Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Hapln1'

442012

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

043280-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89688654-89759951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89749634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 60 (T60A)

Ref Sequence

ENSEMBL: ENSMUSP00000022108 (fasta)

Gene Model

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

AlphaFold

Q9QUP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022108
AA Change: T60A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022108
Gene: ENSMUSG00000021613
AA Change: T60A

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

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCATATAGTGAATGGGCC -3'
(R):5'- CTCCAGGGTAAGATCCGTGATG -3'

Sequencing Primer
(F):5'- CCATATAGTGAATGGGCCAGATAGC -3'
(R):5'- CCAGGGAGGCATCATTATCACTG -3'

Posted On

2016-11-08