Mutagenetix > Incidental Mutation

Incidental Mutation 'R4222:Hapln4'

319407

Institutional Source

Beutler Lab

Gene Symbol

Hapln4

Ensembl Gene

ENSMUSG00000007594

Gene Name

hyaluronan and proteoglycan link protein 4

Synonyms

Bral2

MMRRC Submission

041042-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4222 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

70536179-70543512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70539610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 214 (W214R)

Ref Sequence

ENSEMBL: ENSMUSP00000007738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007738]

AlphaFold

Q80WM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000007738
AA Change: W214R

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

SMART Domains

Protein: ENSMUSP00000007738
Gene: ENSMUSG00000007594
AA Change: W214R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	60	151	6.16e-4	SMART
LINK	162	266	5.23e-44	SMART
LINK	270	363	1.33e-36	SMART
low complexity region	364	388	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213092

Meta Mutation Damage Score

0.9628

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

91% (49/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	G	17: 56,092,121 (GRCm39)	Y127C	probably damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Alkal1	A	G	1: 6,458,839 (GRCm39)	K76R	probably damaging	Het
Atm	T	C	9: 53,391,969 (GRCm39)	S1807G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm39)		noncoding transcript	Het
Brd10	A	T	19: 29,696,149 (GRCm39)	S1115T	probably benign	Het
Cyp3a11	A	T	5: 145,797,276 (GRCm39)	Y368N	probably damaging	Het
Gar1	A	T	3: 129,624,455 (GRCm39)		probably benign	Het
Gm5265	A	T	1: 169,281,370 (GRCm39)		noncoding transcript	Het
Gm7964	T	G	7: 83,406,030 (GRCm39)	N281K	probably damaging	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
H1f5	A	T	13: 21,964,147 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,372,010 (GRCm39)	Y200C	probably damaging	Het
Irgq	C	A	7: 24,233,050 (GRCm39)	A297D	possibly damaging	Het
Kri1	T	C	9: 21,192,359 (GRCm39)	E145G	probably benign	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Mrpl22	T	A	11: 58,062,693 (GRCm39)		probably benign	Het
Myo7a	T	A	7: 97,722,436 (GRCm39)	Q1163L	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm39)	D172E	probably benign	Het
Nrxn3	G	T	12: 89,499,762 (GRCm39)	G718*	probably null	Het
Olfm3	C	T	3: 114,883,820 (GRCm39)	Q41*	probably null	Het
Or52z12	A	G	7: 103,233,966 (GRCm39)	T246A	probably damaging	Het
Or8u8	G	T	2: 86,012,341 (GRCm39)	T38K	probably damaging	Het
Parm1	G	A	5: 91,741,726 (GRCm39)	M31I	probably benign	Het
Phc3	A	T	3: 30,990,968 (GRCm39)	S383R	probably damaging	Het
Pkn2	A	T	3: 142,499,627 (GRCm39)	L950*	probably null	Het
Plec	C	T	15: 76,061,519 (GRCm39)	R2671H	probably damaging	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Ptk7	A	T	17: 46,885,389 (GRCm39)	M679K	probably benign	Het
Ptx3	C	T	3: 66,132,127 (GRCm39)	T216I	probably damaging	Het
Rrp8	T	C	7: 105,383,229 (GRCm39)	I346V	possibly damaging	Het
Rsrc1	A	G	3: 66,901,900 (GRCm39)	K17E	unknown	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Semp2l2a	T	C	8: 13,888,061 (GRCm39)	E10G	probably benign	Het
Slc25a45	A	T	19: 5,930,146 (GRCm39)	I39F	probably damaging	Het
Spag5	G	A	11: 78,195,337 (GRCm39)	V215I	probably damaging	Het
Ston1	A	G	17: 88,944,199 (GRCm39)	Y535C	probably damaging	Het
Tbc1d14	A	T	5: 36,650,452 (GRCm39)	S395T	probably benign	Het
Tlr11	C	T	14: 50,599,306 (GRCm39)	P431S	probably damaging	Het
Trerf1	G	T	17: 47,625,727 (GRCm39)		noncoding transcript	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Vmn1r49	A	G	6: 90,049,228 (GRCm39)	F258S	probably benign	Het
Vmn1r-ps103	C	A	13: 22,626,198 (GRCm39)		noncoding transcript	Het
Vmn2r14	A	G	5: 109,364,149 (GRCm39)	M589T	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Zbtb5	A	G	4: 44,993,855 (GRCm39)		probably null	Het
Zfp35	T	G	18: 24,136,246 (GRCm39)	F197V	possibly damaging	Het

Other mutations in Hapln4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
happen	UTSW	8	70,537,073 (GRCm39)	unclassified	probably benign
R0141:Hapln4	UTSW	8	70,540,930 (GRCm39)	missense	probably damaging	1.00
R0331:Hapln4	UTSW	8	70,537,159 (GRCm39)	missense	probably damaging	0.96
R0456:Hapln4	UTSW	8	70,537,645 (GRCm39)	missense	probably benign	0.00
R0457:Hapln4	UTSW	8	70,541,122 (GRCm39)	nonsense	probably null
R2139:Hapln4	UTSW	8	70,540,788 (GRCm39)	missense	probably benign	0.27
R3752:Hapln4	UTSW	8	70,539,615 (GRCm39)	missense	probably damaging	1.00
R4863:Hapln4	UTSW	8	70,537,142 (GRCm39)	missense	possibly damaging	0.96
R6331:Hapln4	UTSW	8	70,537,073 (GRCm39)	unclassified	probably benign
R6717:Hapln4	UTSW	8	70,537,740 (GRCm39)	missense	probably damaging	0.99
R9627:Hapln4	UTSW	8	70,539,520 (GRCm39)	missense	possibly damaging	0.66
R9749:Hapln4	UTSW	8	70,539,724 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCCTGACAGACTCCTATTTGTC -3'
(R):5'- AAATAAGTGCTGGAGACCCG -3'

Sequencing Primer
(F):5'- TGTCTTCGTCCACCCAGGG -3'
(R):5'- GACCCGCTTCTTTGGAAAAG -3'

Posted On

2015-06-10