Mutagenetix > Incidental Mutation

Incidental Mutation 'R6019:Hapln1'

478821

Institutional Source

Beutler Lab

Gene Symbol

Hapln1

Ensembl Gene

ENSMUSG00000021613

Gene Name

hyaluronan and proteoglycan link protein 1

Synonyms

LP-1, cartilage linking protein 1, Crtl1l, link protein, CLP, Crtl1

MMRRC Submission

044193-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6019 (G1)

Quality Score

180.009

Status

Validated

Chromosome

Chromosomal Location

89688654-89759951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89756219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 341 (D341G)

Ref Sequence

ENSEMBL: ENSMUSP00000022108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022108]

AlphaFold

Q9QUP5

Predicted Effect

probably benign
Transcript: ENSMUST00000022108
AA Change: D341G

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: D341G

Domain	Start	End	E-Value	Type
IGv	58	143	3.48e-12	SMART
LINK	159	256	7.26e-61	SMART
LINK	260	353	8.35e-52	SMART

Meta Mutation Damage Score

0.1696

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

96% (81/84)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,201 (GRCm39)	H436Y	possibly damaging	Het
Acad10	A	T	5: 121,772,864 (GRCm39)	H472Q	possibly damaging	Het
Ano8	G	A	8: 71,935,024 (GRCm39)	R393C	probably damaging	Het
Arhgap18	T	A	10: 26,736,646 (GRCm39)	V163E	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacng5	T	C	11: 107,775,214 (GRCm39)	M52V	probably benign	Het
Casz1	T	C	4: 149,031,495 (GRCm39)	C1249R	probably damaging	Het
Cenpj	C	T	14: 56,772,272 (GRCm39)	S1086N	probably benign	Het
Chi3l1	T	C	1: 134,117,310 (GRCm39)	F367S	probably benign	Het
Copg2	A	T	6: 30,787,868 (GRCm39)	I610N	possibly damaging	Het
Cpa6	T	C	1: 10,665,868 (GRCm39)	K57E	possibly damaging	Het
D5Ertd579e	C	T	5: 36,787,036 (GRCm39)	A111T	possibly damaging	Het
Dgat2	A	G	7: 98,803,838 (GRCm39)	M361T	probably benign	Het
Dnm3	G	T	1: 161,962,070 (GRCm39)	F46L	probably damaging	Het
Dph7	T	A	2: 24,853,552 (GRCm39)	C122*	probably null	Het
Dspp	A	T	5: 104,325,905 (GRCm39)	D756V	unknown	Het
Efcab3	T	C	11: 104,933,728 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,525,583 (GRCm39)	M1469K	unknown	Het
Fsip2	T	C	2: 82,818,283 (GRCm39)	I4672T	possibly damaging	Het
Gapdh	A	T	6: 125,139,996 (GRCm39)	L67*	probably null	Het
Gpr75	A	G	11: 30,841,640 (GRCm39)	R182G	probably benign	Het
Gsr	G	T	8: 34,183,835 (GRCm39)	A366S	probably damaging	Het
Gypc	A	G	18: 32,663,248 (GRCm39)	I33T	probably damaging	Het
Hnrnpd	A	G	5: 100,115,095 (GRCm39)	S148P	probably benign	Het
Hydin	A	T	8: 111,293,252 (GRCm39)	T3450S	probably benign	Het
Kif20b	T	C	19: 34,927,864 (GRCm39)	V1002A	probably benign	Het
Kif5c	T	C	2: 49,625,521 (GRCm39)	V597A	probably benign	Het
Kntc1	A	G	5: 123,900,579 (GRCm39)	T226A	probably benign	Het
Krt75	C	A	15: 101,482,158 (GRCm39)	V37L	probably benign	Het
L3mbtl2	A	G	15: 81,571,143 (GRCm39)	I668V	probably benign	Het
Lrp1b	G	A	2: 41,192,982 (GRCm39)	A480V	probably damaging	Het
Lrp1b	T	A	2: 41,366,821 (GRCm39)	D485V	probably damaging	Het
Lrrc37a	T	C	11: 103,347,422 (GRCm39)	H3091R	unknown	Het
Msi1	A	G	5: 115,589,550 (GRCm39)	Y361C	probably damaging	Het
Mtus1	G	T	8: 41,536,077 (GRCm39)	N546K	probably benign	Het
Mup17	T	A	4: 61,511,936 (GRCm39)	T113S	probably benign	Het
Myh11	T	A	16: 14,023,938 (GRCm39)	D1479V	probably damaging	Het
Ncor1	C	T	11: 62,263,987 (GRCm39)	E198K	probably benign	Het
Nrde2	A	G	12: 100,098,501 (GRCm39)	V722A	probably benign	Het
Or13a28	T	C	7: 140,217,925 (GRCm39)	F104L	probably benign	Het
Or51f23	C	T	7: 102,453,491 (GRCm39)	R269*	probably null	Het
Or5ac24	C	T	16: 59,165,798 (GRCm39)	D89N	possibly damaging	Het
Otog	A	G	7: 45,938,374 (GRCm39)	M2028V	probably benign	Het
Paox	T	A	7: 139,711,655 (GRCm39)	V169E	probably damaging	Het
Pcsk9	T	G	4: 106,314,073 (GRCm39)	D174A	probably benign	Het
Pde4b	A	G	4: 102,427,966 (GRCm39)	E41G	possibly damaging	Het
Pip4k2c	A	G	10: 127,034,943 (GRCm39)	I419T	probably damaging	Het
Plekhg3	G	T	12: 76,624,715 (GRCm39)	E1186*	probably null	Het
Pole	C	A	5: 110,472,380 (GRCm39)	P1548T	probably benign	Het
Pole	C	T	5: 110,472,381 (GRCm39)	P1548L	probably benign	Het
Polq	A	G	16: 36,882,126 (GRCm39)	E1430G	probably damaging	Het
Potefam3c	A	T	8: 69,881,966 (GRCm39)	C337S	probably benign	Het
Pramel47	G	A	5: 95,488,072 (GRCm39)	S2N	probably damaging	Het
Ptgr2	T	C	12: 84,344,920 (GRCm39)	S98P	probably damaging	Het
Ralgapa1	A	G	12: 55,730,827 (GRCm39)	Y1903H	possibly damaging	Het
Rasgrp1	T	C	2: 117,122,376 (GRCm39)	D338G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnase13	C	T	14: 52,159,860 (GRCm39)	C93Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
S100z	T	A	13: 95,613,934 (GRCm39)	M59L	probably benign	Het
Ska1	T	A	18: 74,332,992 (GRCm39)	D142V	probably benign	Het
Slc16a3	T	C	11: 120,847,931 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,880,233 (GRCm39)	V669A	probably benign	Het
Snrpd3	A	T	10: 75,368,029 (GRCm39)	T49S	probably damaging	Het
Sort1	T	C	3: 108,264,549 (GRCm39)	L856P	possibly damaging	Het
Srek1ip1	T	A	13: 104,970,830 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,875,796 (GRCm39)	S552P	probably damaging	Het
Stab2	A	G	10: 86,838,886 (GRCm39)	V60A	probably benign	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,494,525 (GRCm39)	H743Q	possibly damaging	Het
Tpo	G	T	12: 30,144,980 (GRCm39)	R590S	possibly damaging	Het
Trbv12-1	A	T	6: 41,090,780 (GRCm39)	T51S	probably benign	Het
Trbv30	C	T	6: 41,258,708 (GRCm39)	A40V	probably benign	Het
Tulp4	T	A	17: 6,283,490 (GRCm39)	V1173E	possibly damaging	Het
Upk1a	A	T	7: 30,311,810 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,879,610 (GRCm39)	Q772R	probably benign	Het
Vmn1r199	A	G	13: 22,566,769 (GRCm39)	D21G	possibly damaging	Het
Vmn2r7	T	C	3: 64,623,643 (GRCm39)	T317A	probably damaging	Het
Wdfy3	A	G	5: 101,997,289 (GRCm39)	V3112A	probably damaging	Het
Zbtb8os	T	C	4: 129,234,542 (GRCm39)	V40A	possibly damaging	Het
Zfp1002	T	A	2: 150,097,132 (GRCm39)	H99L	probably damaging	Het
Zwint	A	G	10: 72,492,685 (GRCm39)	K108E	possibly damaging	Het

