 (GRCm39)	D54G	probably damaging	Het
Dennd5a	T	C	7: 109,520,714 (GRCm39)	N381S	possibly damaging	Het
Disp1	A	C	1: 182,871,298 (GRCm39)	V374G	probably damaging	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fcer1a	A	G	1: 173,049,142 (GRCm39)	L223P	probably damaging	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
Gys1	T	C	7: 45,097,726 (GRCm39)	V491A	probably benign	Het
Ift81	A	T	5: 122,689,088 (GRCm39)	L676H	probably damaging	Het
Inava	A	G	1: 136,144,171 (GRCm39)	S422P	probably benign	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Nr1h5	T	C	3: 102,856,925 (GRCm39)	I196V	probably benign	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or2a20	T	A	6: 43,193,950 (GRCm39)	Y34*	probably null	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Shcbp1	T	C	8: 4,794,545 (GRCm39)	K416R	probably damaging	Het
Slc20a2	T	G	8: 23,025,508 (GRCm39)	I70S	probably damaging	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Snrpa	A	G	7: 26,892,371 (GRCm39)	V63A	possibly damaging	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Tnrc18	A	G	5: 142,772,907 (GRCm39)	S641P		Het
Tspan32	A	G	7: 142,570,959 (GRCm39)	N189D	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Usp40	G	T	1: 87,894,922 (GRCm39)	T866K	probably damaging	Het
Vmn1r220	G	A	13: 23,367,877 (GRCm39)	T273I	probably benign	Het
Yes1	C	T	5: 32,842,024 (GRCm39)	T516I	probably damaging	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	possibly damaging	Het

Other mutations in Hoxa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0370:Hoxa9	UTSW	6	52,202,684 (GRCm39)	missense	possibly damaging	0.48
R0727:Hoxa9	UTSW	6	52,201,294 (GRCm39)	missense	probably damaging	0.99
R1173:Hoxa9	UTSW	6	52,202,693 (GRCm39)	missense	probably damaging	0.99
R1174:Hoxa9	UTSW	6	52,202,693 (GRCm39)	missense	probably damaging	0.99
R1175:Hoxa9	UTSW	6	52,202,693 (GRCm39)	missense	probably damaging	0.99
R4611:Hoxa9	UTSW	6	52,202,690 (GRCm39)	missense	probably damaging	1.00
R5857:Hoxa9	UTSW	6	52,201,277 (GRCm39)	missense	probably damaging	1.00
R7679:Hoxa9	UTSW	6	52,201,288 (GRCm39)	missense	probably damaging	0.99
R7758:Hoxa9	UTSW	6	52,202,542 (GRCm39)	missense	probably benign	0.17
R7922:Hoxa9	UTSW	6	52,201,289 (GRCm39)	missense	possibly damaging	0.92
R8398:Hoxa9	UTSW	6	52,201,403 (GRCm39)	missense	probably damaging	0.99
R8474:Hoxa9	UTSW	6	52,202,506 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTCTGGTTCTCGGACCCTAG -3'
(R):5'- TGCAGTGTATCATCACCACC -3'

Sequencing Primer
(F):5'- TTCTCGGACCCTAGATCCAGAG -3'
(R):5'- TATATGCGCTCCTGGCTGGAAC -3'

Posted On

2019-11-26