Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Lrrc34'

545355

Institutional Source

Beutler Lab

Gene Symbol

Lrrc34

Ensembl Gene

ENSMUSG00000027702

Gene Name

leucine rich repeat containing 34

Synonyms

Spata34, 1700007J06Rik

MMRRC Submission

045118-MU

Accession Numbers

Essential gene?

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

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30678416-30701967 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 30699465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029252] [ENSMUST00000029252] [ENSMUST00000029252] [ENSMUST00000108265] [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 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 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: ENSMUST00000108265

SMART Domains

Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703

Domain	Start	End	E-Value	Type
LRR	68	90	7.05e-1	SMART
LRR	91	114	1.19e1	SMART
Pfam:LRR_7	115	133	1.1e-1	PFAM
LRR	138	161	9.75e0	SMART
LRR	162	185	8.72e0	SMART
LRR	208	230	3.47e0	SMART
LRR	231	254	9.3e-1	SMART
LRR	255	276	1.22e2	SMART
LRR	277	300	4.83e0	SMART
LRR	323	345	6.22e0	SMART
LRR	346	368	6.4e0	SMART
LRR	369	392	1.51e0	SMART
LRR	418	440	2.03e1	SMART
LRR	441	464	2.82e0	SMART
IQ	524	546	8.84e-3	SMART
low complexity region	553	581	N/A	INTRINSIC

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,926 (GRCm39)		probably benign	Het
Acot3	A	T	12: 84,100,077 (GRCm39)		probably benign	Het
Add3	T	A	19: 53,222,284 (GRCm39)	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,618,097 (GRCm39)		probably null	Het
Cacna1i	T	C	15: 80,264,671 (GRCm39)	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,023,596 (GRCm39)	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934 (GRCm39)	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,273,368 (GRCm39)	Y112*	probably null	Het
Cracd	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 77,004,795 (GRCm39)		probably benign	Het
Cyp2d40	A	T	15: 82,644,234 (GRCm39)	F297Y	unknown	Het
Ddx4	C	T	13: 112,738,022 (GRCm39)	V546I	probably damaging	Het
Dgkg	T	C	16: 22,391,463 (GRCm39)	M332V	probably benign	Het
Dnah12	T	C	14: 26,456,835 (GRCm39)	I867T	probably benign	Het
Dnah2	T	A	11: 69,382,373 (GRCm39)	K1246*	probably null	Het
Drd2	G	A	9: 49,312,129 (GRCm39)	V161I	probably benign	Het
Dsp	A	G	13: 38,370,683 (GRCm39)	D862G	probably benign	Het
Ephx4	T	C	5: 107,553,980 (GRCm39)	F10S	probably damaging	Het
Fabp9	C	A	3: 10,259,756 (GRCm39)	A76S	possibly damaging	Het
Fat4	G	A	3: 38,945,692 (GRCm39)	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,529,616 (GRCm39)	S84P	unknown	Het
Fbxo40	T	C	16: 36,790,732 (GRCm39)	D126G	probably damaging	Het
Fpr1	C	T	17: 18,097,654 (GRCm39)	V112I	probably benign	Het
Frem2	T	C	3: 53,427,023 (GRCm39)	N2975S	probably benign	Het
Gask1a	T	C	9: 121,795,052 (GRCm39)		probably null	Het
Gm7945	T	C	14: 41,105,610 (GRCm39)	Y156C		Het
Gnpat	T	C	8: 125,590,014 (GRCm39)	V13A	probably benign	Het
Gpx5	G	A	13: 21,475,561 (GRCm39)	P55L	probably damaging	Het
Hbp1	A	G	12: 31,993,852 (GRCm39)	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,843,533 (GRCm39)	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,392,863 (GRCm39)	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,544,711 (GRCm39)	I484L	possibly damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,171,644 (GRCm39)	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,911,707 (GRCm39)	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,091,780 (GRCm39)	E520K	probably benign	Het
Lvrn	A	G	18: 46,983,745 (GRCm39)	T163A	probably benign	Het
Met	T	A	6: 17,491,286 (GRCm39)	L16*	probably null	Het
Mpzl2	G	T	9: 44,958,587 (GRCm39)	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,202,585 (GRCm39)	I47F	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mybphl	T	A	3: 108,282,154 (GRCm39)	V128E	probably damaging	Het
Nckap5	A	T	1: 126,030,398 (GRCm39)	D231E	probably damaging	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Orm1	T	A	4: 63,263,448 (GRCm39)	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,214,076 (GRCm39)	P954S	probably benign	Het
Pdzd8	G	T	19: 59,333,784 (GRCm39)	S79*	probably null	Het
Pdzd9	T	A	7: 120,262,225 (GRCm39)	H79L	probably benign	Het
Plcg1	A	T	2: 160,600,017 (GRCm39)	I926F	probably damaging	Het
Plec	A	T	15: 76,057,741 (GRCm39)	F4078L	probably damaging	Het
Plek	G	A	11: 17,002,220 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,761,335 (GRCm39)	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,008,224 (GRCm39)	D215E	probably benign	Het
Psg22	C	A	7: 18,458,366 (GRCm39)	S352R	probably benign	Het
Ptchd4	A	G	17: 42,813,626 (GRCm39)	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,290,257 (GRCm39)	N389K	probably benign	Het
Rdh1	A	G	10: 127,598,906 (GRCm39)	D129G	probably benign	Het
Rimbp3	A	G	16: 17,027,610 (GRCm39)	T345A	probably benign	Het
S100a14	T	C	3: 90,434,602 (GRCm39)		probably null	Het
Scamp1	T	A	13: 94,361,423 (GRCm39)	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Srf	T	C	17: 46,861,830 (GRCm39)	T383A	probably benign	Het
St6galnac5	T	C	3: 152,552,040 (GRCm39)	M176V	probably damaging	Het
St8sia1	C	A	6: 142,813,632 (GRCm39)	V177F	probably damaging	Het
Syt12	C	T	19: 4,510,895 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,813,934 (GRCm39)	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,824,513 (GRCm39)	I137V	probably benign	Het
Tenm2	T	A	11: 36,062,236 (GRCm39)	Y543F	probably damaging	Het
Tent5b	T	C	4: 133,213,545 (GRCm39)	S139P	possibly damaging	Het
Tgfbr1	T	C	4: 47,410,728 (GRCm39)	I488T	probably damaging	Het
Tgm1	T	A	14: 55,942,398 (GRCm39)	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,131,722 (GRCm39)	D698V	probably damaging	Het
Tpra1	T	A	6: 88,885,294 (GRCm39)	I82N	probably damaging	Het
Ubr4	T	A	4: 139,120,401 (GRCm39)	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124 (GRCm39)	Y787C	probably damaging	Het
Znfx1	T	C	2: 166,890,454 (GRCm39)	S677G	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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGGGTTCACAGGAATGAG -3'
(R):5'- GATGCTGGTTGGAGTCACAG -3'

Sequencing Primer
(F):5'- GAATGAGAATCAGTGGAAACTTTTG -3'
(R):5'- TTGGAGTCACAGTCTGCCCAC -3'

Posted On

2019-05-13