Mutagenetix > Incidental Mutations

Incidental Mutation 'R2884:Habp4'

260985

Institutional Source

Beutler Lab

Gene Symbol

Habp4

Ensembl Gene

ENSMUSG00000021476

Gene Name

hyaluronic acid binding protein 4

Synonyms

MMRRC Submission

040472-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R2884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64161824-64186537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64182266 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 328 (R328S)

Ref Sequence

ENSEMBL: ENSMUSP00000152612 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021929
AA Change: R328S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021929
Gene: ENSMUSG00000021476
AA Change: R328S

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 benign
Transcript: ENSMUST00000221904
AA Change: R328S

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223377

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,145,511	E59D	possibly damaging	Het
Arhgap27	T	C	11: 103,360,843		probably null	Het
BC061237	A	G	14: 44,501,170	R9G	possibly damaging	Het
BC067074	A	T	13: 113,320,682	Q1087H	probably damaging	Het
BC067074	G	T	13: 113,369,191	A2285S	probably benign	Het
Brsk1	A	G	7: 4,691,123		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dnajb5	A	T	4: 42,957,355	D284V	probably damaging	Het
Dnmt3a	A	G	12: 3,896,132	D329G	probably damaging	Het
Ecd	C	T	14: 20,320,773	G626D	probably damaging	Het
Exoc3l4	A	G	12: 111,428,522	D551G	possibly damaging	Het
Fam227b	A	T	2: 126,100,926	I317N	probably benign	Het
Fam3c	G	A	6: 22,329,582	R49C	probably damaging	Het
Fcrl5	A	G	3: 87,457,391	Y566C	probably damaging	Het
Fras1	A	G	5: 96,700,268	N1779S	probably benign	Het
Gm19965	T	A	1: 116,821,583	N331K	probably benign	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
H2-DMa	A	G	17: 34,137,147	N41S	probably damaging	Het
Hexb	C	T	13: 97,183,700	G272D	probably damaging	Het
Hist1h2ae	A	G	13: 23,570,873	I79T	probably damaging	Het
Lilrb4a	A	T	10: 51,491,613	N84Y	probably benign	Het
Mtnr1a	A	G	8: 45,087,268	T89A	probably benign	Het
Myh13	T	A	11: 67,337,643	N336K	probably benign	Het
Naca	T	C	10: 128,041,678		probably benign	Het
Naif1	C	T	2: 32,454,875	P197L	probably benign	Het
Nprl3	A	G	11: 32,248,163	L179P	probably damaging	Het
Nup93	A	G	8: 94,303,638	Y375C	probably damaging	Het
Olfr547	A	G	7: 102,535,232	I162V	probably benign	Het
Pcdha12	G	A	18: 37,020,704	D159N	probably damaging	Het
Plekhs1	G	A	19: 56,470,826	G39R	probably benign	Het
Ppp4r3a	T	C	12: 101,068,677	E53G	probably damaging	Het
Prss48	A	T	3: 85,997,255	M212K	probably benign	Het
Pth	A	T	7: 113,386,028	L46Q	probably damaging	Het
Rin2	A	T	2: 145,860,991	T536S	probably benign	Het
Setx	T	G	2: 29,148,625	C1707W	probably damaging	Het
Stau2	A	T	1: 16,231,066	F519Y	possibly damaging	Het
Syne2	T	G	12: 75,963,759	V2481G	probably benign	Het
Tpte	C	T	8: 22,335,423	Q331*	probably null	Het
Ttn	G	T	2: 76,900,252		probably benign	Het
Utrn	A	T	10: 12,739,361		probably null	Het
Vmn2r82	A	G	10: 79,396,248	I694V	probably benign	Het
Vmn2r88	G	A	14: 51,413,934	C235Y	probably damaging	Het
Xrn2	T	A	2: 147,047,656	V653E	probably damaging	Het
Znrf3	A	T	11: 5,289,693	D58E	probably damaging	Het

Other mutations in Habp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Habp4	APN	13	64174071	missense	probably damaging	1.00
IGL02367:Habp4	APN	13	64174091	missense	probably damaging	1.00
R1976:Habp4	UTSW	13	64184606	missense	probably benign	0.09
R2012:Habp4	UTSW	13	64170181	splice site	probably null
R3800:Habp4	UTSW	13	64174103	missense	probably damaging	1.00
R6404:Habp4	UTSW	13	64182186	missense	possibly damaging	0.55
R7029:Habp4	UTSW	13	64162125	missense	probably benign	0.08
R7985:Habp4	UTSW	13	64176046	missense	probably benign	0.05
R8025:Habp4	UTSW	13	64174831	missense	probably benign	0.08
R8046:Habp4	UTSW	13	64174842	missense	probably benign	0.11
R8138:Habp4	UTSW	13	64176070	missense	possibly damaging	0.72
R8314:Habp4	UTSW	13	64184751	missense	probably damaging	1.00
RF038:Habp4	UTSW	13	64162162	small deletion	probably benign
Z1177:Habp4	UTSW	13	64174068	missense	probably benign	0.00
Z1177:Habp4	UTSW	13	64174070	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTTCTGAAGTAGACATTTGGTCC -3'
(R):5'- AACCACAGGTTTGACATGTACTC -3'

Sequencing Primer
(F):5'- TCCTGAGTTGGAGGTAGAAG -3'
(R):5'- GGTTTGACATGTACTCCTCAAATAC -3'

Posted On

2015-01-23