Mutagenetix > Incidental Mutation

Incidental Mutation 'R0457:Lrrc14b'

41243

Institutional Source

Beutler Lab

Gene Symbol

Lrrc14b

Ensembl Gene

ENSMUSG00000021579

Gene Name

leucine rich repeat containing 14B

Synonyms

MMRRC Submission

038657-MU

Accession Numbers

Essential gene?

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

Stock #

R0457 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

74507701-74512119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74509279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 376 (M376T)

Ref Sequence

ENSEMBL: ENSMUSP00000022064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022063] [ENSMUST00000022064] [ENSMUST00000159931] [ENSMUST00000160021] [ENSMUST00000162376] [ENSMUST00000162672]

AlphaFold

Q3UJB3

Predicted Effect

probably benign
Transcript: ENSMUST00000022063

SMART Domains

Protein: ENSMUSP00000022063
Gene: ENSMUSG00000021578

Domain	Start	End	E-Value	Type
coiled coil region	78	140	N/A	INTRINSIC
low complexity region	242	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022064
AA Change: M376T

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579
AA Change: M376T

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	208	417	8e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159931

SMART Domains

Protein: ENSMUSP00000124009
Gene: ENSMUSG00000021578

Domain	Start	End	E-Value	Type
transmembrane domain	26	45	N/A	INTRINSIC
coiled coil region	78	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160021

SMART Domains

Protein: ENSMUSP00000124193
Gene: ENSMUSG00000021578

Domain	Start	End	E-Value	Type
transmembrane domain	26	45	N/A	INTRINSIC
coiled coil region	78	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162376

SMART Domains

Protein: ENSMUSP00000123805
Gene: ENSMUSG00000021578

Domain	Start	End	E-Value	Type
transmembrane domain	26	45	N/A	INTRINSIC
coiled coil region	78	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223491

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,844,054 (GRCm39)	I249M	possibly damaging	Het
Adcy5	T	C	16: 35,094,915 (GRCm39)	S691P	probably benign	Het
Ajm1	G	T	2: 25,468,358 (GRCm39)	R518S	possibly damaging	Het
Aspscr1	A	G	11: 120,568,444 (GRCm39)	E12G	probably benign	Het
Atp2a2	T	C	5: 122,607,777 (GRCm39)	Q244R	probably benign	Het
Birc6	A	G	17: 74,959,023 (GRCm39)	M3818V	probably benign	Het
Birc6	C	T	17: 74,969,620 (GRCm39)	A4230V	probably damaging	Het
Bub1b	T	C	2: 118,440,340 (GRCm39)	F148S	probably damaging	Het
C1ra	T	C	6: 124,499,712 (GRCm39)	S633P	probably benign	Het
Cacna2d1	A	G	5: 16,472,414 (GRCm39)	T274A	probably damaging	Het
Cmya5	A	G	13: 93,232,095 (GRCm39)	W998R	possibly damaging	Het
Crbn	T	C	6: 106,758,018 (GRCm39)	K404R	probably benign	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Csmd1	C	A	8: 16,551,407 (GRCm39)		probably null	Het
Defa-ps1	A	T	8: 22,185,758 (GRCm39)		noncoding transcript	Het
Dnajc10	T	A	2: 80,175,290 (GRCm39)	V559D	possibly damaging	Het
Dock1	A	T	7: 134,739,874 (GRCm39)	E1423D	possibly damaging	Het
Dpf3	A	T	12: 83,319,179 (GRCm39)	S44T	probably damaging	Het
Dyrk3	A	T	1: 131,064,094 (GRCm39)	V31D	possibly damaging	Het
F5	T	C	1: 164,021,769 (GRCm39)	S1415P	probably benign	Het
Fam186b	A	C	15: 99,169,166 (GRCm39)	I927S	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fer1l6	G	A	15: 58,509,943 (GRCm39)		probably null	Het
Fndc7	G	T	3: 108,783,861 (GRCm39)	S249R	probably benign	Het
Ganab	A	G	19: 8,884,614 (GRCm39)	E139G	possibly damaging	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gm17324	T	A	9: 78,355,580 (GRCm39)	M1K	probably null	Het
Gtpbp6	T	A	5: 110,254,608 (GRCm39)	R126S	probably damaging	Het
Hapln4	G	A	8: 70,541,122 (GRCm39)	W385*	probably null	Het
Hmcn2	T	A	2: 31,305,296 (GRCm39)		probably null	Het
Hsp90ab1	A	G	17: 45,879,914 (GRCm39)	V534A	probably damaging	Het
Kat6b	C	A	14: 21,720,598 (GRCm39)	T1650K	probably damaging	Het
Kpna1	T	A	16: 35,823,275 (GRCm39)	D42E	probably benign	Het
Lrrc40	A	G	3: 157,760,201 (GRCm39)		probably null	Het
Ltv1	T	C	10: 13,067,887 (GRCm39)	T34A	probably benign	Het
Mga	T	A	2: 119,746,969 (GRCm39)	N373K	probably damaging	Het
Msh3	A	T	13: 92,357,505 (GRCm39)	M101K	probably damaging	Het
Mthfd2l	T	C	5: 91,168,065 (GRCm39)	M320T	possibly damaging	Het
Mug1	G	A	6: 121,838,514 (GRCm39)	E506K	probably benign	Het
Ngb	T	C	12: 87,147,503 (GRCm39)	D54G	probably damaging	Het
Ntrk1	A	G	3: 87,699,014 (GRCm39)	F84L	probably benign	Het
Or1j18	A	T	2: 36,624,545 (GRCm39)	I71F	probably benign	Het
Or52n2b	T	A	7: 104,566,180 (GRCm39)	T108S	probably benign	Het
Phf12	T	A	11: 77,908,994 (GRCm39)	I358N	possibly damaging	Het
Plec	A	G	15: 76,061,801 (GRCm39)	F2577S	probably damaging	Het
Polr1c	T	A	17: 46,558,689 (GRCm39)	Y36F	probably benign	Het
Prkd1	A	T	12: 50,413,155 (GRCm39)	M672K	probably damaging	Het
Prob1	T	C	18: 35,785,539 (GRCm39)	Y905C	probably damaging	Het
Ptpn23	T	A	9: 110,215,361 (GRCm39)	H1433L	possibly damaging	Het
Rnf11	A	T	4: 109,314,149 (GRCm39)	L80Q	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Scgb2b7	A	T	7: 31,403,437 (GRCm39)	C90S	possibly damaging	Het
Slc4a9	T	C	18: 36,668,471 (GRCm39)	L710P	probably damaging	Het
Spire1	T	A	18: 67,685,670 (GRCm39)	I35F	probably damaging	Het
Sptbn2	T	C	19: 4,795,966 (GRCm39)	V1715A	possibly damaging	Het
St7	T	C	6: 17,819,281 (GRCm39)	F62L	probably damaging	Het
Svep1	C	T	4: 58,118,136 (GRCm39)	G862D	probably damaging	Het
Syne1	A	T	10: 4,972,041 (GRCm39)	M8789K	probably damaging	Het
Synpo2	A	G	3: 122,906,421 (GRCm39)	L965P	probably damaging	Het
Trhde	A	T	10: 114,284,167 (GRCm39)	M772K	probably benign	Het
Ttn	T	A	2: 76,608,851 (GRCm39)	K15976*	probably null	Het
Unc13a	A	C	8: 72,110,645 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,851,318 (GRCm39)	E1214G	possibly damaging	Het
Vmn1r29	T	C	6: 58,285,072 (GRCm39)	V264A	probably benign	Het
Vmn1r60	T	A	7: 5,548,118 (GRCm39)		probably benign	Het
Wdr90	C	T	17: 26,079,459 (GRCm39)	R225H	probably benign	Het
Wnk1	G	A	6: 119,946,293 (GRCm39)	T620I	probably damaging	Het
Zan	C	T	5: 137,405,968 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,902 (GRCm39)	C387*	probably null	Het
Zfp521	T	C	18: 13,977,897 (GRCm39)	T839A	probably benign	Het

