Mutagenetix > Incidental Mutation

Incidental Mutation 'R8138:Habp4'

632371

Institutional Source

Beutler Lab

Gene Symbol

Habp4

Ensembl Gene

ENSMUSG00000021476

Gene Name

hyaluronic acid binding protein 4

Synonyms

4933428J01Rik, 4933413D03Rik

MMRRC Submission

067566-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R8138 (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 64323884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 269 (D269G)

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: D269G

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021929
Gene: ENSMUSG00000021476
AA Change: D269G

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: D269G

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.5%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,418,829 (GRCm39)	D141G	probably benign	Het
Abcc1	A	G	16: 14,290,751 (GRCm39)	T1454A	probably damaging	Het
Acan	C	A	7: 78,748,175 (GRCm39)	T982N	probably benign	Het
Adam5	A	G	8: 25,271,778 (GRCm39)	L543P	probably damaging	Het
Akap13	T	A	7: 75,351,979 (GRCm39)		probably null	Het
Akirin1	G	A	4: 123,637,238 (GRCm39)	P116S	probably benign	Het
Bzw2	T	C	12: 36,159,819 (GRCm39)	D236G	probably benign	Het
C1qtnf2	G	A	11: 43,376,838 (GRCm39)	G70D	probably damaging	Het
Cd44	A	G	2: 102,662,842 (GRCm39)	I566T	probably benign	Het
Cltb	C	T	13: 54,746,596 (GRCm39)	D135N	possibly damaging	Het
Cpeb2	T	C	5: 43,392,352 (GRCm39)	V516A		Het
Cx3cr1	A	T	9: 119,880,649 (GRCm39)	M251K	possibly damaging	Het
Ect2l	A	T	10: 18,045,153 (GRCm39)	S301T	probably damaging	Het
Fgd6	A	G	10: 93,970,005 (GRCm39)	K1218R	probably null	Het
Fsip2	T	C	2: 82,806,141 (GRCm39)	V820A	possibly damaging	Het
Gnas	A	G	2: 174,140,179 (GRCm39)	E116G	probably benign	Het
Greb1l	T	C	18: 10,533,060 (GRCm39)	Y985H	probably benign	Het
Gtpbp3	T	C	8: 71,945,242 (GRCm39)	L438P	probably damaging	Het
Igf2r	A	T	17: 12,920,125 (GRCm39)	S1405T	probably benign	Het
Il17rc	A	G	6: 113,459,500 (GRCm39)	D482G	probably damaging	Het
Kmt2d	A	G	15: 98,741,534 (GRCm39)	I4542T	unknown	Het
Lag3	A	G	6: 124,882,455 (GRCm39)	V347A	probably damaging	Het
Lmtk2	C	T	5: 144,112,415 (GRCm39)	S1045L	probably damaging	Het
Mblac2	A	G	13: 81,859,769 (GRCm39)	D41G	probably damaging	Het
Mfsd6	C	T	1: 52,748,671 (GRCm39)	V65I	probably benign	Het
Neb	A	G	2: 52,065,707 (GRCm39)	V6175A	possibly damaging	Het
Nin	A	G	12: 70,089,672 (GRCm39)	S1248P		Het
Nlrp4b	A	T	7: 10,449,458 (GRCm39)	M554L	probably benign	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or5an11	G	A	19: 12,246,436 (GRCm39)	V281M	possibly damaging	Het
Or5p59	A	T	7: 107,702,764 (GRCm39)	S83C	possibly damaging	Het
Or8k53	T	C	2: 86,177,930 (GRCm39)	Y60C	possibly damaging	Het
Pik3r4	C	A	9: 105,546,234 (GRCm39)	S861R	possibly damaging	Het
Ppp1r16a	T	C	15: 76,575,921 (GRCm39)	V95A	probably damaging	Het
Prss40	T	C	1: 34,597,080 (GRCm39)	Q156R	probably damaging	Het
Rhbdd3	CACCATGGCTGCTACCATGGCTGCT	CACCATGGCTGCT	11: 5,054,303 (GRCm39)		probably benign	Het
Rnf170	T	C	8: 26,616,009 (GRCm39)		probably null	Het
Smlr1	A	G	10: 25,411,939 (GRCm39)	V16A	probably benign	Het
Sowahb	A	G	5: 93,191,342 (GRCm39)	L459P	probably benign	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Tpo	T	C	12: 30,124,103 (GRCm39)	D899G	probably benign	Het
Traj7	C	T	14: 54,448,982 (GRCm39)	P19S		Het
Trit1	G	A	4: 122,937,582 (GRCm39)	W131*	probably null	Het
Vcpip1	GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC	GGGAGGAGGCGGCGGCGGC	1: 9,818,334 (GRCm39)		probably benign	Het
Vmn1r4	A	G	6: 56,934,391 (GRCm39)	*298W	probably null	Het
Vmn2r124	T	A	17: 18,283,610 (GRCm39)	W435R	probably damaging	Het
Zbtb41	C	T	1: 139,369,545 (GRCm39)	R641C	probably damaging	Het
Zfp84	T	A	7: 29,474,797 (GRCm39)	F23Y	probably damaging	Het
Zfp879	G	T	11: 50,724,275 (GRCm39)	Y260*	probably null	Het
Zswim9	A	T	7: 12,995,337 (GRCm39)	F273Y	probably 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
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
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'- AAGCATTTGGATTCTCTGCCTC -3'
(R):5'- ATCTGGTATCCTGCTCTGGC -3'

Sequencing Primer
(F):5'- AACATATTTTTAGGCATCCCTGACTC -3'
(R):5'- TGGCCTCCACATTCACAC -3'

Posted On

2020-06-30