Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Hmbox1'

102319

Institutional Source

Beutler Lab

Gene Symbol

Hmbox1

Ensembl Gene

ENSMUSG00000021972

Gene Name

homeobox containing 1

Synonyms

F830020C16Rik

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R1144 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

65049049-65187320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65063132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 347 (L347Q)

Ref Sequence

ENSEMBL: ENSMUSP00000135211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022544] [ENSMUST00000067843] [ENSMUST00000175744] [ENSMUST00000175905] [ENSMUST00000176128] [ENSMUST00000176489] [ENSMUST00000176832]

AlphaFold

Q8BJA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022544
AA Change: L348Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
AA Change: L348Q

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	19	231	2.3e-15	PFAM
HOX	267	344	6.18e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000067843
AA Change: L347Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
AA Change: L347Q

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	19	231	2.5e-15	PFAM
HOX	267	344	8.74e-9	SMART
low complexity region	372	385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175744
AA Change: L347Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
AA Change: L347Q

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	19	231	1.4e-15	PFAM
HOX	267	344	8.74e-9	SMART
low complexity region	382	404	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175905
AA Change: L348Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: L348Q

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	19	231	1.5e-15	PFAM
HOX	267	344	6.18e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176128
AA Change: L348Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
AA Change: L348Q

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	25	227	4.4e-66	PFAM
HOX	267	344	6.18e-9	SMART
low complexity region	373	386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176386

Predicted Effect

probably damaging
Transcript: ENSMUST00000176489
AA Change: L316Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
AA Change: L316Q

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	19	231	1.1e-15	PFAM
HOX	267	355	1.89e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176832
AA Change: L347Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
AA Change: L347Q

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	19	231	1.4e-15	PFAM
HOX	267	344	8.74e-9	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000177326
AA Change: L348Q

Meta Mutation Damage Score

0.7367

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit absence of TERT binding to chromatin as shown by subcellular fractionation analysis of mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,083 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,241,188 (GRCm39)		probably benign	Het
Acsl5	A	C	19: 55,280,275 (GRCm39)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,087,400 (GRCm39)	A425T	probably damaging	Het
Aebp1	A	G	11: 5,818,475 (GRCm39)	T107A	probably benign	Het
Arhgef33	T	C	17: 80,662,473 (GRCm39)	S219P	probably benign	Het
Atm	T	G	9: 53,422,998 (GRCm39)		probably benign	Het
C1ql2	A	C	1: 120,270,266 (GRCm39)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,527,595 (GRCm39)		probably null	Het
Cmbl	A	G	15: 31,582,020 (GRCm39)	N6D	probably benign	Het
Cntn3	A	G	6: 102,219,087 (GRCm39)	V511A	possibly damaging	Het
Coq9	C	A	8: 95,569,251 (GRCm39)	R28S	probably benign	Het
Creld1	T	C	6: 113,460,922 (GRCm39)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,623,764 (GRCm39)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,052,131 (GRCm39)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,362,238 (GRCm39)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 77,887,739 (GRCm39)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr1	T	G	8: 26,048,159 (GRCm39)	V172G	probably damaging	Het
Frem3	C	A	8: 81,338,513 (GRCm39)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,923,942 (GRCm39)	H67N	probably damaging	Het
Fry	A	G	5: 150,341,929 (GRCm39)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,891,375 (GRCm39)	S243R	probably benign	Het
Grid1	A	G	14: 35,284,633 (GRCm39)		probably benign	Het
Grp	A	G	18: 66,013,041 (GRCm39)	D69G	probably damaging	Het
Hsh2d	C	T	8: 72,947,436 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,333,897 (GRCm39)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,951,566 (GRCm39)	V69D	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lmcd1	T	A	6: 112,287,712 (GRCm39)		probably benign	Het
Megf9	C	A	4: 70,452,861 (GRCm39)	A67S	probably benign	Het
Myo5b	G	A	18: 74,758,658 (GRCm39)	R213H	probably damaging	Het
Myo5c	T	A	9: 75,193,730 (GRCm39)	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,181,103 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,688,849 (GRCm39)	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,190,705 (GRCm39)	H58R	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Plxna4	A	T	6: 32,174,091 (GRCm39)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,777,183 (GRCm39)	D483G	probably benign	Het
Prdm15	G	A	16: 97,609,908 (GRCm39)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,410,342 (GRCm39)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,261,081 (GRCm39)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,772,638 (GRCm39)		probably benign	Het
Sned1	G	C	1: 93,208,298 (GRCm39)	G785R	probably damaging	Het
Stat4	A	G	1: 52,123,288 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,013,298 (GRCm39)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,963,200 (GRCm39)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,026 (GRCm39)		probably benign	Het
Tmem63b	T	A	17: 45,977,353 (GRCm39)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Trub1	G	A	19: 57,473,563 (GRCm39)	V207M	probably benign	Het
Ulk2	A	T	11: 61,690,886 (GRCm39)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,573,206 (GRCm39)		probably null	Het
Vmn1r219	C	A	13: 23,347,383 (GRCm39)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 63,997,541 (GRCm39)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,312,098 (GRCm39)		probably benign	Het
Wars1	A	T	12: 108,854,291 (GRCm39)	L41*	probably null	Het
Washc2	G	A	6: 116,201,495 (GRCm39)	E64K	probably damaging	Het
Washc4	G	A	10: 83,416,194 (GRCm39)	R828Q	probably damaging	Het
Wdr59	A	T	8: 112,213,576 (GRCm39)	M313K	probably benign	Het
Wscd2	G	A	5: 113,699,151 (GRCm39)		probably null	Het
Zdhhc20	A	C	14: 58,094,135 (GRCm39)	L176V	probably benign	Het

