Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02706:Hapln1'

304359

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

89688654-89759951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89753578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 248 (S248I)

Ref Sequence

ENSEMBL: ENSMUSP00000022108 (fasta)

Gene Model

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

AlphaFold

Q9QUP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022108
AA Change: S248I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: S248I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225678

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,517,966 (GRCm39)	E781G	probably benign	Het
Abcc8	C	T	7: 45,816,345 (GRCm39)	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,370,027 (GRCm39)	I193N	probably benign	Het
Atp6v1e2	A	G	17: 87,252,362 (GRCm39)	I12T	probably damaging	Het
Cacna1g	T	C	11: 94,347,818 (GRCm39)	T757A	probably damaging	Het
Cldn15	A	G	5: 137,003,685 (GRCm39)	K200R	probably benign	Het
Dip2b	G	T	15: 100,113,192 (GRCm39)	V1302F	probably damaging	Het
Dnajb6	T	A	5: 29,957,421 (GRCm39)	Y68N	probably damaging	Het
Dok1	T	A	6: 83,009,315 (GRCm39)	E179V	probably damaging	Het
Epha4	T	C	1: 77,403,482 (GRCm39)	T342A	probably damaging	Het
Etf1	A	T	18: 35,064,690 (GRCm39)	S6R	possibly damaging	Het
Fryl	T	C	5: 73,250,506 (GRCm39)	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257 (GRCm39)	G897S	probably benign	Het
Habp2	G	T	19: 56,298,570 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,137,198 (GRCm39)	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,359,222 (GRCm39)	H1074L	probably damaging	Het
Kctd9	T	C	14: 67,962,130 (GRCm39)		probably null	Het
L3mbtl4	A	G	17: 68,793,914 (GRCm39)	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,780,090 (GRCm39)	R49G	probably damaging	Het
Lpo	C	T	11: 87,708,599 (GRCm39)	S133N	probably benign	Het
Lrp8	A	T	4: 107,660,516 (GRCm39)	R59*	probably null	Het
Mctp1	T	C	13: 76,971,188 (GRCm39)	F629S	probably damaging	Het
Med1	A	G	11: 98,047,533 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,944,699 (GRCm39)	H555R	probably damaging	Het
Nedd1	T	C	10: 92,522,147 (GRCm39)	H630R	possibly damaging	Het
Nr3c2	A	T	8: 77,635,045 (GRCm39)		probably null	Het
Nubp2	A	T	17: 25,102,171 (GRCm39)	V267E	probably benign	Het
Oacyl	A	T	18: 65,882,792 (GRCm39)	Y629F	probably damaging	Het
Or1n1b	A	G	2: 36,780,731 (GRCm39)	I43T	probably damaging	Het
Or1x2	T	A	11: 50,918,091 (GRCm39)	H87Q	probably damaging	Het
Or5b119	A	T	19: 13,457,462 (GRCm39)	Y33*	probably null	Het
Pknox2	T	C	9: 36,847,675 (GRCm39)	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,790,134 (GRCm39)	D564G	possibly damaging	Het
Ppp3ca	T	G	3: 136,611,079 (GRCm39)	N367K	possibly damaging	Het
Ptprn2	T	C	12: 116,852,518 (GRCm39)	V525A	probably damaging	Het
Reps1	T	G	10: 17,998,763 (GRCm39)		probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sipa1l1	A	G	12: 82,444,207 (GRCm39)	I973V	possibly damaging	Het
Ssh2	T	A	11: 77,344,232 (GRCm39)	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,395 (GRCm39)	F250L	probably benign	Het
Ube3a	T	A	7: 58,921,881 (GRCm39)	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,338,659 (GRCm39)		probably benign	Het
Zdhhc8	G	T	16: 18,042,758 (GRCm39)	L481I	probably damaging	Het
Zfp574	A	G	7: 24,780,790 (GRCm39)	H604R	probably damaging	Het
Zfp945	A	T	17: 23,076,256 (GRCm39)	M63K	probably 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
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
R6019:Hapln1	UTSW	13	89,756,219 (GRCm39)	missense	probably benign	0.45
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

Posted On

2015-04-16