Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00924:Habp4'

28853

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Habp4

Ensembl Gene

ENSMUSG00000021476

Gene Name

hyaluronic acid binding protein 4

Synonyms

4933428J01Rik, 4933413D03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

IGL00924

Quality Score

Status

Chromosome

Chromosomal Location

64309680-64334351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64321885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 174 (D174G)

Ref Sequence

ENSEMBL: ENSMUSP00000152612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021929] [ENSMUST00000221904]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021929
AA Change: D174G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021929
Gene: ENSMUSG00000021476
AA Change: D174G

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:IHABP4_N	16	163	2.3e-52	PFAM
low complexity region	174	201	N/A	INTRINSIC
HABP4_PAI-RBP1	212	316	5.03e-34	SMART
low complexity region	365	383	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000221904
AA Change: D174G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223328

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,255,021 (GRCm39)	V112A	probably benign	Het
Atp1a4	T	A	1: 172,074,339 (GRCm39)	I305F	probably damaging	Het
AW209491	A	G	13: 14,811,660 (GRCm39)	N171S	probably damaging	Het
Bank1	G	T	3: 135,953,395 (GRCm39)	A120E	probably damaging	Het
Bdp1	T	A	13: 100,234,087 (GRCm39)	E206D	possibly damaging	Het
Brd1	T	C	15: 88,613,612 (GRCm39)	K428E	possibly damaging	Het
Ccdc42	A	G	11: 68,485,447 (GRCm39)	I191V	probably benign	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Cpm	T	G	10: 117,511,971 (GRCm39)	I305S	probably damaging	Het
Cracd	A	G	5: 77,006,833 (GRCm39)	T1065A	unknown	Het
Dlc1	A	T	8: 37,405,368 (GRCm39)	S140R	probably benign	Het
Dnajc14	A	G	10: 128,653,188 (GRCm39)	T674A	probably benign	Het
Dnajc7	A	G	11: 100,475,111 (GRCm39)	I437T	possibly damaging	Het
Entpd5	A	T	12: 84,433,828 (GRCm39)	V147E	probably damaging	Het
Gpr139	A	G	7: 118,783,510 (GRCm39)	C30R	probably benign	Het
Has3	T	C	8: 107,605,231 (GRCm39)	F479S	probably benign	Het
Helb	T	A	10: 119,946,889 (GRCm39)	K141N	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kdm1b	G	A	13: 47,221,956 (GRCm39)	R465H	probably benign	Het
Lrrc57	A	T	2: 120,436,532 (GRCm39)	M86K	possibly damaging	Het
Map7d1	A	G	4: 126,132,398 (GRCm39)	V258A	probably damaging	Het
Mtcl2	T	G	2: 156,882,625 (GRCm39)	M476L	probably damaging	Het
Mybbp1a	T	A	11: 72,334,393 (GRCm39)	F216Y	probably damaging	Het
Ncan	T	A	8: 70,561,039 (GRCm39)	M643L	possibly damaging	Het
Ngdn	T	C	14: 55,260,626 (GRCm39)	I278T	probably damaging	Het
Or4c104	T	C	2: 88,586,500 (GRCm39)	D173G	possibly damaging	Het
Or9a4	C	T	6: 40,548,388 (GRCm39)	R23C	probably benign	Het
P4hb	G	T	11: 120,454,644 (GRCm39)	Q245K	probably benign	Het
Pcx	G	A	19: 4,670,965 (GRCm39)	V1089I	probably benign	Het
Phc3	A	T	3: 30,990,624 (GRCm39)	M498K	probably damaging	Het
Pkd1	T	A	17: 24,790,601 (GRCm39)	L1025*	probably null	Het
Sdhaf2	G	A	19: 10,494,380 (GRCm39)	P110S	probably damaging	Het
Slc22a20	T	C	19: 6,020,544 (GRCm39)	K538E	probably benign	Het
Spag11b	T	A	8: 19,192,656 (GRCm39)	V78D	probably damaging	Het
Tgm3	T	C	2: 129,880,294 (GRCm39)	C367R	probably damaging	Het
Unc5a	G	A	13: 55,152,327 (GRCm39)	E741K	probably damaging	Het
Vmn2r58	A	T	7: 41,486,891 (GRCm39)	L668H	probably damaging	Het
Wdr62	G	A	7: 29,964,643 (GRCm39)	T367I	probably damaging	Het
Wdr62	G	A	7: 29,942,231 (GRCm39)	P603S	probably damaging	Het
Xab2	G	A	8: 3,661,723 (GRCm39)	R577W	probably damaging	Het

Other mutations in Habp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02367:Habp4	APN	13	64,321,905 (GRCm39)	missense	probably damaging	1.00
R1976:Habp4	UTSW	13	64,332,420 (GRCm39)	missense	probably benign	0.09
R2012:Habp4	UTSW	13	64,317,995 (GRCm39)	splice site	probably null
R2884:Habp4	UTSW	13	64,330,080 (GRCm39)	missense	probably benign	0.40
R3800:Habp4	UTSW	13	64,321,917 (GRCm39)	missense	probably damaging	1.00
R6404:Habp4	UTSW	13	64,330,000 (GRCm39)	missense	possibly damaging	0.55
R7029:Habp4	UTSW	13	64,309,939 (GRCm39)	missense	probably benign	0.08
R7985:Habp4	UTSW	13	64,323,860 (GRCm39)	missense	probably benign	0.05
R8025:Habp4	UTSW	13	64,322,645 (GRCm39)	missense	probably benign	0.08
R8046:Habp4	UTSW	13	64,322,656 (GRCm39)	missense	probably benign	0.11
R8138:Habp4	UTSW	13	64,323,884 (GRCm39)	missense	possibly damaging	0.72
R8314:Habp4	UTSW	13	64,332,565 (GRCm39)	missense	probably damaging	1.00
R9571:Habp4	UTSW	13	64,322,615 (GRCm39)	missense	probably benign	0.02
RF038:Habp4	UTSW	13	64,309,976 (GRCm39)	small deletion	probably benign
Z1177:Habp4	UTSW	13	64,321,884 (GRCm39)	missense	probably damaging	1.00
Z1177:Habp4	UTSW	13	64,321,882 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17