Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:Hbp1'

582581

Institutional Source

Beutler Lab

Gene Symbol

Hbp1

Ensembl Gene

ENSMUSG00000002996

Gene Name

high mobility group box transcription factor 1

Synonyms

C86454, C330012F01Rik, 1700058O05Rik

MMRRC Submission

045591-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31976449-32000529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31983374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 360 (V360D)

Ref Sequence

ENSEMBL: ENSMUSP00000131158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036862] [ENSMUST00000167458] [ENSMUST00000172314] [ENSMUST00000175686] [ENSMUST00000176084] [ENSMUST00000176103] [ENSMUST00000176520] [ENSMUST00000218428] [ENSMUST00000219837]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036862

SMART Domains

Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
Pfam:COG5	35	158	3.8e-37	PFAM
Pfam:Vps51	37	120	1.8e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167458
AA Change: V360D

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

SMART Domains

Protein: ENSMUSP00000131983
Gene: ENSMUSG00000002996
AA Change: V360D

Domain	Start	End	E-Value	Type
low complexity region	162	176	N/A	INTRINSIC
AXH	220	350	1.35e-88	SMART
PDB:1S5R\|A	368	390	6e-7	PDB
low complexity region	406	424	N/A	INTRINSIC
PDB:2E6O\|A	437	474	6e-20	PDB
SCOP:d1cg7a_	443	474	2e-9	SMART
Blast:HMG	445	474	3e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000172314
AA Change: V360D

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

SMART Domains

Protein: ENSMUSP00000131158
Gene: ENSMUSG00000002996
AA Change: V360D

Domain	Start	End	E-Value	Type
low complexity region	162	176	N/A	INTRINSIC
AXH	220	350	1.35e-88	SMART
PDB:1S5R\|A	368	390	7e-7	PDB
low complexity region	406	424	N/A	INTRINSIC
HMG	445	515	8.7e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000175686
AA Change: V364D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135080
Gene: ENSMUSG00000002996
AA Change: V364D

Domain	Start	End	E-Value	Type
low complexity region	166	180	N/A	INTRINSIC
AXH	224	354	1.35e-88	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176084

SMART Domains

Protein: ENSMUSP00000135489
Gene: ENSMUSG00000002996

Domain	Start	End	E-Value	Type
low complexity region	152	166	N/A	INTRINSIC
PDB:3QVE\|C	206	230	7e-10	PDB
Blast:AXH	210	230	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176103

SMART Domains

Protein: ENSMUSP00000135508
Gene: ENSMUSG00000002996

Domain	Start	End	E-Value	Type
low complexity region	162	176	N/A	INTRINSIC
PDB:1V06\|A	218	265	1e-28	PDB
Blast:AXH	220	265	1e-25	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176520

SMART Domains

Protein: ENSMUSP00000135155
Gene: ENSMUSG00000002996

Domain	Start	End	E-Value	Type
low complexity region	152	166	N/A	INTRINSIC
Pfam:AXH	215	288	3.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218428

