Mutagenetix > Incidental Mutations

Incidental Mutation 'R6062:Hbp1'

483861

Institutional Source

Beutler Lab

Gene Symbol

Hbp1

Ensembl Gene

ENSMUSG00000002996

Gene Name

high mobility group box transcription factor 1

Synonyms

1700058O05Rik, C86454, C330012F01Rik

MMRRC Submission

044227-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31926254-31950535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31937247 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 192 (M192K)

Ref Sequence

ENSEMBL: ENSMUSP00000135155 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000167458
AA Change: M202K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131983
Gene: ENSMUSG00000002996
AA Change: M202K

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 benign
Transcript: ENSMUST00000172314
AA Change: M202K

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131158
Gene: ENSMUSG00000002996
AA Change: M202K

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

noncoding transcript
Transcript: ENSMUST00000175666

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175686
AA Change: M206K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135080
Gene: ENSMUSG00000002996
AA Change: M206K

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: M192K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135489
Gene: ENSMUSG00000002996
AA Change: M192K

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

possibly damaging
Transcript: ENSMUST00000176103
AA Change: M202K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135508
Gene: ENSMUSG00000002996
AA Change: M202K

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

noncoding transcript
Transcript: ENSMUST00000176138

Predicted Effect

probably damaging
Transcript: ENSMUST00000176520
AA Change: M192K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135155
Gene: ENSMUSG00000002996
AA Change: M192K

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

Meta Mutation Damage Score

0.0968

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

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
AI314180	G	T	4: 58,826,453	S1038Y	possibly damaging	Het
Atat1	T	A	17: 35,908,564	Q136L	probably damaging	Het
Atm	A	G	9: 53,488,587	L1531P	probably damaging	Het
Brca2	G	A	5: 150,556,889	R2708H	probably damaging	Het
Cand1	G	A	10: 119,218,010	A141V	possibly damaging	Het
Cdcp2	T	C	4: 107,102,492	S35P	probably damaging	Het
Ces4a	G	A	8: 105,138,174		probably null	Het
Colec10	T	A	15: 54,459,807	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,406,189	D90E	probably damaging	Het
Csmd1	T	C	8: 16,092,305	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 95,457,469	V154A	possibly damaging	Het
Daglb	T	C	5: 143,494,603	I454T	probably benign	Het
Dtna	C	A	18: 23,622,056	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,293,380		probably benign	Het
Eefsec	A	T	6: 88,355,629	S200T	probably benign	Het
Enthd1	T	A	15: 80,452,715	D506V	probably damaging	Het
Erbb2	A	G	11: 98,433,249	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,780,713	C183R	probably damaging	Het
Ginm1	T	A	10: 7,775,333	H103L	probably benign	Het
Golgb1	C	A	16: 36,914,671	Q1427K	possibly damaging	Het
Grb14	G	T	2: 65,022,620	Q9K	possibly damaging	Het
Herpud2	A	T	9: 25,108,988	D357E	probably damaging	Het
Idi1	A	G	13: 8,887,505	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,498,541	V176A	probably benign	Het
Matn1	T	A	4: 130,951,966	D310E	probably benign	Het
Mbtps1	A	T	8: 119,531,091	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,759,308	D2417G	unknown	Het
Myo7b	T	C	18: 31,967,990	T1551A	possibly damaging	Het
Neb	A	G	2: 52,185,281	M224T	probably benign	Het
Ola1	A	T	2: 73,199,498	D92E	probably damaging	Het
Olfr1019	T	G	2: 85,841,114	I226L	probably benign	Het
Olfr388-ps1	A	C	11: 73,724,560	C155G	unknown	Het
Olfr723	A	T	14: 49,928,662	M294K	probably damaging	Het
Olfr912	T	A	9: 38,539,144	M83K	probably damaging	Het
Otud4	T	C	8: 79,673,896	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,524,751	A165T	probably benign	Het
Prelid2	T	C	18: 41,912,465	I127V	probably benign	Het
Rab35	A	G	5: 115,640,088	I38V	probably damaging	Het
Rab3d	T	C	9: 21,910,519	T209A	probably benign	Het
Rapgef1	A	G	2: 29,700,732	E321G	probably damaging	Het
Rem1	T	C	2: 152,628,097	M1T	probably null	Het
Rgsl1	T	C	1: 153,799,872	K181R	possibly damaging	Het
Scel	C	A	14: 103,585,136	N395K	possibly damaging	Het
Sept9	A	G	11: 117,290,800	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,764,905	M191R	probably benign	Het
Slc22a19	T	C	19: 7,674,282	N520S	probably damaging	Het
Slc28a1	C	T	7: 81,115,563	R9*	probably null	Het
Slc2a7	T	C	4: 150,168,427	V508A	probably benign	Het
Slc8a3	G	A	12: 81,314,350	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,343,406	I455L	possibly damaging	Het
Tmem267	T	C	13: 119,609,231	S141P	probably damaging	Het
Tnn	T	A	1: 160,098,278	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,976,259	I30T	possibly damaging	Het
Zfp382	T	C	7: 30,133,590	L222P	probably damaging	Het
Zfp950	T	A	19: 61,120,425	K73N	possibly damaging	Het

Other mutations in Hbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Hbp1	APN	12	31930675	unclassified	probably benign
Sliver	UTSW	12	31937247	missense	probably damaging	0.99
R4135:Hbp1	UTSW	12	31934422	missense	probably damaging	1.00
R4569:Hbp1	UTSW	12	31950232	unclassified	probably benign
R5324:Hbp1	UTSW	12	31928618	missense	probably damaging	1.00
R5910:Hbp1	UTSW	12	31937652	missense	probably benign	0.19
R5936:Hbp1	UTSW	12	31937096	splice site	probably null
R6439:Hbp1	UTSW	12	31937721	missense	probably damaging	1.00
R7017:Hbp1	UTSW	12	31943853	missense	probably damaging	1.00
R7213:Hbp1	UTSW	12	31937197	missense	probably benign	0.00
R7519:Hbp1	UTSW	12	31933375	missense	probably damaging	1.00
R7626:Hbp1	UTSW	12	31943900	missense	probably benign	0.45
R7731:Hbp1	UTSW	12	31933368	missense	possibly damaging	0.93
R8284:Hbp1	UTSW	12	31937626	missense	probably damaging	1.00
R8322:Hbp1	UTSW	12	31933388	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGTGCCTGAAGTTGAATTAG -3'
(R):5'- AACATTACCTTTCCCCAATCTGAG -3'

Sequencing Primer
(F):5'- TGCCTGAAGTTGAATTAGAAAGAAG -3'
(R):5'- GTTTTGAAGAACATACAGATGCAC -3'

Posted On

2017-07-14