Mutagenetix > Incidental Mutation

Incidental Mutation 'R3121:Homez'

263248

Institutional Source

Beutler Lab

Gene Symbol

Homez

Ensembl Gene

ENSMUSG00000057156

Gene Name

homeodomain leucine zipper-encoding gene

Synonyms

MMRRC Submission

040594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55090193-55108418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55094778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 310 (E310G)

Ref Sequence

ENSEMBL: ENSMUSP00000117828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081162] [ENSMUST00000142283] [ENSMUST00000146642] [ENSMUST00000176259] [ENSMUST00000218311] [ENSMUST00000219350] [ENSMUST00000220403] [ENSMUST00000220122] [ENSMUST00000219519] [ENSMUST00000220208]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081162
AA Change: E310G

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

SMART Domains

Protein: ENSMUSP00000079929
Gene: ENSMUSG00000057156
AA Change: E310G

Domain	Start	End	E-Value	Type
HOX	37	93	1.7e-1	SMART
low complexity region	244	261	N/A	INTRINSIC
HOX	327	388	2.24e-6	SMART
Pfam:Homez	421	477	3.6e-25	PFAM
low complexity region	481	513	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142283
AA Change: E310G

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

SMART Domains

Protein: ENSMUSP00000117828
Gene: ENSMUSG00000057156
AA Change: E310G

Domain	Start	End	E-Value	Type
HOX	37	93	1.7e-1	SMART
low complexity region	244	261	N/A	INTRINSIC
HOX	327	388	2.24e-6	SMART
Pfam:Homez	421	477	7.3e-31	PFAM
low complexity region	481	513	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146642

SMART Domains

Protein: ENSMUSP00000114619
Gene: ENSMUSG00000057156

Domain	Start	End	E-Value	Type
HOX	37	93	1.7e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176259

SMART Domains

Protein: ENSMUSP00000135648
Gene: ENSMUSG00000057156

Domain	Start	End	E-Value	Type
Blast:HOX	1	37	7e-20	BLAST
PDB:2ECC\|A	1	42	1e-24	PDB
Pfam:Homez	70	126	3.4e-26	PFAM
low complexity region	130	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218311

