Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Hbp1'

545395

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

045118-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31976449-32000529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31993852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 59 (S59P)

Ref Sequence

ENSEMBL: ENSMUSP00000135508 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000167458
AA Change: S59P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131983
Gene: ENSMUSG00000002996
AA Change: S59P

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: S59P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131158
Gene: ENSMUSG00000002996
AA Change: S59P

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: S63P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135080
Gene: ENSMUSG00000002996
AA Change: S63P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176084
AA Change: S49P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135489
Gene: ENSMUSG00000002996
AA Change: S49P

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 damaging
Transcript: ENSMUST00000176103
AA Change: S59P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135508
Gene: ENSMUSG00000002996
AA Change: S59P

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 damaging
Transcript: ENSMUST00000176520
AA Change: S49P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135155
Gene: ENSMUSG00000002996
AA Change: S49P

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: ENSMUST00000176643

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,926 (GRCm39)		probably benign	Het
Acot3	A	T	12: 84,100,077 (GRCm39)		probably benign	Het
Add3	T	A	19: 53,222,284 (GRCm39)	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,618,097 (GRCm39)		probably null	Het
Cacna1i	T	C	15: 80,264,671 (GRCm39)	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,023,596 (GRCm39)	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934 (GRCm39)	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,273,368 (GRCm39)	Y112*	probably null	Het
Cracd	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 77,004,795 (GRCm39)		probably benign	Het
Cyp2d40	A	T	15: 82,644,234 (GRCm39)	F297Y	unknown	Het
Ddx4	C	T	13: 112,738,022 (GRCm39)	V546I	probably damaging	Het
Dgkg	T	C	16: 22,391,463 (GRCm39)	M332V	probably benign	Het
Dnah12	T	C	14: 26,456,835 (GRCm39)	I867T	probably benign	Het
Dnah2	T	A	11: 69,382,373 (GRCm39)	K1246*	probably null	Het
Drd2	G	A	9: 49,312,129 (GRCm39)	V161I	probably benign	Het
Dsp	A	G	13: 38,370,683 (GRCm39)	D862G	probably benign	Het
Ephx4	T	C	5: 107,553,980 (GRCm39)	F10S	probably damaging	Het
Fabp9	C	A	3: 10,259,756 (GRCm39)	A76S	possibly damaging	Het
Fat4	G	A	3: 38,945,692 (GRCm39)	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,529,616 (GRCm39)	S84P	unknown	Het
Fbxo40	T	C	16: 36,790,732 (GRCm39)	D126G	probably damaging	Het
Fpr1	C	T	17: 18,097,654 (GRCm39)	V112I	probably benign	Het
Frem2	T	C	3: 53,427,023 (GRCm39)	N2975S	probably benign	Het
Gask1a	T	C	9: 121,795,052 (GRCm39)		probably null	Het
Gm7945	T	C	14: 41,105,610 (GRCm39)	Y156C		Het
Gnpat	T	C	8: 125,590,014 (GRCm39)	V13A	probably benign	Het
Gpx5	G	A	13: 21,475,561 (GRCm39)	P55L	probably damaging	Het
Ighv1-36	T	A	12: 114,843,533 (GRCm39)	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,392,863 (GRCm39)	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,544,711 (GRCm39)	I484L	possibly damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,171,644 (GRCm39)	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,911,707 (GRCm39)	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,091,780 (GRCm39)	E520K	probably benign	Het
Lrrc34	C	T	3: 30,699,465 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,983,745 (GRCm39)	T163A	probably benign	Het
Met	T	A	6: 17,491,286 (GRCm39)	L16*	probably null	Het
Mpzl2	G	T	9: 44,958,587 (GRCm39)	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,202,585 (GRCm39)	I47F	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mybphl	T	A	3: 108,282,154 (GRCm39)	V128E	probably damaging	Het
Nckap5	A	T	1: 126,030,398 (GRCm39)	D231E	probably damaging	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Orm1	T	A	4: 63,263,448 (GRCm39)	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,214,076 (GRCm39)	P954S	probably benign	Het
Pdzd8	G	T	19: 59,333,784 (GRCm39)	S79*	probably null	Het
Pdzd9	T	A	7: 120,262,225 (GRCm39)	H79L	probably benign	Het
Plcg1	A	T	2: 160,600,017 (GRCm39)	I926F	probably damaging	Het
Plec	A	T	15: 76,057,741 (GRCm39)	F4078L	probably damaging	Het
Plek	G	A	11: 17,002,220 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,761,335 (GRCm39)	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,008,224 (GRCm39)	D215E	probably benign	Het
Psg22	C	A	7: 18,458,366 (GRCm39)	S352R	probably benign	Het
Ptchd4	A	G	17: 42,813,626 (GRCm39)	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,290,257 (GRCm39)	N389K	probably benign	Het
Rdh1	A	G	10: 127,598,906 (GRCm39)	D129G	probably benign	Het
Rimbp3	A	G	16: 17,027,610 (GRCm39)	T345A	probably benign	Het
S100a14	T	C	3: 90,434,602 (GRCm39)		probably null	Het
Scamp1	T	A	13: 94,361,423 (GRCm39)	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Srf	T	C	17: 46,861,830 (GRCm39)	T383A	probably benign	Het
St6galnac5	T	C	3: 152,552,040 (GRCm39)	M176V	probably damaging	Het
St8sia1	C	A	6: 142,813,632 (GRCm39)	V177F	probably damaging	Het
Syt12	C	T	19: 4,510,895 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,813,934 (GRCm39)	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,824,513 (GRCm39)	I137V	probably benign	Het
Tenm2	T	A	11: 36,062,236 (GRCm39)	Y543F	probably damaging	Het
Tent5b	T	C	4: 133,213,545 (GRCm39)	S139P	possibly damaging	Het
Tgfbr1	T	C	4: 47,410,728 (GRCm39)	I488T	probably damaging	Het
Tgm1	T	A	14: 55,942,398 (GRCm39)	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,131,722 (GRCm39)	D698V	probably damaging	Het
Tpra1	T	A	6: 88,885,294 (GRCm39)	I82N	probably damaging	Het
Ubr4	T	A	4: 139,120,401 (GRCm39)	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124 (GRCm39)	Y787C	probably damaging	Het
Znfx1	T	C	2: 166,890,454 (GRCm39)	S677G	probably damaging	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
R7213:Hbp1	UTSW	12	31,987,196 (GRCm39)	missense	probably benign	0.00
R7519:Hbp1	UTSW	12	31,983,374 (GRCm39)	missense	probably damaging	1.00
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'- TGTGTGCACATGCTACACCTG -3'
(R):5'- GTCACATGACACTGCCTTTC -3'

Sequencing Primer
(F):5'- ATGCTACACCTGCACCTGC -3'
(R):5'- CTTTCATTTCTAGTCGGAGCAC -3'

Posted On

2019-05-13