Mutagenetix > Incidental Mutation

Incidental Mutation 'R3800:Habp4'

272941

Institutional Source

Beutler Lab

Gene Symbol

Habp4

Ensembl Gene

ENSMUSG00000021476

Gene Name

hyaluronic acid binding protein 4

Synonyms

4933428J01Rik, 4933413D03Rik

MMRRC Submission

040759-MU

Accession Numbers

Essential gene?

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

Stock #

R3800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64309680-64334351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64321917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 185 (R185C)

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: R185C

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

SMART Domains

Protein: ENSMUSP00000021929
Gene: ENSMUSG00000021476
AA Change: R185C

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: R185C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223328

Meta Mutation Damage Score

0.1061

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,385,025 (GRCm39)	D313E	possibly damaging	Het
Abca12	C	T	1: 71,305,046 (GRCm39)	V2070I	probably damaging	Het
Adam23	C	T	1: 63,590,933 (GRCm39)	R467*	probably null	Het
Adgrf5	T	C	17: 43,757,951 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,877,889 (GRCm39)		probably null	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap28	T	C	17: 68,180,031 (GRCm39)	D268G	probably damaging	Het
Btbd9	T	C	17: 30,732,633 (GRCm39)	I351V	possibly damaging	Het
Cacna1b	C	T	2: 24,548,971 (GRCm39)	R1138Q	probably benign	Het
Caskin1	T	G	17: 24,720,246 (GRCm39)	V456G	probably benign	Het
Ccdc96	A	G	5: 36,643,611 (GRCm39)	D539G	probably damaging	Het
Cep290	T	C	10: 100,408,803 (GRCm39)	I2425T	probably damaging	Het
Cfap251	T	C	5: 123,392,784 (GRCm39)		probably benign	Het
Col18a1	C	A	10: 76,903,221 (GRCm39)	G998*	probably null	Het
Cpe	A	G	8: 65,070,651 (GRCm39)	V198A	probably benign	Het
Cux1	A	G	5: 136,344,887 (GRCm39)	M364T	probably damaging	Het
Dock8	T	A	19: 25,141,716 (GRCm39)	N1396K	probably benign	Het
Dync2h1	A	C	9: 7,101,525 (GRCm39)	F482V	possibly damaging	Het
Eif1ad19	T	C	12: 87,740,491 (GRCm39)	K23E	possibly damaging	Het
Fat4	T	A	3: 39,035,423 (GRCm39)	V3025E	possibly damaging	Het
Fbn1	T	A	2: 125,187,894 (GRCm39)	D1545V	possibly damaging	Het
Fbxw16	T	G	9: 109,265,665 (GRCm39)	I385L	probably damaging	Het
Fnbp1	T	C	2: 30,923,143 (GRCm39)	E341G	probably damaging	Het
Gm9845	T	C	3: 39,412,642 (GRCm39)		noncoding transcript	Het
Gmps	T	C	3: 63,889,866 (GRCm39)	Y82H	possibly damaging	Het
Ift122	T	A	6: 115,902,867 (GRCm39)	S1209T	probably benign	Het
Ino80c	T	C	18: 24,254,752 (GRCm39)	Y36C	probably damaging	Het
Inpp5b	C	T	4: 124,679,138 (GRCm39)	T515I	probably damaging	Het
Kcnj6	G	A	16: 94,633,886 (GRCm39)	T75M	probably damaging	Het
Map2k4	A	T	11: 65,581,607 (GRCm39)	Y368*	probably null	Het
Mbd6	A	G	10: 127,121,036 (GRCm39)		probably benign	Het
Mccc1	G	A	3: 36,054,658 (GRCm39)	R17W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncoa3	T	C	2: 165,901,639 (GRCm39)	M1004T	possibly damaging	Het
Npnt	C	A	3: 132,612,524 (GRCm39)	G87V	probably damaging	Het
Or10a4	C	T	7: 106,696,938 (GRCm39)	Q89*	probably null	Het
Or14j1	T	G	17: 38,146,848 (GRCm39)	N319K	probably benign	Het
Ppp2r1a	A	T	17: 21,182,972 (GRCm39)	D552V	possibly damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rnf34	A	G	5: 123,002,273 (GRCm39)	H77R	probably damaging	Het
Samm50	T	C	15: 84,076,575 (GRCm39)	V4A	probably damaging	Het
Sdccag8	A	T	1: 176,695,904 (GRCm39)	R403*	probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp6	A	G	9: 79,994,735 (GRCm39)	R25G	possibly damaging	Het
Shc2	C	T	10: 79,462,707 (GRCm39)	V272I	probably benign	Het
Smarcd3	T	A	5: 24,798,225 (GRCm39)	K403*	probably null	Het
Srgap2	T	A	1: 131,238,297 (GRCm39)	I672F	probably damaging	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Ubash3a	T	C	17: 31,450,444 (GRCm39)	V373A	probably benign	Het
Vav3	A	G	3: 109,535,355 (GRCm39)	K36E	probably benign	Het
Vmn2r65	A	G	7: 84,589,738 (GRCm39)	V726A	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
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

Predicted Primers

PCR Primer
(F):5'- GTCTAGTCAAGCACCATGATTTCTG -3'
(R):5'- GAATGACAGCGCACTCCTATGAAG -3'

Sequencing Primer
(F):5'- GCACCATGATTTCTGATGAACTACC -3'
(R):5'- AGCGCACTCCTATGAAGTTGGTC -3'

Posted On

2015-03-25