Other mutations in Hmbox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03183:Hmbox1	APN	14	65,125,048 (GRCm39)	missense	probably damaging	1.00
R0962:Hmbox1	UTSW	14	65,134,223 (GRCm39)	missense	probably benign	0.00
R1467:Hmbox1	UTSW	14	65,099,027 (GRCm39)	missense	possibly damaging	0.90
R1467:Hmbox1	UTSW	14	65,099,027 (GRCm39)	missense	possibly damaging	0.90
R1856:Hmbox1	UTSW	14	65,066,097 (GRCm39)	missense	probably damaging	1.00
R2101:Hmbox1	UTSW	14	65,066,028 (GRCm39)	splice site	probably benign
R3707:Hmbox1	UTSW	14	65,134,285 (GRCm39)	missense	probably benign	0.02
R4531:Hmbox1	UTSW	14	65,062,938 (GRCm39)	missense	probably benign
R4570:Hmbox1	UTSW	14	65,061,111 (GRCm39)	missense	possibly damaging	0.95
R4572:Hmbox1	UTSW	14	65,140,682 (GRCm39)	splice site	probably null
R4740:Hmbox1	UTSW	14	65,134,483 (GRCm39)	missense	probably damaging	1.00
R4807:Hmbox1	UTSW	14	65,062,998 (GRCm39)	intron	probably benign
R5112:Hmbox1	UTSW	14	65,063,061 (GRCm39)	missense	probably damaging	1.00
R5327:Hmbox1	UTSW	14	65,134,144 (GRCm39)	missense	possibly damaging	0.77
R5575:Hmbox1	UTSW	14	65,060,613 (GRCm39)	missense	probably benign
R5928:Hmbox1	UTSW	14	65,061,122 (GRCm39)	missense	possibly damaging	0.55
R6934:Hmbox1	UTSW	14	65,134,281 (GRCm39)	missense	probably benign	0.33
R7155:Hmbox1	UTSW	14	65,134,486 (GRCm39)	missense	probably damaging	1.00
R7302:Hmbox1	UTSW	14	65,066,115 (GRCm39)	missense	probably damaging	1.00
R7499:Hmbox1	UTSW	14	65,134,126 (GRCm39)	missense	possibly damaging	0.76
R8361:Hmbox1	UTSW	14	65,134,289 (GRCm39)	missense	possibly damaging	0.86
R8708:Hmbox1	UTSW	14	65,061,089 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2014-01-15