Mutagenetix > Incidental Mutation

Incidental Mutation 'R9160:Hoxd9'

695625

Institutional Source

Beutler Lab

Gene Symbol

Hoxd9

Ensembl Gene

ENSMUSG00000043342

Gene Name

homeobox D9

Synonyms

Hox-5.2, Hox-4.4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74528107-74530552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74529761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 339 (D339G)

Ref Sequence

ENSEMBL: ENSMUSP00000058490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059272] [ENSMUST00000061745]

AlphaFold

P28357

Predicted Effect

unknown
Transcript: ENSMUST00000059272
AA Change: D339G

SMART Domains

Protein: ENSMUSP00000058490
Gene: ENSMUSG00000043342
AA Change: D339G

Domain	Start	End	E-Value	Type
Pfam:Hox9_act	1	126	2e-47	PFAM
low complexity region	155	176	N/A	INTRINSIC
low complexity region	208	225	N/A	INTRINSIC
low complexity region	248	256	N/A	INTRINSIC
HOX	272	334	6.25e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061745

SMART Domains

Protein: ENSMUSP00000062412
Gene: ENSMUSG00000050368

Domain	Start	End	E-Value	Type
low complexity region	24	43	N/A	INTRINSIC
HOX	266	328	3.3e-27	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit anterior transformation of lumbar, sacral, and caudal vertebrae with abnormal humerus morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	A	16: 20,379,246 (GRCm39)	R704H	possibly damaging	Het
Akap13	T	C	7: 75,385,526 (GRCm39)	F533L	possibly damaging	Het
Ank3	G	A	10: 69,838,304 (GRCm39)	V1771I	unknown	Het
Aspm	T	C	1: 139,417,862 (GRCm39)	L2911S	probably damaging	Het
Atp2b4	T	C	1: 133,660,143 (GRCm39)	I380V	probably benign	Het
C2cd3	T	A	7: 100,075,236 (GRCm39)	L739I		Het
Cacng6	T	C	7: 3,483,406 (GRCm39)	S245P	probably benign	Het
Chd5	A	G	4: 152,469,916 (GRCm39)	S1830G	probably damaging	Het
Col20a1	T	C	2: 180,641,538 (GRCm39)	M660T	probably benign	Het
Dnajc6	G	A	4: 101,470,258 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,857,962 (GRCm39)	S1451P	unknown	Het
Ehd4	A	G	2: 119,967,440 (GRCm39)	V118A	probably damaging	Het
Espl1	A	G	15: 102,206,953 (GRCm39)	D139G	probably damaging	Het
Fer1l6	G	A	15: 58,515,715 (GRCm39)	E1601K	possibly damaging	Het
Fermt3	A	T	19: 6,991,785 (GRCm39)	L142Q	probably damaging	Het
Gfral	A	T	9: 76,104,372 (GRCm39)	N213K	possibly damaging	Het
Gria4	A	G	9: 4,424,412 (GRCm39)	F818L	probably damaging	Het
H2-Eb1	A	T	17: 34,528,831 (GRCm39)	R121*	probably null	Het
Hpn	G	T	7: 30,808,402 (GRCm39)	P78T	probably benign	Het
Inpp4b	T	A	8: 82,610,782 (GRCm39)	V175E	possibly damaging	Het
Itpr2	A	G	6: 146,276,099 (GRCm39)	L736P	probably damaging	Het
Klhl6	G	T	16: 19,775,772 (GRCm39)	P262Q	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mc5r	A	T	18: 68,472,205 (GRCm39)	Y188F	probably damaging	Het
Mob1b	T	C	5: 88,904,017 (GRCm39)	S218P	probably benign	Het
Mrgprb2	T	C	7: 48,201,982 (GRCm39)	I248V	possibly damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Or1e29	A	T	11: 73,667,881 (GRCm39)	S91T	probably benign	Het
Or2ah1	T	A	2: 85,653,318 (GRCm39)	M1K	probably null	Het
Or2o1	G	T	11: 49,051,261 (GRCm39)	W140L	probably damaging	Het
Or5j3	A	T	2: 86,128,330 (GRCm39)	T57S	probably benign	Het
Pcdhga8	T	A	18: 37,860,465 (GRCm39)	I507N	probably damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Psg28	A	G	7: 18,164,640 (GRCm39)	L24P	probably damaging	Het
Ptk2	A	T	15: 73,087,933 (GRCm39)	D868E	probably benign	Het
Ptpn6	G	C	6: 124,705,135 (GRCm39)	R264G	possibly damaging	Het
Rnf10	T	A	5: 115,398,249 (GRCm39)	M95L	probably benign	Het
Rnf40	C	T	7: 127,190,993 (GRCm39)	T326I	probably damaging	Het
Rp1	G	T	1: 4,416,720 (GRCm39)	T1464K	probably benign	Het
Satb1	T	C	17: 52,047,053 (GRCm39)	E723G	probably benign	Het
Scgb3a2	T	A	18: 43,900,445 (GRCm39)		probably benign	Het
Sidt2	A	G	9: 45,858,280 (GRCm39)		probably null	Het
Sorcs1	A	T	19: 50,213,658 (GRCm39)	C690S	probably damaging	Het
Spag16	T	A	1: 69,962,873 (GRCm39)	M340K	probably benign	Het
Stk3	A	G	15: 35,099,611 (GRCm39)	V107A	probably damaging	Het
Tlr1	T	A	5: 65,083,653 (GRCm39)	H308L	probably benign	Het
Tmx2	A	G	2: 84,503,907 (GRCm39)	F162S	probably damaging	Het
Vmn2r57	C	T	7: 41,076,159 (GRCm39)	S451N	possibly damaging	Het
Zbtb49	T	A	5: 38,363,246 (GRCm39)	I446F	probably damaging	Het
Zdhhc17	A	T	10: 110,783,189 (GRCm39)	I493N	probably damaging	Het

