Mutagenetix > Incidental Mutation

Incidental Mutation 'R7302:Hmbox1'

567064

Institutional Source

Beutler Lab

Gene Symbol

Hmbox1

Ensembl Gene

ENSMUSG00000021972

Gene Name

homeobox containing 1

Synonyms

F830020C16Rik

MMRRC Submission

045406-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R7302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65049049-65187320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65066115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 285 (Y285C)

Ref Sequence

ENSEMBL: ENSMUSP00000022544 (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: Y285C

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

SMART Domains

Protein: ENSMUSP00000022544
Gene: ENSMUSG00000021972
AA Change: Y285C

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: Y285C

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

SMART Domains

Protein: ENSMUSP00000066905
Gene: ENSMUSG00000021972
AA Change: Y285C

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: Y285C

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

SMART Domains

Protein: ENSMUSP00000135272
Gene: ENSMUSG00000021972
AA Change: Y285C

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: Y285C

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

SMART Domains

Protein: ENSMUSP00000135657
Gene: ENSMUSG00000021972
AA Change: Y285C

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: Y285C

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

SMART Domains

Protein: ENSMUSP00000135448
Gene: ENSMUSG00000021972
AA Change: Y285C

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 damaging
Transcript: ENSMUST00000176489
AA Change: Y285C

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

SMART Domains

Protein: ENSMUSP00000134824
Gene: ENSMUSG00000021972
AA Change: Y285C

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: Y285C

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

SMART Domains

Protein: ENSMUSP00000135211
Gene: ENSMUSG00000021972
AA Change: Y285C

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

Meta Mutation Damage Score

0.4394

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,306 (GRCm39)	P69S	probably benign	Het
Adam17	A	G	12: 21,405,694 (GRCm39)		probably benign	Het
Bcl7a	T	A	5: 123,482,757 (GRCm39)	M22K	probably benign	Het
C6	T	A	15: 4,826,432 (GRCm39)	C672S	probably damaging	Het
Capn11	C	T	17: 45,954,738 (GRCm39)	R133H	probably damaging	Het
Ccdc102a	A	G	8: 95,640,066 (GRCm39)	L76P	probably damaging	Het
Cfhr4	T	C	1: 139,667,436 (GRCm39)		probably null	Het
Cotl1	T	G	8: 120,537,040 (GRCm39)	I125L	probably benign	Het
Dennd5a	A	T	7: 109,504,906 (GRCm39)	M868K	probably damaging	Het
Depdc5	T	C	5: 33,136,852 (GRCm39)	I1374T	probably damaging	Het
Dhx36	T	C	3: 62,386,814 (GRCm39)	Y646C	probably benign	Het
Ecpas	T	C	4: 58,834,593 (GRCm39)	K762E	probably benign	Het
Egln2	A	G	7: 26,864,310 (GRCm39)	V205A	probably damaging	Het
Eri2	T	A	7: 119,386,009 (GRCm39)	M229L	probably benign	Het
Fancf	C	A	7: 51,511,452 (GRCm39)	R184L	probably damaging	Het
Fancl	A	T	11: 26,353,363 (GRCm39)	E86D	probably damaging	Het
Fignl2	T	C	15: 100,951,259 (GRCm39)	D341G	unknown	Het
Gm14410	A	T	2: 176,885,648 (GRCm39)	H205Q	probably damaging	Het
Haus1	T	C	18: 77,848,666 (GRCm39)	N181D	probably benign	Het
Igkv3-9	A	G	6: 70,565,739 (GRCm39)	M113V	probably benign	Het
Ivd	T	C	2: 118,701,985 (GRCm39)	V139A	probably benign	Het
Limch1	A	T	5: 67,116,942 (GRCm39)	Y119F	probably benign	Het
Lrp1	C	T	10: 127,374,856 (GRCm39)	R4534Q	probably benign	Het
Mbd3l2	G	A	9: 18,355,738 (GRCm39)	S21N	probably benign	Het
Mob1b	A	G	5: 88,901,036 (GRCm39)	N148D	probably benign	Het
Mylk4	A	T	13: 32,904,548 (GRCm39)	D195E	probably benign	Het
Ndufa7	T	C	17: 34,048,687 (GRCm39)	S50P	probably benign	Het
Nectin4	G	T	1: 171,214,203 (GRCm39)	E453*	probably null	Het
Nell1	T	G	7: 50,506,017 (GRCm39)	F741L	probably benign	Het
Ntng1	T	A	3: 109,739,933 (GRCm39)	H369L	possibly damaging	Het
Plin4	T	A	17: 56,409,330 (GRCm39)	M1297L	probably benign	Het
Pnp	G	A	14: 51,188,404 (GRCm39)	V193M	probably damaging	Het
Ppp1r10	T	G	17: 36,241,773 (GRCm39)	S849R	unknown	Het
Rpgrip1	A	G	14: 52,387,012 (GRCm39)	E981G	unknown	Het
Sbsn	T	C	7: 30,451,309 (GRCm39)	F108S	probably benign	Het
Scn11a	A	G	9: 119,636,017 (GRCm39)	M310T	probably benign	Het
Sf3b1	A	G	1: 55,055,949 (GRCm39)	S97P	probably benign	Het
Sgsh	A	G	11: 119,238,525 (GRCm39)	V313A	probably benign	Het
Slc25a10	G	T	11: 120,382,782 (GRCm39)		probably benign	Het
Slc9a2	T	A	1: 40,806,828 (GRCm39)	V705E	possibly damaging	Het
Surf2	G	T	2: 26,808,894 (GRCm39)	C116F	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,698 (GRCm39)	I175T	probably benign	Het
Tnxb	C	T	17: 34,897,875 (GRCm39)	T841I	probably benign	Het
Ttll3	A	G	6: 113,386,246 (GRCm39)	D693G	probably damaging	Het
Ust	A	G	10: 8,393,973 (GRCm39)	L64P	probably damaging	Het
Vmn1r77	C	T	7: 11,775,983 (GRCm39)	S253F	possibly damaging	Het
Vmn2r66	A	G	7: 84,654,423 (GRCm39)	M512T	probably benign	Het
Zfp13	C	T	17: 23,800,036 (GRCm39)	G89D	probably damaging	Het
Zfp616	T	A	11: 73,976,205 (GRCm39)	Y825N	probably benign	Het
Zfp865	A	G	7: 5,032,252 (GRCm39)	Y79C	possibly damaging	Het
Zfyve26	A	T	12: 79,297,942 (GRCm39)	F1916I	probably damaging	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
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
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'- GCACTTGACTCATGCCATGG -3'
(R):5'- TAGTAATTTCAGTGAAGTGGAAGGC -3'

Sequencing Primer
(F):5'- AGCTCATACCTTACCTGG -3'
(R):5'- AGCTTCCTCTCAAGTACAAGTGGG -3'

Posted On

2019-06-26