Mutagenetix > Incidental Mutation

Incidental Mutation 'R4379:Lrrc34'

325228

Institutional Source

Beutler Lab

Gene Symbol

Lrrc34

Ensembl Gene

ENSMUSG00000027702

Gene Name

leucine rich repeat containing 34

Synonyms

Spata34, 1700007J06Rik

MMRRC Submission

041677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30678416-30701967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30685524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 275 (L275P)

Ref Sequence

ENSEMBL: ENSMUSP00000029252 (fasta)

Gene Model

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

AlphaFold

Q9DAM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029252
AA Change: L275P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702
AA Change: L275P

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

Meta Mutation Damage Score

0.4493

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (53/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,915,875 (GRCm39)	H1252Q	probably benign	Het
Adcy3	T	C	12: 4,184,558 (GRCm39)	L78P	probably damaging	Het
Agmat	G	T	4: 141,484,802 (GRCm39)	A282S	probably benign	Het
Akap8	G	T	17: 32,525,534 (GRCm39)	T515K	probably damaging	Het
Akap8l	T	C	17: 32,540,488 (GRCm39)		probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
AW209491	T	C	13: 14,812,412 (GRCm39)	*422Q	probably null	Het
Cdan1	A	G	2: 120,557,099 (GRCm39)	F576L	probably damaging	Het
Cers5	A	G	15: 99,649,134 (GRCm39)	F45L	probably damaging	Het
Dst	A	G	1: 34,267,056 (GRCm39)	I5011V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
En1	A	G	1: 120,531,084 (GRCm39)	N108S	possibly damaging	Het
Entrep3	A	T	3: 89,093,064 (GRCm39)	D274V	probably damaging	Het
Fancd2	T	C	6: 113,538,677 (GRCm39)	S591P	probably benign	Het
Glt1d1	T	C	5: 127,771,346 (GRCm39)	V279A	possibly damaging	Het
Gm10051	C	T	5: 133,504,287 (GRCm39)		noncoding transcript	Het
Gpr158	G	T	2: 21,830,025 (GRCm39)	G690V	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Grm7	T	A	6: 111,223,335 (GRCm39)	N458K	probably benign	Het
Hibadh	G	A	6: 52,597,027 (GRCm39)	S139L	probably damaging	Het
Hivep1	C	T	13: 42,308,906 (GRCm39)	S382F	probably damaging	Het
Ift74	A	G	4: 94,568,171 (GRCm39)	N403D	probably benign	Het
Igkv4-81	A	G	6: 68,967,933 (GRCm39)	L56S	probably damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lmbr1l	G	T	15: 98,807,144 (GRCm39)	C212*	probably null	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Mgam2-ps	T	C	6: 40,810,793 (GRCm39)		noncoding transcript	Het
Mief1	T	G	15: 80,132,160 (GRCm39)	M77R	possibly damaging	Het
Neurod6	T	C	6: 55,656,257 (GRCm39)	T127A	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nlrp12	T	A	7: 3,288,554 (GRCm39)	T653S	probably benign	Het
Nol7	G	T	13: 43,555,051 (GRCm39)	W228L	probably damaging	Het
Nrp1	G	A	8: 129,194,948 (GRCm39)	R468H	probably damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	A	T	14: 30,789,663 (GRCm39)	H785L	probably damaging	Het
Pus7	T	C	5: 23,953,864 (GRCm39)		probably benign	Het
Qser1	G	T	2: 104,596,404 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,095,800 (GRCm39)	V51A	probably damaging	Het
Setbp1	T	C	18: 79,129,896 (GRCm39)	N112S	probably damaging	Het
Svil	C	T	18: 5,046,909 (GRCm39)	H52Y	probably damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,424 (GRCm39)	Y103C	probably damaging	Het
Trim28	A	T	7: 12,763,407 (GRCm39)	D516V	probably damaging	Het
Usp34	T	A	11: 23,334,499 (GRCm39)	N1164K	possibly damaging	Het
Vmn2r115	A	G	17: 23,564,197 (GRCm39)	Y123C	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	Het
Zmynd8	A	T	2: 165,649,858 (GRCm39)		probably null	Het
Zscan4d	A	G	7: 10,898,905 (GRCm39)	V124A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACTTCTTGTTAAGAGTTTGGGATAAA -3'
(R):5'- TCATCCTTGGAAGTTGAGCAAA -3'

Sequencing Primer
(F):5'- GAGGATCCAAGTTCTGTTCACAGC -3'
(R):5'- ATATTGCTAAATTTGCTTCCTCC -3'

Posted On

2015-07-06