Mutagenetix > Incidental Mutation

Incidental Mutation 'R1606:Hlx'

176449

Institutional Source

Beutler Lab

Gene Symbol

Hlx

Ensembl Gene

ENSMUSG00000039377

Gene Name

H2.0-like homeobox

Synonyms

Hlx1

MMRRC Submission

039643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1606 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

184459340-184464690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 184464184 bp (GRCm39)

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: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,825,091 (GRCm39)	D1459G	probably damaging	Het
Adhfe1	G	A	1: 9,623,698 (GRCm39)		probably null	Het
Adsl	C	T	15: 80,836,425 (GRCm39)	Q61*	probably null	Het
Arhgap26	T	A	18: 39,429,925 (GRCm39)	C214S	probably damaging	Het
Armc8	A	T	9: 99,419,782 (GRCm39)	N9K	probably damaging	Het
Asxl1	A	G	2: 153,242,375 (GRCm39)	D975G	probably damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Bltp1	G	A	3: 36,996,548 (GRCm39)	D1087N	probably damaging	Het
Cdcp2	T	C	4: 106,959,710 (GRCm39)	S42P	probably damaging	Het
Chek1	A	G	9: 36,630,820 (GRCm39)	L198P	probably damaging	Het
Dlc1	A	G	8: 37,317,406 (GRCm39)	V423A	probably benign	Het
Dpy19l2	A	G	9: 24,492,511 (GRCm39)	S696P	probably benign	Het
Echdc3	A	T	2: 6,200,438 (GRCm39)	C183S	possibly damaging	Het
Exph5	A	C	9: 53,285,595 (GRCm39)	D892A	probably benign	Het
Fam120b	T	A	17: 15,622,073 (GRCm39)	I17K	possibly damaging	Het
Fbln5	C	T	12: 101,731,457 (GRCm39)	D246N	probably benign	Het
Fbxo15	A	C	18: 84,980,745 (GRCm39)	K195T	possibly damaging	Het
Fzd1	C	A	5: 4,807,514 (GRCm39)	E23*	probably null	Het
Gas2l1	C	A	11: 5,014,434 (GRCm39)	A9S	probably damaging	Het
Gcc2	C	T	10: 58,105,270 (GRCm39)	L69F	probably damaging	Het
Ggt6	C	T	11: 72,328,559 (GRCm39)	A353V	possibly damaging	Het
Gphn	T	A	12: 78,730,657 (GRCm39)	V764E	probably damaging	Het
Grid1	A	T	14: 35,167,922 (GRCm39)	Y482F	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,444 (GRCm39)	V338M	probably benign	Het
Klhl14	T	A	18: 21,698,589 (GRCm39)	Q408L	possibly damaging	Het
Lacc1	T	A	14: 77,267,081 (GRCm39)	Q394L	probably benign	Het
Lcor	T	G	19: 41,573,513 (GRCm39)	M756R	probably benign	Het
Lipe	A	G	7: 25,087,569 (GRCm39)	F477L	probably damaging	Het
Lrig2	A	G	3: 104,387,423 (GRCm39)		probably null	Het
Megf8	T	A	7: 25,058,120 (GRCm39)	H2131Q	probably damaging	Het
Nek1	A	G	8: 61,577,310 (GRCm39)	D1097G	possibly damaging	Het
Nhlrc3	A	T	3: 53,366,078 (GRCm39)	Y138*	probably null	Het
Nudcd2	T	A	11: 40,626,834 (GRCm39)		probably null	Het
Numb	T	C	12: 83,847,784 (GRCm39)		probably null	Het
Or7h8	T	G	9: 20,124,242 (GRCm39)	L199R	probably benign	Het
Pacrg	G	A	17: 11,058,725 (GRCm39)	Q11*	probably null	Het
Ppp1r37	A	T	7: 19,268,924 (GRCm39)	M192K	probably damaging	Het
Prmt8	T	A	6: 127,666,799 (GRCm39)	K392*	probably null	Het
Rab28	A	T	5: 41,855,795 (GRCm39)	W67R	probably damaging	Het
Rad21l	C	T	2: 151,496,606 (GRCm39)	C365Y	probably damaging	Het
Rbm17	A	T	2: 11,600,208 (GRCm39)	F147I	probably benign	Het
Rbm46	A	C	3: 82,771,848 (GRCm39)	F256V	probably damaging	Het
Rcc1	A	T	4: 132,062,087 (GRCm39)		probably null	Het
Rnf217	G	T	10: 31,410,807 (GRCm39)	T296N	possibly damaging	Het
Rnmt	A	G	18: 68,444,724 (GRCm39)	D231G	possibly damaging	Het
Rph3al	C	T	11: 75,797,367 (GRCm39)	V110I	probably damaging	Het
Rxfp2	T	C	5: 149,983,362 (GRCm39)	M289T	probably benign	Het
Sash1	T	C	10: 8,605,721 (GRCm39)	R890G	probably benign	Het
Sf3b2	A	T	19: 5,338,026 (GRCm39)	D245E	probably benign	Het
Skint9	A	T	4: 112,246,398 (GRCm39)	V238E	probably benign	Het
Slc26a8	T	A	17: 28,857,455 (GRCm39)	D896V	possibly damaging	Het
Slc35b4	T	A	6: 34,135,323 (GRCm39)	K330*	probably null	Het
Slco1a4	G	T	6: 141,785,337 (GRCm39)	H84Q	probably damaging	Het
Sptbn2	G	T	19: 4,800,270 (GRCm39)		probably null	Het
St6galnac3	A	T	3: 152,912,305 (GRCm39)	D227E	probably benign	Het
Tek	G	A	4: 94,738,004 (GRCm39)	D685N	probably damaging	Het
Trf	G	T	9: 103,102,335 (GRCm39)		probably null	Het
Trpm5	T	A	7: 142,638,908 (GRCm39)	K288*	probably null	Het
Ttn	C	T	2: 76,567,356 (GRCm39)	V27846I	probably damaging	Het
Tyr	A	T	7: 87,087,179 (GRCm39)	D444E	probably benign	Het
Ucp1	C	A	8: 84,021,933 (GRCm39)	A255E	probably damaging	Het
Ush2a	A	G	1: 188,491,963 (GRCm39)	D3084G	probably benign	Het
Yeats4	T	C	10: 117,053,344 (GRCm39)	Y139C	probably damaging	Het
Zbtb6	A	G	2: 37,319,130 (GRCm39)	V266A	probably benign	Het
Zfp784	A	T	7: 5,038,774 (GRCm39)	N261K	possibly damaging	Het

