Mutagenetix > Incidental Mutations

Incidental Mutation 'R1489:Hlx'

163578

Institutional Source

Beutler Lab

Gene Symbol

Hlx

Ensembl Gene

ENSMUSG00000039377

Gene Name

H2.0-like homeobox

Synonyms

Hlx1

MMRRC Submission

039541-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1489 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

184727140-184732619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 184731987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 52 (A52D)

Ref Sequence

ENSEMBL: ENSMUSP00000040505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048572] [ENSMUST00000174257]

AlphaFold

Q61670

Predicted Effect

probably damaging
Transcript: ENSMUST00000048572
AA Change: A52D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040505
Gene: ENSMUSG00000039377
AA Change: A52D

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	123	149	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
HOX	271	335	2.32e-22	SMART
low complexity region	353	379	N/A	INTRINSIC
low complexity region	405	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174257

SMART Domains

Protein: ENSMUSP00000134728
Gene: ENSMUSG00000039377

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	123	149	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
low complexity region	221	271	N/A	INTRINSIC
low complexity region	344	357	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192139

Meta Mutation Damage Score

0.0763

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for disrputions in this gene die as embryos as a result of defective organogenesis and fetal 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
2700097O09Rik	A	G	12: 55,059,510	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,505,457	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,686,300		probably null	Het
Adam39	A	G	8: 40,824,994	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,491,451	S629R	probably benign	Het
Ap3b2	C	A	7: 81,463,690	E924*	probably null	Het
Armc3	A	T	2: 19,310,047	Y856F	probably benign	Het
Asap1	A	G	15: 64,172,730	L142P	probably damaging	Het
Atg9a	T	A	1: 75,186,090	D427V	probably damaging	Het
Atl2	G	A	17: 79,852,706	A17V	probably benign	Het
Atxn2l	A	T	7: 126,496,467	S379T	probably damaging	Het
C1ql3	G	T	2: 13,010,642	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,609,635	I114F	probably damaging	Het
Cox16	T	C	12: 81,474,615	N135S	probably null	Het
Dnajc13	A	T	9: 104,231,035	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,725,410	Y73*	probably null	Het
Duox2	T	A	2: 122,293,396	M436L	probably benign	Het
Exoc6	T	A	19: 37,597,120	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,812,817		probably benign	Het
Fmn1	T	A	2: 113,365,212	V419E	unknown	Het
Fndc4	T	C	5: 31,293,451	*232W	probably null	Het
Foxc1	C	T	13: 31,808,612	R469*	probably null	Het
Fsip2	A	G	2: 82,979,811	H2158R	probably benign	Het
Ghdc	C	T	11: 100,768,257	G373D	probably benign	Het
Gm10330	A	T	12: 23,780,031	S50T	probably benign	Het
Gm8251	A	G	1: 44,057,790	F1383L	probably benign	Het
Gm8251	T	C	1: 44,061,507	I144V	probably benign	Het
Lonrf1	A	G	8: 36,222,954	V650A	probably damaging	Het
Map1a	T	C	2: 121,300,437	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,393,906	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,027,519	K175R	probably benign	Het
Mia3	A	G	1: 183,338,674	S85P	probably benign	Het
Myrip	T	C	9: 120,432,529	F403L	probably damaging	Het
Nox4	A	G	7: 87,304,889	Y134C	probably damaging	Het
Numb	A	G	12: 83,795,443	L642P	probably damaging	Het
Pappa	A	T	4: 65,180,948	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,677,712	L333P	probably benign	Het
Prl	A	T	13: 27,057,636	S3C	probably damaging	Het
Ptprc	T	C	1: 138,120,086	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Smpd1	T	C	7: 105,556,554		probably null	Het
Spta1	A	G	1: 174,231,325	E1942G	probably damaging	Het
Tmem38a	A	G	8: 72,579,635	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,507,525	Y232*	probably null	Het
Tpte	T	C	8: 22,349,389		probably null	Het
Virma	T	C	4: 11,521,164	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,754,556	Q216*	probably null	Het
Zswim3	T	C	2: 164,819,981	V127A	probably benign	Het

Other mutations in Hlx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Hlx	APN	1	184731595	missense	probably damaging	1.00
IGL01074:Hlx	APN	1	184727813	missense	probably damaging	1.00
IGL02543:Hlx	APN	1	184730751	missense	probably damaging	1.00
R0522:Hlx	UTSW	1	184731640	missense	probably damaging	1.00
R1104:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1157:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1158:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1285:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1286:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1439:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1606:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1974:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R1976:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R2161:Hlx	UTSW	1	184727641	missense	probably benign	0.12
R2162:Hlx	UTSW	1	184730692	splice site	probably null
R2340:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R2341:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R3237:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R3781:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R3782:Hlx	UTSW	1	184731987	missense	probably damaging	0.99
R5705:Hlx	UTSW	1	184730865	missense	probably benign	0.40
R5738:Hlx	UTSW	1	184731557	critical splice donor site	probably null
R6081:Hlx	UTSW	1	184727697	missense	probably benign
R7323:Hlx	UTSW	1	184730796	missense	probably benign	0.00
R7373:Hlx	UTSW	1	184730865	missense	probably benign	0.40
R7908:Hlx	UTSW	1	184727576	missense	probably benign
R7938:Hlx	UTSW	1	184731928	missense	probably benign	0.00
R7985:Hlx	UTSW	1	184732026	missense	probably benign	0.00
R8303:Hlx	UTSW	1	184727708	missense	probably damaging	1.00
X0018:Hlx	UTSW	1	184727732	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGCCAGCCGGGACTTCTGAG -3'
(R):5'- GCCGCCTTTCAAGCCAAGCC -3'

Sequencing Primer
(F):5'- CCCAAGTGTGCGGTGAG -3'
(R):5'- TTTCAAGCCAAGCCAGGGG -3'

Posted On

2014-03-28