Other mutations in Hoxd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0723:Hoxd9	UTSW	2	74,529,172 (GRCm39)	missense	probably damaging	1.00
R3743:Hoxd9	UTSW	2	74,528,710 (GRCm39)	missense	probably damaging	0.99
R4155:Hoxd9	UTSW	2	74,529,667 (GRCm39)	missense	probably benign	0.15
R4261:Hoxd9	UTSW	2	74,526,031 (GRCm39)	unclassified	probably benign
R5794:Hoxd9	UTSW	2	74,529,617 (GRCm39)	missense	probably damaging	1.00
R6114:Hoxd9	UTSW	2	74,529,709 (GRCm39)	missense	probably damaging	1.00
R6197:Hoxd9	UTSW	2	74,529,166 (GRCm39)	missense	probably damaging	0.99
R6248:Hoxd9	UTSW	2	74,528,980 (GRCm39)	missense	probably benign	0.09
R6268:Hoxd9	UTSW	2	74,528,433 (GRCm39)	missense	probably damaging	1.00
R6717:Hoxd9	UTSW	2	74,528,733 (GRCm39)	missense	probably benign	0.01
R6809:Hoxd9	UTSW	2	74,529,590 (GRCm39)	missense	probably damaging	1.00
R7183:Hoxd9	UTSW	2	74,528,709 (GRCm39)	missense	possibly damaging	0.59
R7254:Hoxd9	UTSW	2	74,528,718 (GRCm39)	missense	probably damaging	1.00
R9277:Hoxd9	UTSW	2	74,529,539 (GRCm39)	missense	possibly damaging	0.76
R9445:Hoxd9	UTSW	2	74,528,415 (GRCm39)	missense	probably damaging	0.99
Z1176:Hoxd9	UTSW	2	74,528,472 (GRCm39)	missense	probably damaging	0.99
Z1177:Hoxd9	UTSW	2	74,528,869 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ATACCAGACGCTAGAGCTGG -3'
(R):5'- CCAAAGCCACTTGGTTTCTC -3'

Sequencing Primer
(F):5'- GCTAGAGCTGGAGAAGGAATTCCTC -3'
(R):5'- GGTTTCTCCAATACATATGCGAGC -3'

Posted On

2022-01-20