Other mutations in Hapln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Hapln1	APN	13	89,756,261 (GRCm39)	missense	probably benign	0.00
IGL00494:Hapln1	APN	13	89,753,590 (GRCm39)	missense	probably benign	0.04
IGL01865:Hapln1	APN	13	89,749,784 (GRCm39)	missense	probably damaging	1.00
IGL02706:Hapln1	APN	13	89,753,578 (GRCm39)	missense	possibly damaging	0.86
IGL02990:Hapln1	APN	13	89,749,725 (GRCm39)	missense	probably benign	0.03
R0033:Hapln1	UTSW	13	89,749,932 (GRCm39)	missense	probably benign	0.20
R0058:Hapln1	UTSW	13	89,755,997 (GRCm39)	missense	probably benign	0.17
R0058:Hapln1	UTSW	13	89,755,997 (GRCm39)	missense	probably benign	0.17
R0127:Hapln1	UTSW	13	89,755,988 (GRCm39)	missense	probably benign	0.22
R0519:Hapln1	UTSW	13	89,732,835 (GRCm39)	start gained	probably benign
R3862:Hapln1	UTSW	13	89,753,418 (GRCm39)	nonsense	probably null
R3982:Hapln1	UTSW	13	89,753,560 (GRCm39)	missense	probably benign
R4717:Hapln1	UTSW	13	89,753,579 (GRCm39)	missense	probably benign	0.11
R4861:Hapln1	UTSW	13	89,749,571 (GRCm39)	missense	possibly damaging	0.65
R4861:Hapln1	UTSW	13	89,749,571 (GRCm39)	missense	possibly damaging	0.65
R4862:Hapln1	UTSW	13	89,749,571 (GRCm39)	missense	possibly damaging	0.65
R4899:Hapln1	UTSW	13	89,749,769 (GRCm39)	missense	possibly damaging	0.90
R5402:Hapln1	UTSW	13	89,753,530 (GRCm39)	missense	probably benign	0.07
R5629:Hapln1	UTSW	13	89,749,634 (GRCm39)	missense	probably damaging	0.98
R7917:Hapln1	UTSW	13	89,755,997 (GRCm39)	missense	probably benign	0.17
R7938:Hapln1	UTSW	13	89,753,347 (GRCm39)	missense	probably damaging	0.99
R8312:Hapln1	UTSW	13	89,749,563 (GRCm39)	missense	probably benign
R8345:Hapln1	UTSW	13	89,732,902 (GRCm39)	missense	probably benign
Z1088:Hapln1	UTSW	13	89,749,617 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACTCACCTACGATGAGGCG -3'
(R):5'- GGCCTTTATGAAAACGACTCTTTAC -3'

Sequencing Primer
(F):5'- CGGTGCAAGCTTGTCTCAATGAC -3'
(R):5'- CGACTCTTTACAGTAAGTGAAAAAGG -3'

Posted On

2017-06-26