Other mutations in Lrrc14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Lrrc14b	APN	13	74,509,078 (GRCm39)	missense	probably damaging	0.97
IGL01521:Lrrc14b	APN	13	74,511,691 (GRCm39)	missense	probably damaging	1.00
IGL03156:Lrrc14b	APN	13	74,512,023 (GRCm39)	missense	probably benign
R1631:Lrrc14b	UTSW	13	74,509,373 (GRCm39)	splice site	probably null
R1741:Lrrc14b	UTSW	13	74,511,705 (GRCm39)	missense	probably damaging	1.00
R2042:Lrrc14b	UTSW	13	74,511,561 (GRCm39)	missense	probably benign	0.00
R2047:Lrrc14b	UTSW	13	74,511,561 (GRCm39)	missense	probably benign	0.00
R2149:Lrrc14b	UTSW	13	74,511,876 (GRCm39)	missense	possibly damaging	0.63
R3083:Lrrc14b	UTSW	13	74,511,337 (GRCm39)	missense	possibly damaging	0.63
R3838:Lrrc14b	UTSW	13	74,511,664 (GRCm39)	missense	possibly damaging	0.86
R3892:Lrrc14b	UTSW	13	74,511,787 (GRCm39)	missense	probably benign	0.00
R5748:Lrrc14b	UTSW	13	74,511,759 (GRCm39)	missense	probably damaging	1.00
R6508:Lrrc14b	UTSW	13	74,511,337 (GRCm39)	missense	possibly damaging	0.63
R6663:Lrrc14b	UTSW	13	74,509,480 (GRCm39)	missense	probably damaging	1.00
R6687:Lrrc14b	UTSW	13	74,508,881 (GRCm39)	missense	probably benign	0.00
R7309:Lrrc14b	UTSW	13	74,511,321 (GRCm39)	missense	probably benign	0.08
R7472:Lrrc14b	UTSW	13	74,511,226 (GRCm39)	missense	probably damaging	1.00
R7574:Lrrc14b	UTSW	13	74,508,892 (GRCm39)	missense	probably damaging	0.98
R7629:Lrrc14b	UTSW	13	74,509,283 (GRCm39)	missense	probably benign	0.03
R7695:Lrrc14b	UTSW	13	74,511,297 (GRCm39)	missense	possibly damaging	0.91
R8169:Lrrc14b	UTSW	13	74,511,286 (GRCm39)	missense	possibly damaging	0.56
R8824:Lrrc14b	UTSW	13	74,512,068 (GRCm39)	missense	probably damaging	1.00
R8852:Lrrc14b	UTSW	13	74,509,408 (GRCm39)	missense	probably damaging	1.00
R8860:Lrrc14b	UTSW	13	74,509,408 (GRCm39)	missense	probably damaging	1.00
R9010:Lrrc14b	UTSW	13	74,509,151 (GRCm39)	missense	possibly damaging	0.48
R9548:Lrrc14b	UTSW	13	74,511,996 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCTCGAAGATCCTCTGCAATCAC -3'
(R):5'- CTTAGCAGACTGTAACCACACTGCC -3'

Sequencing Primer
(F):5'- GGACACTGACAGTTCATCCTGAG -3'
(R):5'- CACACTGCCCACTTGGAG -3'

Posted On

2013-05-23