Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Lrrc14b'

567458

Institutional Source

Beutler Lab

Gene Symbol

Lrrc14b

Ensembl Gene

ENSMUSG00000021579

Gene Name

leucine rich repeat containing 14B

Synonyms

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74507701-74512119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74511321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 253 (C253F)

Ref Sequence

ENSEMBL: ENSMUSP00000022064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022063] [ENSMUST00000022064] [ENSMUST00000159931] [ENSMUST00000160021] [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: C253F

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579
AA Change: C253F

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: ENSMUST00000162672

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Esf1	A	T	2: 139,967,011 (GRCm39)		probably null	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Hnrnpdl	A	T	5: 100,185,482 (GRCm39)	L240*	probably null	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Kcnj9	A	G	1: 172,153,825 (GRCm39)	C100R	probably damaging	Het
Map3k11	T	C	19: 5,740,486 (GRCm39)	V71A	probably damaging	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,835,070 (GRCm39)		probably benign	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or4c3d	T	A	2: 89,881,801 (GRCm39)	N289I	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr93	T	A	7: 79,423,103 (GRCm39)	F456I	possibly damaging	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	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
R0457:Lrrc14b	UTSW	13	74,509,279 (GRCm39)	missense	probably benign	0.41
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
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'- CACATTCCCAGAGAACATTGTG -3'
(R):5'- GGCAGCTCCTACAAGTTCTTG -3'

Sequencing Primer
(F):5'- AGTGACTCCAGAATACTTTACCAGG -3'
(R):5'- ACAAGTTCTTGGCCTGGC -3'

Posted On

2019-06-26