Mutagenetix > Incidental Mutation

Incidental Mutation 'R7945:Lrrc34'

649274

Institutional Source

Beutler Lab

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 #

R7945 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30678416-30701967 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 30696886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029252] [ENSMUST00000108267] [ENSMUST00000172350]

AlphaFold

Q9DAM1

Predicted Effect

probably null
Transcript: ENSMUST00000029252

SMART Domains

Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108267

SMART Domains

Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703

Domain	Start	End	E-Value	Type
LRR	83	105	7.05e-1	SMART
LRR	106	129	1.19e1	SMART
Pfam:LRR_7	130	148	1.2e-1	PFAM
LRR	153	176	9.75e0	SMART
LRR	177	200	8.72e0	SMART
LRR	223	245	3.47e0	SMART
LRR	246	269	9.3e-1	SMART
LRR	270	291	1.22e2	SMART
LRR	292	315	4.83e0	SMART
LRR	338	360	6.22e0	SMART
LRR	361	383	6.4e0	SMART
LRR	384	407	1.51e0	SMART
LRR	433	455	2.03e1	SMART
LRR	456	479	2.82e0	SMART
IQ	539	561	8.84e-3	SMART
low complexity region	568	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172350

SMART Domains

Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703

Domain	Start	End	E-Value	Type
LRR	83	105	7.05e-1	SMART
LRR	106	129	1.19e1	SMART
LRR	153	176	9.75e0	SMART
LRR	177	200	8.72e0	SMART
LRR	223	245	3.47e0	SMART
LRR	246	269	9.3e-1	SMART
LRR	270	291	1.22e2	SMART
LRR	292	315	4.83e0	SMART
LRR	338	360	6.22e0	SMART
LRR	361	383	6.4e0	SMART
LRR	384	407	1.51e0	SMART
LRR	433	455	2.03e1	SMART
LRR	456	479	2.82e0	SMART
IQ	539	561	8.84e-3	SMART
low complexity region	568	596	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	A	8: 13,271,929 (GRCm39)	R1610W	probably damaging	Het
Afg3l1	C	A	8: 124,216,661 (GRCm39)	A300E	probably benign	Het
Ano6	A	G	15: 95,839,190 (GRCm39)	Y423C	probably damaging	Het
Armh4	T	A	14: 50,010,670 (GRCm39)	T346S	probably benign	Het
Bltp1	G	A	3: 37,020,042 (GRCm39)	V2093I	probably benign	Het
Casp8ap2	A	G	4: 32,645,909 (GRCm39)	T1661A	probably benign	Het
Cdc42ep1	T	A	15: 78,731,973 (GRCm39)	S139R	possibly damaging	Het
Cep57	A	G	9: 13,730,227 (GRCm39)	Y104H	probably damaging	Het
Chrna4	T	C	2: 180,670,454 (GRCm39)	D434G	probably benign	Het
Clec1a	T	C	6: 129,409,150 (GRCm39)	S159G	probably benign	Het
Cltc	A	T	11: 86,627,967 (GRCm39)	N60K	probably benign	Het
Cpq	T	A	15: 33,594,382 (GRCm39)	D464E	probably benign	Het
Ctcfl	A	C	2: 172,960,451 (GRCm39)	V44G	probably benign	Het
Dcstamp	T	A	15: 39,623,797 (GRCm39)	*471R	probably null	Het
Disp2	G	A	2: 118,623,270 (GRCm39)	R1334H	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,040,434 (GRCm39)	T811A	probably damaging	Het
Fbxo21	T	C	5: 118,146,212 (GRCm39)	Y612H	possibly damaging	Het
Gm8005	T	A	14: 42,260,330 (GRCm39)	D102V		Het
Golgb1	T	C	16: 36,734,466 (GRCm39)	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,583,706 (GRCm39)	Y22C	possibly damaging	Het
Hpse2	T	C	19: 43,373,248 (GRCm39)	N127S	probably benign	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Krtap27-1	T	C	16: 88,468,340 (GRCm39)	N68S	probably benign	Het
Lipo3	T	C	19: 33,533,831 (GRCm39)	M334V	probably benign	Het
Ltbp1	T	G	17: 75,697,546 (GRCm39)	*1713G	probably null	Het
Lypd6b	A	G	2: 49,833,612 (GRCm39)	E84G	probably damaging	Het
Meiosin	T	A	7: 18,834,011 (GRCm39)	K508N	unknown	Het
Mitd1	T	C	1: 37,924,346 (GRCm39)	Y68C	probably damaging	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Mtmr4	T	C	11: 87,495,254 (GRCm39)	V437A	probably damaging	Het
Neb	T	C	2: 52,161,360 (GRCm39)	D2144G	probably damaging	Het
Obscn	T	A	11: 58,984,235 (GRCm39)	E1740V	probably damaging	Het
Or2bd2	A	G	7: 6,443,354 (GRCm39)	T152A	probably benign	Het
Or8i2	A	G	2: 86,852,657 (GRCm39)	V77A	probably benign	Het
Pcsk1	G	A	13: 75,280,211 (GRCm39)	A679T	probably benign	Het
Pdap1	G	A	5: 145,068,249 (GRCm39)	A138V	probably damaging	Het
Pdzph1	T	C	17: 59,239,455 (GRCm39)	T958A	probably damaging	Het
Plekha5	T	A	6: 140,526,201 (GRCm39)	H946Q	possibly damaging	Het
Ppat	C	A	5: 77,063,238 (GRCm39)	V458L	probably benign	Het
Rock1	A	G	18: 10,116,831 (GRCm39)	L435P	probably damaging	Het
Rtn2	T	A	7: 19,020,987 (GRCm39)	S153R	probably benign	Het
Serpinb1c	A	T	13: 33,070,192 (GRCm39)	H123Q	probably benign	Het
Slc1a5	C	A	7: 16,523,807 (GRCm39)	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc7a6	C	T	8: 106,906,239 (GRCm39)	P157L	possibly damaging	Het
Syne2	A	T	12: 75,951,079 (GRCm39)	E410V	probably damaging	Het
Tasor2	A	T	13: 3,626,085 (GRCm39)	S1288R	probably benign	Het
Thoc2l	G	T	5: 104,666,413 (GRCm39)	V312F	possibly damaging	Het
Treh	T	C	9: 44,592,584 (GRCm39)	V63A	probably damaging	Het
Trim50	T	A	5: 135,382,156 (GRCm39)	W3R	probably benign	Het
Ttc6	T	G	12: 57,707,229 (GRCm39)	L712R	possibly damaging	Het
Ttn	G	T	2: 76,715,309 (GRCm39)	Q7928K	unknown	Het
Ugt3a1	T	C	15: 9,284,261 (GRCm39)		probably null	Het
Wapl	T	C	14: 34,399,105 (GRCm39)	I58T	probably benign	Het
Zgrf1	A	G	3: 127,356,409 (GRCm39)	E545G	probably benign	Het
Zmat4	T	A	8: 24,238,436 (GRCm39)	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,524,560 (GRCm39)	P226Q	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
IGL02999:Lrrc34	APN	3	30,688,782 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCATGGAGGCAGACAA -3'
(R):5'- AGATTGCCTCTGTTAGAATTCTCTTA -3'

Sequencing Primer
(F):5'- TTGAAATAATGGGGGAGGGGCTG -3'
(R):5'- GCCTCTGTTAGAATTCTCTTAGCACG -3'

Posted On

2020-09-15