Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02999:Lrrc34'

407235

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc34

Ensembl Gene

ENSMUSG00000027702

Gene Name

leucine rich repeat containing 34

Synonyms

Spata34, 1700007J06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02999

Quality Score

Status

Chromosome

Chromosomal Location

30678416-30701967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30688782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 173 (Q173L)

Ref Sequence

ENSEMBL: ENSMUSP00000029252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029252]

AlphaFold

Q9DAM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029252
AA Change: Q173L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702
AA Change: Q173L

Domain	Start	End	E-Value	Type
LRR	73	100	2.23e2	SMART
LRR	101	128	6.92e-1	SMART
LRR	129	156	1.78e0	SMART
LRR	157	184	1.67e-2	SMART
Blast:LRR	216	242	2e-9	BLAST
LRR	244	271	2.57e-3	SMART
LRR	272	299	5.59e-4	SMART
LRR	301	328	4.16e0	SMART
LRR	329	356	1.66e2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,424 (GRCm39)	R297S	possibly damaging	Het
Abca13	G	A	11: 9,531,757 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,908,100 (GRCm39)	V94D	probably damaging	Het
Adgrv1	C	T	13: 81,726,973 (GRCm39)	A460T	probably benign	Het
Atp8a2	C	A	14: 60,162,571 (GRCm39)	E717*	probably null	Het
Brinp3	A	T	1: 146,577,587 (GRCm39)		probably null	Het
Camk1d	C	A	2: 5,359,516 (GRCm39)	V177L	probably benign	Het
Chst11	A	G	10: 83,027,538 (GRCm39)	I322V	possibly damaging	Het
Cobl	T	C	11: 12,293,869 (GRCm39)	T296A	possibly damaging	Het
Dcc	A	C	18: 71,511,749 (GRCm39)	F869V	possibly damaging	Het
Dock2	G	T	11: 34,583,086 (GRCm39)	T609K	probably damaging	Het
Ercc5	A	G	1: 44,206,814 (GRCm39)	T576A	probably benign	Het
Faf1	A	G	4: 109,719,090 (GRCm39)	I399V	probably benign	Het
Fndc3b	T	G	3: 27,592,388 (GRCm39)	E170A	probably damaging	Het
Ggt7	C	A	2: 155,344,633 (GRCm39)	V237L	probably benign	Het
Hectd1	G	T	12: 51,874,205 (GRCm39)	Q24K	possibly damaging	Het
Krt19	T	C	11: 100,032,235 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,370,239 (GRCm39)	L259P	probably damaging	Het
Limd1	T	C	9: 123,345,864 (GRCm39)	Y548H	probably damaging	Het
Lingo2	A	G	4: 35,708,744 (GRCm39)	I412T	probably damaging	Het
Lrrn3	A	T	12: 41,502,750 (GRCm39)	N522K	probably benign	Het
Mgat4e	A	C	1: 134,468,928 (GRCm39)	L372R	probably damaging	Het
Nedd4l	A	G	18: 65,331,778 (GRCm39)	D638G	probably damaging	Het
Olfm3	T	C	3: 114,916,397 (GRCm39)	M423T	probably damaging	Het
Or8g54	T	C	9: 39,706,752 (GRCm39)	L27P	probably damaging	Het
Pcsk7	T	A	9: 45,838,897 (GRCm39)	I603N	possibly damaging	Het
Ptpn2	A	G	18: 67,814,580 (GRCm39)	V143A	probably damaging	Het
Rabgap1	C	A	2: 37,373,838 (GRCm39)	D283E	possibly damaging	Het
Reln	G	A	5: 22,200,363 (GRCm39)	S1379F	probably damaging	Het
Rpap2	T	A	5: 107,749,697 (GRCm39)	F74I	possibly damaging	Het
Sel1l2	T	C	2: 140,072,724 (GRCm39)	E637G	probably damaging	Het
Slc28a2b	T	C	2: 122,344,995 (GRCm39)		probably benign	Het
St18	T	A	1: 6,887,829 (GRCm39)	V466E	probably benign	Het
Stac	C	A	9: 111,433,198 (GRCm39)	G207C	probably damaging	Het
Stra6	T	A	9: 58,042,396 (GRCm39)	N8K	probably benign	Het
Sytl4	C	T	X: 132,838,727 (GRCm39)	R649Q	probably benign	Het
Tas1r3	A	G	4: 155,946,816 (GRCm39)	V263A	probably damaging	Het
Tprg1	T	C	16: 25,136,218 (GRCm39)	Y70H	probably damaging	Het

Other mutations in Lrrc34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Lrrc34	APN	3	30,699,394 (GRCm39)	missense	probably benign	0.12
IGL02738:Lrrc34	APN	3	30,685,441 (GRCm39)	missense	possibly damaging	0.82
IGL02985:Lrrc34	APN	3	30,690,444 (GRCm39)	missense	probably benign	0.32
R0367:Lrrc34	UTSW	3	30,684,142 (GRCm39)	missense	probably benign	0.08
R0761:Lrrc34	UTSW	3	30,685,425 (GRCm39)	splice site	probably null
R1426:Lrrc34	UTSW	3	30,697,728 (GRCm39)	unclassified	probably benign
R1980:Lrrc34	UTSW	3	30,696,890 (GRCm39)	missense	probably benign	0.33
R2215:Lrrc34	UTSW	3	30,697,678 (GRCm39)	missense	probably benign	0.03
R2414:Lrrc34	UTSW	3	30,688,711 (GRCm39)	missense	probably benign	0.00
R4379:Lrrc34	UTSW	3	30,685,524 (GRCm39)	missense	probably damaging	1.00
R5214:Lrrc34	UTSW	3	30,690,397 (GRCm39)	nonsense	probably null
R5418:Lrrc34	UTSW	3	30,696,923 (GRCm39)	missense	possibly damaging	0.85
R5662:Lrrc34	UTSW	3	30,685,473 (GRCm39)	missense	probably benign	0.03
R6736:Lrrc34	UTSW	3	30,679,008 (GRCm39)	missense	probably benign	0.03
R6809:Lrrc34	UTSW	3	30,688,749 (GRCm39)	missense	possibly damaging	0.80
R6941:Lrrc34	UTSW	3	30,678,969 (GRCm39)	missense	probably benign	0.01
R7017:Lrrc34	UTSW	3	30,699,465 (GRCm39)	critical splice acceptor site	probably null
R7080:Lrrc34	UTSW	3	30,688,705 (GRCm39)	missense	probably damaging	0.96
R7139:Lrrc34	UTSW	3	30,679,036 (GRCm39)	missense	probably benign	0.22
R7191:Lrrc34	UTSW	3	30,679,027 (GRCm39)	missense	possibly damaging	0.61
R7398:Lrrc34	UTSW	3	30,697,491 (GRCm39)	missense	probably damaging	1.00
R7662:Lrrc34	UTSW	3	30,697,452 (GRCm39)	missense	probably benign	0.16
R7707:Lrrc34	UTSW	3	30,679,041 (GRCm39)	missense	probably benign	0.00
R7945:Lrrc34	UTSW	3	30,696,886 (GRCm39)	critical splice donor site	probably null
R8799:Lrrc34	UTSW	3	30,678,979 (GRCm39)	missense	probably benign	0.06
R9764:Lrrc34	UTSW	3	30,697,467 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02