Predicted Effect

probably benign
Transcript: ENSMUST00000219350

Predicted Effect

probably benign
Transcript: ENSMUST00000219496

Predicted Effect

probably benign
Transcript: ENSMUST00000220403

Predicted Effect

probably benign
Transcript: ENSMUST00000220122

Predicted Effect

probably benign
Transcript: ENSMUST00000219519

Predicted Effect

probably benign
Transcript: ENSMUST00000220208

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,966,091 (GRCm39)	M423K	probably benign	Het
Adamtsl1	T	A	4: 86,255,246 (GRCm39)	W780R	probably damaging	Het
Ago3	A	G	4: 126,311,165 (GRCm39)	I16T	probably benign	Het
Amph	T	A	13: 19,297,316 (GRCm39)	L354*	probably null	Het
Ankk1	G	A	9: 49,338,267 (GRCm39)	L9F	probably benign	Het
Brdt	A	G	5: 107,525,011 (GRCm39)	T851A	probably damaging	Het
Bzw2	A	C	12: 36,170,788 (GRCm39)		probably null	Het
Capn7	A	T	14: 31,081,167 (GRCm39)	I395F	probably damaging	Het
Ccdc146	T	C	5: 21,499,591 (GRCm39)	R864G	possibly damaging	Het
Ccdc50	G	T	16: 27,228,139 (GRCm39)	R102L	possibly damaging	Het
Cep83	T	C	10: 94,622,700 (GRCm39)	V592A	probably damaging	Het
Cgn	G	A	3: 94,685,792 (GRCm39)		probably benign	Het
Cidec	C	A	6: 113,405,086 (GRCm39)	V195L	probably benign	Het
Cntln	A	G	4: 84,923,289 (GRCm39)		probably benign	Het
Cntrob	A	T	11: 69,213,526 (GRCm39)	L88*	probably null	Het
Dnah17	C	T	11: 117,931,912 (GRCm39)	V3687M	probably damaging	Het
Dst	T	C	1: 34,328,729 (GRCm39)	I4599T	probably damaging	Het
Dtl	A	T	1: 191,285,175 (GRCm39)	Y320*	probably null	Het
Fam98b	A	G	2: 117,098,408 (GRCm39)	T293A	probably damaging	Het
Farp1	G	A	14: 121,460,138 (GRCm39)		probably benign	Het
Fat2	G	T	11: 55,202,622 (GRCm39)	P151T	probably damaging	Het
Fbxl17	A	T	17: 63,778,419 (GRCm39)	M497K	probably damaging	Het
Foxn4	T	C	5: 114,396,776 (GRCm39)	T236A	probably damaging	Het
Gm525	C	T	11: 88,979,374 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,386,448 (GRCm39)	T1190K	possibly damaging	Het
H2-T23	T	A	17: 36,341,855 (GRCm39)	M248L	probably benign	Het
Hydin	A	G	8: 111,233,138 (GRCm39)	I1746V	probably benign	Het
Igkv1-35	T	A	6: 69,988,641 (GRCm39)	H6L	probably benign	Het
Kcnt2	T	C	1: 140,356,622 (GRCm39)	S354P	probably damaging	Het
Khdc4	A	G	3: 88,596,599 (GRCm39)	T127A	probably damaging	Het
Klra4	G	T	6: 130,040,141 (GRCm39)	Q44K	probably benign	Het
L3mbtl3	A	G	10: 26,220,119 (GRCm39)		probably benign	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Magea14	A	T	X: 51,057,968 (GRCm39)	Y239*	probably null	Het
Map3k9	A	G	12: 81,790,698 (GRCm39)	I285T	probably damaging	Het
Or4a47	T	A	2: 89,665,858 (GRCm39)	I144L	probably benign	Het
Or6c6	A	G	10: 129,186,552 (GRCm39)	N40S	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,271 (GRCm39)	Q77L	possibly damaging	Het
Pramel20	T	A	4: 143,297,583 (GRCm39)	M1K	probably null	Het
Proser3	A	G	7: 30,239,796 (GRCm39)	V436A	probably benign	Het
Relch	A	G	1: 105,653,524 (GRCm39)	N834S	probably benign	Het
Resf1	T	A	6: 149,230,741 (GRCm39)	C1262*	probably null	Het
Sec24b	C	T	3: 129,795,953 (GRCm39)		probably null	Het
Slc2a2	A	G	3: 28,775,898 (GRCm39)	Q336R	probably benign	Het
Sowahb	T	C	5: 93,191,261 (GRCm39)	D486G	possibly damaging	Het
Spidr	T	C	16: 15,958,724 (GRCm39)	K13E	probably damaging	Het
Tiam2	T	A	17: 3,489,977 (GRCm39)	M786K	probably benign	Het
Tktl2	T	A	8: 66,964,808 (GRCm39)	V122E	probably damaging	Het
Wapl	A	G	14: 34,451,172 (GRCm39)	I729M	possibly damaging	Het
Zbbx	T	C	3: 74,989,153 (GRCm39)	T317A	possibly damaging	Het
Zfp976	A	G	7: 42,262,938 (GRCm39)	C300R	probably damaging	Het

Other mutations in Homez

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Homez	APN	14	55,094,575 (GRCm39)	nonsense	probably null
IGL01780:Homez	APN	14	55,095,355 (GRCm39)	missense	probably damaging	1.00
IGL01951:Homez	APN	14	55,095,633 (GRCm39)	missense	probably damaging	1.00
IGL02466:Homez	APN	14	55,095,559 (GRCm39)	missense	probably damaging	1.00
R1528:Homez	UTSW	14	55,095,162 (GRCm39)	missense	probably benign	0.13
R1702:Homez	UTSW	14	55,094,452 (GRCm39)	missense	probably damaging	0.99
R1804:Homez	UTSW	14	55,094,598 (GRCm39)	missense	probably damaging	1.00
R2422:Homez	UTSW	14	55,095,031 (GRCm39)	missense	probably benign	0.02
R4589:Homez	UTSW	14	55,094,487 (GRCm39)	missense	probably damaging	0.99
R4927:Homez	UTSW	14	55,095,264 (GRCm39)	missense	possibly damaging	0.77
R5240:Homez	UTSW	14	55,095,531 (GRCm39)	missense	probably damaging	1.00
R5958:Homez	UTSW	14	55,094,298 (GRCm39)	missense	probably benign	0.17
R7080:Homez	UTSW	14	55,095,112 (GRCm39)	missense	probably benign	0.02
R7256:Homez	UTSW	14	55,094,877 (GRCm39)	missense	probably damaging	1.00
R7815:Homez	UTSW	14	55,095,675 (GRCm39)	missense	probably benign	0.02
R8017:Homez	UTSW	14	55,095,689 (GRCm39)	missense	probably benign	0.00
R8019:Homez	UTSW	14	55,095,689 (GRCm39)	missense	probably benign	0.00
T0975:Homez	UTSW	14	55,094,796 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TATCGTGTGTCACCAAACCATTG -3'
(R):5'- CCGAACCTAGTGGAATACCTCC -3'

Sequencing Primer
(F):5'- ACCATTGAATGATCTCCGGG -3'
(R):5'- GGAATACCTCCATCTTCCTCTAC -3'

Posted On

2015-02-05