Other mutations in Hlx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Hlx	APN	1	184,463,792 (GRCm39)	missense	probably damaging	1.00
IGL01074:Hlx	APN	1	184,460,010 (GRCm39)	missense	probably damaging	1.00
IGL02543:Hlx	APN	1	184,462,948 (GRCm39)	missense	probably damaging	1.00
R0522:Hlx	UTSW	1	184,463,837 (GRCm39)	missense	probably damaging	1.00
R1104:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1157:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1158:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1285:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1286:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1439:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1489:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1974:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R1976:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R2161:Hlx	UTSW	1	184,459,838 (GRCm39)	missense	probably benign	0.12
R2162:Hlx	UTSW	1	184,462,889 (GRCm39)	splice site	probably null
R2340:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R2341:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R3237:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R3781:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R3782:Hlx	UTSW	1	184,464,184 (GRCm39)	missense	probably damaging	0.99
R5705:Hlx	UTSW	1	184,463,062 (GRCm39)	missense	probably benign	0.40
R5738:Hlx	UTSW	1	184,463,754 (GRCm39)	critical splice donor site	probably null
R6081:Hlx	UTSW	1	184,459,894 (GRCm39)	missense	probably benign
R7323:Hlx	UTSW	1	184,462,993 (GRCm39)	missense	probably benign	0.00
R7373:Hlx	UTSW	1	184,463,062 (GRCm39)	missense	probably benign	0.40
R7908:Hlx	UTSW	1	184,459,773 (GRCm39)	missense	probably benign
R7938:Hlx	UTSW	1	184,464,125 (GRCm39)	missense	probably benign	0.00
R7985:Hlx	UTSW	1	184,464,223 (GRCm39)	missense	probably benign	0.00
R8303:Hlx	UTSW	1	184,459,905 (GRCm39)	missense	probably damaging	1.00
X0018:Hlx	UTSW	1	184,459,929 (GRCm39)	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

2014-04-24