Mutagenetix > Incidental Mutation

Incidental Mutation 'R2417:Lrrc14'

249044

Institutional Source

Beutler Lab

Gene Symbol

Lrrc14

Ensembl Gene

ENSMUSG00000033728

Gene Name

leucine rich repeat containing 14

Synonyms

E130306I01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76594820-76599297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76597621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 117 (L117Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036423] [ENSMUST00000036852] [ENSMUST00000049956] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000155735] [ENSMUST00000155225] [ENSMUST00000230724] [ENSMUST00000230544] [ENSMUST00000142610]

AlphaFold

Q8VC16

Predicted Effect

probably damaging
Transcript: ENSMUST00000036423
AA Change: L117Q

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

SMART Domains

Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
AA Change: L117Q

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036852

SMART Domains

Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

Domain	Start	End	E-Value	Type
Pfam:Drc1-Sld2	4	132	2.8e-14	PFAM
low complexity region	169	187	N/A	INTRINSIC
low complexity region	368	379	N/A	INTRINSIC
ZnF_C2HC	394	410	5.67e-5	SMART
DEXDc	494	701	5.86e-28	SMART
HELICc	736	831	1.48e-24	SMART
Blast:DEXDc	902	1117	3e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000049956

SMART Domains

Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LRRNT	30	62	1.04e-2	SMART
LRR	61	80	3.18e2	SMART
LRR_TYP	81	104	2.99e-4	SMART
LRR	106	128	3.87e1	SMART
LRR_TYP	129	152	8.22e-2	SMART
LRR_TYP	153	176	5.06e-2	SMART
LRR	177	200	2.02e-1	SMART
LRRCT	212	266	2e-10	SMART
IGc2	280	360	1.02e-9	SMART
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127208
AA Change: L117Q

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

SMART Domains

Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
AA Change: L117Q

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000136840
AA Change: L117Q

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

SMART Domains

Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728
AA Change: L117Q

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000137649
AA Change: L117Q

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

SMART Domains

Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
AA Change: L117Q

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138132

Predicted Effect

probably damaging
Transcript: ENSMUST00000155735
AA Change: L117Q

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

SMART Domains

Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
AA Change: L117Q

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142506

Predicted Effect

probably benign
Transcript: ENSMUST00000155225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229360

Predicted Effect

probably benign
Transcript: ENSMUST00000230724

Predicted Effect

probably benign
Transcript: ENSMUST00000230544

Predicted Effect

probably benign
Transcript: ENSMUST00000142610

SMART Domains

Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	A	17: 41,191,101 (GRCm39)	K109N	probably benign	Het
Adcy3	T	C	12: 4,258,627 (GRCm39)	V848A	probably benign	Het
Ahnak2	G	A	12: 112,741,805 (GRCm39)	P756S	probably damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Arhgef38	T	C	3: 132,852,234 (GRCm39)	K319E	probably damaging	Het
Bbs7	C	T	3: 36,646,546 (GRCm39)	A425T	probably damaging	Het
Cacna1e	T	A	1: 154,347,939 (GRCm39)	R879W	probably damaging	Het
Cfap65	GTCTT	GTCTTCTT	1: 74,966,345 (GRCm39)		probably benign	Het
Cpsf7	T	C	19: 10,503,332 (GRCm39)		probably benign	Het
Ctf2	A	G	7: 127,318,759 (GRCm39)	V80A	probably benign	Het
Ddhd1	A	G	14: 45,894,729 (GRCm39)	L30P	probably damaging	Het
Eml1	A	G	12: 108,502,534 (GRCm39)	D700G	probably benign	Het
Epha7	C	T	4: 28,947,579 (GRCm39)	P613L	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Itih3	G	A	14: 30,639,621 (GRCm39)	T400I	probably benign	Het
Ncbp1	C	T	4: 46,168,530 (GRCm39)	S626L	probably benign	Het
Nefh	C	T	11: 4,889,479 (GRCm39)	D1047N	unknown	Het
Ptprm	T	G	17: 67,251,321 (GRCm39)	T519P	probably damaging	Het
Sorl1	T	G	9: 41,892,007 (GRCm39)	D1881A	probably damaging	Het
Sox12	T	C	2: 152,238,717 (GRCm39)	D301G	possibly damaging	Het
Vmn2r14	C	T	5: 109,372,329 (GRCm39)	E54K	probably benign	Het
Vmn2r26	A	G	6: 124,038,309 (GRCm39)	N628S	probably damaging	Het
Zfp143	G	A	7: 109,668,803 (GRCm39)	V36M	possibly damaging	Het
Zfp850	A	T	7: 27,688,608 (GRCm39)	N533K	possibly damaging	Het

Other mutations in Lrrc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Lrrc14	APN	15	76,597,942 (GRCm39)	missense	probably damaging	0.99
IGL03213:Lrrc14	APN	15	76,597,983 (GRCm39)	missense	possibly damaging	0.95
Sojourn	UTSW	15	76,597,646 (GRCm39)	missense	possibly damaging	0.91
Sumo	UTSW	15	76,597,765 (GRCm39)	missense	probably benign	0.17
R0302:Lrrc14	UTSW	15	76,598,552 (GRCm39)	missense	probably benign	0.28
R3423:Lrrc14	UTSW	15	76,597,318 (GRCm39)	splice site	probably null
R3930:Lrrc14	UTSW	15	76,597,765 (GRCm39)	missense	probably benign	0.17
R3931:Lrrc14	UTSW	15	76,597,765 (GRCm39)	missense	probably benign	0.17
R4622:Lrrc14	UTSW	15	76,600,540 (GRCm39)	unclassified	probably benign
R4863:Lrrc14	UTSW	15	76,597,562 (GRCm39)	splice site	probably null
R5290:Lrrc14	UTSW	15	76,598,143 (GRCm39)	missense	probably benign	0.17
R5451:Lrrc14	UTSW	15	76,598,173 (GRCm39)	missense	probably benign	0.01
R5950:Lrrc14	UTSW	15	76,599,510 (GRCm39)	unclassified	probably benign
R6561:Lrrc14	UTSW	15	76,597,646 (GRCm39)	missense	possibly damaging	0.91
R6609:Lrrc14	UTSW	15	76,598,453 (GRCm39)	missense	probably benign
R7341:Lrrc14	UTSW	15	76,598,711 (GRCm39)	missense	probably damaging	1.00
R7638:Lrrc14	UTSW	15	76,598,173 (GRCm39)	missense	probably benign	0.01
R8046:Lrrc14	UTSW	15	76,598,731 (GRCm39)	missense	possibly damaging	0.78
R8223:Lrrc14	UTSW	15	76,598,756 (GRCm39)	missense	probably damaging	1.00
R8393:Lrrc14	UTSW	15	76,598,398 (GRCm39)	missense	probably damaging	1.00
R8707:Lrrc14	UTSW	15	76,597,416 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTCAAGAAACAGAGGCTGGC -3'
(R):5'- AAGGAATGTGTACGAGGCCC -3'

Sequencing Primer
(F):5'- CATTTATCTAGGGGGCCCATAG -3'
(R):5'- TGTACGAGGCCCGGTTTAC -3'

Posted On

2014-11-12