Predicted Effect

probably benign
Transcript: ENSMUST00000219837

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: Mice heterozygous for a gene trapped allele have behavioral abnormalities and show alterations in leukocyte, platelet and NK cell number, blood urea nitrogen levels, and circulating amylase and calcium levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,155 (GRCm39)	R132K		Het
Acaca	T	C	11: 84,136,682 (GRCm39)	S571P	probably damaging	Het
Adamts20	T	G	15: 94,223,869 (GRCm39)	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,079,132 (GRCm39)	D1477G	probably benign	Het
Alox12b	C	T	11: 69,054,039 (GRCm39)	T207I	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 5,046,128 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,418,074 (GRCm39)	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,833,072 (GRCm39)	V419G	probably benign	Het
B4galnt4	A	G	7: 140,644,257 (GRCm39)	T108A	probably damaging	Het
Cacna1s	G	A	1: 135,998,494 (GRCm39)	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,298 (GRCm39)	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,871,851 (GRCm39)	M307T	probably damaging	Het
Cobl	T	A	11: 12,203,124 (GRCm39)	I1193F	probably damaging	Het
Crb2	G	T	2: 37,683,332 (GRCm39)	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,307,424 (GRCm39)	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,629 (GRCm39)	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,735,785 (GRCm39)	S258G	probably benign	Het
Fbxo15	T	G	18: 84,982,359 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,785,724 (GRCm39)	Y387C	probably damaging	Het
Flt3l	G	A	7: 44,783,269 (GRCm39)	T176I	unknown	Het
Galk2	G	A	2: 125,825,172 (GRCm39)	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,051,716 (GRCm39)	L14P	unknown	Het
Gm5591	T	C	7: 38,220,094 (GRCm39)	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,430,638 (GRCm39)	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,556 (GRCm39)	D484E	probably damaging	Het
Heatr5b	G	T	17: 79,062,646 (GRCm39)	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,143,874 (GRCm39)	T72M	probably benign	Het
Kera	A	T	10: 97,444,884 (GRCm39)	N81I	probably damaging	Het
Klhl14	C	T	18: 21,784,900 (GRCm39)	V176I	probably benign	Het
Klrb1	A	T	6: 128,689,252 (GRCm39)	V73E	probably damaging	Het
Krtap31-2	T	C	11: 99,827,501 (GRCm39)	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,799,725 (GRCm39)	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,324,128 (GRCm39)	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847 (GRCm39)	T132P	probably damaging	Het
Neo1	A	G	9: 58,785,348 (GRCm39)	V1453A	probably benign	Het
Or5w13	T	C	2: 87,523,753 (GRCm39)	I158V	probably benign	Het
Or6c76	A	C	10: 129,612,091 (GRCm39)	I103L	probably benign	Het
Pcdha11	T	A	18: 37,139,319 (GRCm39)	L316*	probably null	Het
Pcdha7	T	C	18: 37,109,285 (GRCm39)	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,258,984 (GRCm39)	S253P	probably damaging	Het
Phtf1	T	C	3: 103,876,435 (GRCm39)	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,792,268 (GRCm39)	N508S	probably benign	Het
Pla1a	A	G	16: 38,235,208 (GRCm39)	I162T	possibly damaging	Het
Rb1	A	T	14: 73,502,048 (GRCm39)	L446M	probably damaging	Het
Retn	A	T	8: 3,706,079 (GRCm39)	S22C	probably damaging	Het
Snx25	A	G	8: 46,569,309 (GRCm39)	L196P	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,864,726 (GRCm39)	D625N	probably benign	Het
Sycp2	T	C	2: 177,988,126 (GRCm39)	*1501W	probably null	Het
Tarbp1	T	G	8: 127,160,639 (GRCm39)	T1271P	possibly damaging	Het
Uba1y	T	C	Y: 821,567 (GRCm39)	F154L	probably benign	Het
Ubr1	T	A	2: 120,705,925 (GRCm39)	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,524 (GRCm39)	Q132L	probably benign	Het
Vwf	A	T	6: 125,644,506 (GRCm39)	T2454S		Het
Wdr33	C	A	18: 32,029,823 (GRCm39)	F1007L	unknown	Het
Zfp398	A	G	6: 47,836,407 (GRCm39)	H201R	probably benign	Het

Other mutations in Hbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Hbp1	APN	12	31,980,674 (GRCm39)	unclassified	probably benign
Sliver	UTSW	12	31,987,246 (GRCm39)	missense	probably damaging	0.99
R4135:Hbp1	UTSW	12	31,984,421 (GRCm39)	missense	probably damaging	1.00
R4569:Hbp1	UTSW	12	32,000,231 (GRCm39)	unclassified	probably benign
R5324:Hbp1	UTSW	12	31,978,617 (GRCm39)	missense	probably damaging	1.00
R5910:Hbp1	UTSW	12	31,987,651 (GRCm39)	missense	probably benign	0.19
R5936:Hbp1	UTSW	12	31,987,095 (GRCm39)	splice site	probably null
R6062:Hbp1	UTSW	12	31,987,246 (GRCm39)	missense	probably damaging	0.99
R6439:Hbp1	UTSW	12	31,987,720 (GRCm39)	missense	probably damaging	1.00
R7017:Hbp1	UTSW	12	31,993,852 (GRCm39)	missense	probably damaging	1.00
R7213:Hbp1	UTSW	12	31,987,196 (GRCm39)	missense	probably benign	0.00
R7626:Hbp1	UTSW	12	31,993,899 (GRCm39)	missense	probably benign	0.45
R7731:Hbp1	UTSW	12	31,983,367 (GRCm39)	missense	possibly damaging	0.93
R8284:Hbp1	UTSW	12	31,987,625 (GRCm39)	missense	probably damaging	1.00
R8322:Hbp1	UTSW	12	31,983,387 (GRCm39)	missense	probably damaging	1.00
R8551:Hbp1	UTSW	12	31,980,709 (GRCm39)	missense	probably damaging	1.00
R9477:Hbp1	UTSW	12	31,980,766 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACCAGCTTGCTTGGCAGAG -3'
(R):5'- TGTGTCAGACCTAAGTAGACTTGTTC -3'

Sequencing Primer
(F):5'- GTTCCCACTGCTGGAATCACAG -3'
(R):5'- TCCAAGCTTGACTGTGGT -3'

Posted On

2019-10-17