Mutagenetix > Incidental Mutation

Incidental Mutation 'R6717:Hapln4'

529438

Institutional Source

Beutler Lab

Gene Symbol

Hapln4

Ensembl Gene

ENSMUSG00000007594

Gene Name

hyaluronan and proteoglycan link protein 4

Synonyms

Bral2

MMRRC Submission

044835-MU

Accession Numbers

Essential gene?

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

Stock #

R6717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70536179-70543512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70537740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 145 (E145K)

Ref Sequence

ENSEMBL: ENSMUSP00000007738 (fasta)

Gene Model

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

AlphaFold

Q80WM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000007738
AA Change: E145K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007738
Gene: ENSMUSG00000007594
AA Change: E145K

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	T	5: 4,114,086 (GRCm39)	L3122F	probably damaging	Het
Atp6v1b1	A	T	6: 83,730,632 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,153,946 (GRCm39)	V621E	probably damaging	Het
Cfap126	T	C	1: 170,941,671 (GRCm39)		probably null	Het
Cog2	T	C	8: 125,252,488 (GRCm39)	I64T	probably damaging	Het
Dhx9	A	C	1: 153,349,210 (GRCm39)		probably null	Het
Efcab7	A	G	4: 99,761,931 (GRCm39)	D407G	possibly damaging	Het
Eif2b5	G	T	16: 20,324,033 (GRCm39)	G459C	probably damaging	Het
Eml5	T	C	12: 98,793,765 (GRCm39)	E1168G	probably damaging	Het
Flnc	AGCTGTCAAGTATGCTG	AGCTG	6: 29,450,901 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,419,777 (GRCm39)	T980A	probably benign	Het
Gabbr2	A	G	4: 46,787,574 (GRCm39)	V363A	possibly damaging	Het
Ggt6	T	A	11: 72,328,346 (GRCm39)	L244*	probably null	Het
Gprc6a	T	A	10: 51,491,233 (GRCm39)	I768F	probably damaging	Het
Grk1	G	A	8: 13,466,237 (GRCm39)	M560I	probably benign	Het
Hoxd9	C	T	2: 74,528,733 (GRCm39)	P112S	probably benign	Het
Ly6g6f	T	A	17: 35,304,550 (GRCm39)	M1L	probably benign	Het
Mast1	T	C	8: 85,644,383 (GRCm39)	T849A	probably benign	Het
Mob4	A	T	1: 55,175,872 (GRCm39)	M39L	possibly damaging	Het
Mrgpre	A	T	7: 143,335,260 (GRCm39)	L81Q	probably damaging	Het
Mst1	T	C	9: 107,957,774 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,411,559 (GRCm39)	R1502*	probably null	Het
Or4b13	T	A	2: 90,082,868 (GRCm39)	I155L	probably benign	Het
Or5ap2	T	A	2: 85,680,567 (GRCm39)	I257N	probably damaging	Het
Or9e1	T	C	11: 58,732,113 (GRCm39)	Y58H	probably damaging	Het
Pdc	A	G	1: 150,208,769 (GRCm39)	D84G	probably damaging	Het
Peak1	T	C	9: 56,114,523 (GRCm39)	N443D	probably benign	Het
Pkd1l3	T	A	8: 110,341,401 (GRCm39)	W85R	unknown	Het
Pramel31	G	T	4: 144,089,227 (GRCm39)	V182L	probably benign	Het
Rfc1	G	A	5: 65,459,347 (GRCm39)	Q190*	probably null	Het
Rfc1	A	G	5: 65,470,304 (GRCm39)	S68P	probably damaging	Het
Rnf145	T	C	11: 44,452,317 (GRCm39)	V432A	probably benign	Het
Ror2	A	G	13: 53,273,018 (GRCm39)	S204P	probably damaging	Het
Scn1a	T	C	2: 66,162,631 (GRCm39)	E205G	probably damaging	Het
Slc2a8	A	C	2: 32,866,189 (GRCm39)	M277R	probably damaging	Het
Slc4a1	T	C	11: 102,245,249 (GRCm39)	Y566C	probably damaging	Het
Slc6a12	A	G	6: 121,331,262 (GRCm39)	N185S	probably benign	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Stk33	T	A	7: 108,926,823 (GRCm39)	T279S	possibly damaging	Het
Taok3	A	G	5: 117,379,015 (GRCm39)		probably benign	Het
Tlr11	A	G	14: 50,599,561 (GRCm39)	T516A	probably benign	Het
Tmem132c	T	A	5: 127,641,093 (GRCm39)	L1088Q	possibly damaging	Het
Tmem132d	T	A	5: 127,861,485 (GRCm39)	M879L	probably benign	Het
Tnk2	A	G	16: 32,489,687 (GRCm39)	E322G	probably damaging	Het
Ttc28	T	C	5: 111,433,302 (GRCm39)	V2081A	probably benign	Het
Ttn	C	T	2: 76,624,753 (GRCm39)		probably null	Het
Zfp105	T	C	9: 122,759,373 (GRCm39)	V348A	possibly damaging	Het
Zswim2	T	C	2: 83,745,753 (GRCm39)	R562G	probably benign	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
R4222:Hapln4	UTSW	8	70,539,610 (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
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'- CGAAAGTGGTAGACCCTTTGG -3'
(R):5'- TGCTGATCGCTGCAAATGC -3'

Sequencing Primer
(F):5'- AAAGTGGTAGACCCTTTGGCTTTC -3'
(R):5'- TTAGGCAGGCCTTCACACAGTG -3'

Posted On

2018-08-01