Mutagenetix > Incidental Mutation

Incidental Mutation 'R0962:Hmbox1'

81316

Institutional Source

Beutler Lab

Gene Symbol

Hmbox1

Ensembl Gene

ENSMUSG00000021972

Gene Name

homeobox containing 1

Synonyms

F830020C16Rik

MMRRC Submission

039091-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R0962 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65049049-65187320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65134223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 126 (S126T)

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 benign
Transcript: ENSMUST00000022544
AA Change: S126T

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

SMART Domains

Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
AA Change: S126T

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 benign
Transcript: ENSMUST00000067843
AA Change: S126T

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

SMART Domains

Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
AA Change: S126T

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 benign
Transcript: ENSMUST00000175744
AA Change: S126T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
AA Change: S126T

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 benign
Transcript: ENSMUST00000175905
AA Change: S126T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: S126T

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 benign
Transcript: ENSMUST00000176128
AA Change: S126T

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

SMART Domains

Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
AA Change: S126T

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

probably benign
Transcript: ENSMUST00000176489
AA Change: S126T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
AA Change: S126T

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

noncoding transcript
Transcript: ENSMUST00000176657

Predicted Effect

probably benign
Transcript: ENSMUST00000176832
AA Change: S126T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
AA Change: S126T

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: S127T

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.9%
20x: 96.0%

Validation Efficiency

100% (56/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,202,129 (GRCm39)	A196T	probably damaging	Het
Adamtsl4	T	A	3: 95,591,798 (GRCm39)	R97*	probably null	Het
Adgrv1	T	C	13: 81,553,465 (GRCm39)	I5470V	probably benign	Het
Afg3l2	T	C	18: 67,538,497 (GRCm39)	T754A	possibly damaging	Het
Agfg1	T	C	1: 82,864,117 (GRCm39)	F395S	probably damaging	Het
Ahnak	A	G	19: 8,990,212 (GRCm39)		probably benign	Het
Alkbh2	T	C	5: 114,262,014 (GRCm39)	K239E	possibly damaging	Het
Ankmy1	A	T	1: 92,827,290 (GRCm39)	C87*	probably null	Het
Apob	A	G	12: 8,039,191 (GRCm39)	I461V	probably damaging	Het
Arap1	C	T	7: 101,034,121 (GRCm39)	P188S	possibly damaging	Het
Atp12a	G	A	14: 56,605,870 (GRCm39)	E64K	probably damaging	Het
Brca1	A	T	11: 101,416,192 (GRCm39)	H647Q	possibly damaging	Het
Cachd1	A	G	4: 100,840,498 (GRCm39)		probably benign	Het
Cep57	A	T	9: 13,720,039 (GRCm39)	V429D	possibly damaging	Het
Cfap299	T	C	5: 98,714,420 (GRCm39)		probably benign	Het
Dip2a	T	C	10: 76,128,266 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,353,696 (GRCm39)	N757K	probably damaging	Het
Dock7	G	A	4: 98,833,432 (GRCm39)	T1953I	possibly damaging	Het
Ebf3	T	C	7: 136,826,932 (GRCm39)	T111A	probably damaging	Het
Ercc4	T	C	16: 12,948,010 (GRCm39)	I319T	probably damaging	Het
Fat1	T	C	8: 45,486,363 (GRCm39)		probably benign	Het
Gucy2g	C	T	19: 55,198,716 (GRCm39)	W809*	probably null	Het
Hhipl1	A	G	12: 108,293,980 (GRCm39)	K629E	probably benign	Het
Htr1a	A	G	13: 105,580,832 (GRCm39)	N24S	probably benign	Het
Htra3	T	A	5: 35,825,700 (GRCm39)	I185F	probably damaging	Het
Impg1	C	T	9: 80,289,023 (GRCm39)	D345N	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm7a	A	G	6: 39,124,128 (GRCm39)	V720A	probably benign	Het
Kirrel3	A	G	9: 34,912,293 (GRCm39)	D212G	possibly damaging	Het
Lgals3bp	A	T	11: 118,283,846 (GRCm39)	*139K	probably null	Het
Lrp11	T	A	10: 7,466,060 (GRCm39)	V82D	probably benign	Het
Mcf2l	T	C	8: 13,051,964 (GRCm39)	Y425H	probably benign	Het
Mfn2	T	C	4: 147,966,658 (GRCm39)	N511S	probably benign	Het
Mical2	T	C	7: 111,979,624 (GRCm39)	S108P	probably damaging	Het
Ms4a6c	C	T	19: 11,448,506 (GRCm39)	T13M	probably benign	Het
Naip2	C	A	13: 100,315,893 (GRCm39)	V296F	probably damaging	Het
Or2d36	T	A	7: 106,747,294 (GRCm39)	F257Y	possibly damaging	Het
Or51a5	A	G	7: 102,771,217 (GRCm39)	V254A	possibly damaging	Het
Or7e175	T	A	9: 20,048,834 (GRCm39)	C141S	probably damaging	Het
P3h2	T	C	16: 25,815,998 (GRCm39)	M172V	probably benign	Het
Pcolce2	T	G	9: 95,552,087 (GRCm39)	N73K	probably benign	Het
Pla2g4d	A	G	2: 120,111,098 (GRCm39)		probably null	Het
Ppfia3	A	G	7: 44,997,146 (GRCm39)		probably benign	Het
Ptprcap	A	G	19: 4,206,463 (GRCm39)	D182G	possibly damaging	Het
Rabgap1	T	C	2: 37,450,481 (GRCm39)		probably benign	Het
Rpain	G	A	11: 70,865,867 (GRCm39)		probably null	Het
Sdk1	C	T	5: 142,147,630 (GRCm39)	T1754I	probably damaging	Het
Stag1	T	A	9: 100,678,880 (GRCm39)	L267Q	probably damaging	Het
Tex9	T	C	9: 72,391,374 (GRCm39)	T92A	probably benign	Het
Trpa1	T	A	1: 14,968,387 (GRCm39)	I460F	possibly damaging	Het
Ttn	A	T	2: 76,780,500 (GRCm39)	Y1084N	probably damaging	Het
Utp6	A	G	11: 79,832,694 (GRCm39)		probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	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
R1144:Hmbox1	UTSW	14	65,063,132 (GRCm39)	missense	probably damaging	1.00
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

PCR Primer
(F):5'- GCACTGATTGAAATGCTGCAAGGG -3'
(R):5'- GGGAACAGTACCAACAACGTTCCAG -3'

Sequencing Primer
(F):5'- CTGTCAGGAACTGTCTGCTAAAG -3'
(R):5'- GCATCTTCCTCTACAGCCACAG -3'

Posted On

2013-11-07