Mutagenetix > Incidental Mutation

Incidental Mutation 'R6404:Habp4'

518907

Institutional Source

Beutler Lab

Gene Symbol

Habp4

Ensembl Gene

ENSMUSG00000021476

Gene Name

hyaluronic acid binding protein 4

Synonyms

4933428J01Rik, 4933413D03Rik

MMRRC Submission

044549-MU

Accession Numbers

Essential gene?

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

Stock #

R6404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64309680-64334351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64330000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 302 (T302A)

Ref Sequence

ENSEMBL: ENSMUSP00000021929 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021929
AA Change: T302A

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021929
Gene: ENSMUSG00000021476
AA Change: T302A

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

possibly damaging
Transcript: ENSMUST00000221904
AA Change: T302A

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223377

Meta Mutation Damage Score

0.0728

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,484,892 (GRCm39)	D1540G	probably benign	Het
Adamts7	A	T	9: 90,062,509 (GRCm39)		probably null	Het
Apol10a	C	A	15: 77,373,241 (GRCm39)	F292L	probably benign	Het
Atp13a4	A	T	16: 29,290,719 (GRCm39)	Y243*	probably null	Het
Cc2d2a	A	G	5: 43,861,416 (GRCm39)	N660D	possibly damaging	Het
Ccdc57	T	C	11: 120,785,538 (GRCm39)	T466A	probably benign	Het
Ccdc74a	A	T	16: 17,467,889 (GRCm39)	N249Y	possibly damaging	Het
Cd3e	T	A	9: 44,912,426 (GRCm39)	E106V	probably damaging	Het
Col4a1	G	T	8: 11,257,409 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,415,743 (GRCm39)	Y2691H	possibly damaging	Het
Dmxl2	T	C	9: 54,282,820 (GRCm39)	R2786G	probably damaging	Het
Dpyd	A	G	3: 119,059,606 (GRCm39)	T768A	probably benign	Het
Endou	T	A	15: 97,610,012 (GRCm39)	Q428L	probably damaging	Het
Fam13c	T	C	10: 70,284,646 (GRCm39)		probably null	Het
Fhip1b	G	A	7: 105,034,198 (GRCm39)	R478*	probably null	Het
Frmd5	G	A	2: 121,379,699 (GRCm39)	R70*	probably null	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm4131	T	A	14: 62,718,598 (GRCm39)	R3*	probably null	Het
Ift81	A	T	5: 122,749,069 (GRCm39)	D27E	probably damaging	Het
Iqcf3	T	C	9: 106,430,083 (GRCm39)	I107V	probably benign	Het
Iqgap2	A	G	13: 95,865,985 (GRCm39)	I298T	probably benign	Het
Lilrb4b	A	G	10: 51,361,825 (GRCm39)	D199G	probably damaging	Het
Lsm8	C	T	6: 18,848,739 (GRCm39)	S3F	possibly damaging	Het
Meox1	T	C	11: 101,769,482 (GRCm39)	E238G	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	C	2: 52,097,737 (GRCm39)	Y901C	probably damaging	Het
Nfat5	A	G	8: 108,097,220 (GRCm39)	M121V	probably benign	Het
Notch2	G	A	3: 97,989,314 (GRCm39)	G278D	probably damaging	Het
Or4c121	T	C	2: 89,023,906 (GRCm39)	I157M	probably damaging	Het
Pbld2	T	A	10: 62,890,107 (GRCm39)	S172T	probably damaging	Het
Pla2g7	T	A	17: 43,905,688 (GRCm39)	Y83N	probably damaging	Het
Plxnb1	A	T	9: 108,945,705 (GRCm39)	I2079F	probably damaging	Het
Rara	T	C	11: 98,851,839 (GRCm39)	F17L	probably benign	Het
Skint5	G	A	4: 113,799,806 (GRCm39)	T121I	probably damaging	Het
Slco6c1	T	C	1: 97,046,330 (GRCm39)	Y251C	probably damaging	Het
Slmap	T	A	14: 26,143,566 (GRCm39)		probably null	Het
Uba2	A	T	7: 33,853,985 (GRCm39)	L319Q	probably damaging	Het
Vmn2r96	A	T	17: 18,817,793 (GRCm39)	I457F	probably damaging	Het
Zfp57	A	T	17: 37,320,716 (GRCm39)	H190L	probably damaging	Het
Zfp738	A	G	13: 67,819,179 (GRCm39)	S271P	possibly damaging	Het
Zp2	A	T	7: 119,734,765 (GRCm39)	H474Q	possibly damaging	Het

Other mutations in Habp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Habp4	APN	13	64,321,885 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTGGGGTCACCTTTAAC -3'
(R):5'- AATAGCAAGGTCCTATTTCCACACC -3'

Sequencing Primer
(F):5'- GGGGTCACCTTTAACCTTATTTAC -3'
(R):5'- CCCACTGAGACTGGGCTATTATG -3'

Posted On

2018-05-24