Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Lrrc14b'

172811

Institutional Source

Beutler Lab

Gene Symbol

Lrrc14b

Ensembl Gene

ENSMUSG00000021579

Gene Name

leucine rich repeat containing 14B

Synonyms

MMRRC Submission

039668-MU

Accession Numbers

Essential gene?

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

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74507701-74512119 bp(-) (GRCm39)

Type of Mutation

splice site (169 bp from exon)

DNA Base Change (assembly)

A to G at 74509373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125027 (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 damaging
Transcript: ENSMUST00000022064
AA Change: S345P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579
AA Change: S345P

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 null
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 null
Transcript: ENSMUST00000162672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223491

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,756,316 (GRCm39)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Als2	T	C	1: 59,257,226 (GRCm39)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,997,157 (GRCm39)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,906,395 (GRCm39)		probably null	Het
Avil	A	G	10: 126,846,494 (GRCm39)		probably null	Het
C2cd3	G	A	7: 100,021,704 (GRCm39)		probably null	Het
Cdhr18	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Col18a1	G	A	10: 76,895,131 (GRCm39)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,462,213 (GRCm39)	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,923 (GRCm39)	E138G	probably damaging	Het
Ctsm	T	C	13: 61,686,249 (GRCm39)	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,174,578 (GRCm39)	Q967R	possibly damaging	Het
Dok2	T	C	14: 71,014,393 (GRCm39)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,554,592 (GRCm39)	M1I	probably null	Het
Fkbp8	T	A	8: 70,984,282 (GRCm39)	L210Q	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,868,505 (GRCm39)	D243E	probably damaging	Het
Gm5422	A	G	10: 31,125,802 (GRCm39)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm39)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,529,393 (GRCm39)	V79G	probably damaging	Het
Htr6	A	T	4: 138,788,804 (GRCm39)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,188,755 (GRCm39)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,443,102 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,081,788 (GRCm39)	F182L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama3	A	G	18: 12,540,551 (GRCm39)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,034,680 (GRCm39)	V108L	possibly damaging	Het
Magi3	T	C	3: 103,958,493 (GRCm39)	T531A	probably benign	Het
Mapre2	A	G	18: 23,966,011 (GRCm39)	Y32C	probably damaging	Het
Med1	C	T	11: 98,046,452 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nt5el	C	A	13: 105,218,749 (GRCm39)	Q28K	probably benign	Het
Or10a3b	A	C	7: 108,445,064 (GRCm39)	L51R	probably damaging	Het
Or51h1	A	G	7: 102,308,408 (GRCm39)	I127V	probably damaging	Het
Or5h23	G	A	16: 58,906,408 (GRCm39)	T146I	probably benign	Het
Or7a35	A	T	10: 78,853,239 (GRCm39)	I28L	probably benign	Het
Pde1b	A	G	15: 103,430,099 (GRCm39)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,593,121 (GRCm39)	D1664G	probably benign	Het
Plod3	C	T	5: 137,017,847 (GRCm39)	R208W	probably damaging	Het
Pstk	G	A	7: 130,986,271 (GRCm39)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,411,684 (GRCm39)	V403A	probably damaging	Het
Rad21	C	A	15: 51,833,436 (GRCm39)	V348F	probably damaging	Het
Sacs	T	A	14: 61,448,181 (GRCm39)	L3409*	probably null	Het
Setd4	T	A	16: 93,390,136 (GRCm39)	K98*	probably null	Het
Skint5	A	G	4: 113,341,123 (GRCm39)	V1385A	probably benign	Het
Stam	C	A	2: 14,151,059 (GRCm39)	S472*	probably null	Het
Stx2	A	G	5: 129,069,289 (GRCm39)	F141L	probably damaging	Het
Tia1	A	G	6: 86,397,330 (GRCm39)	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,783,228 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,410,651 (GRCm39)	N2700K	probably damaging	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
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'- GCACAGCCTCTTACAGCACGATTC -3'
(R):5'- TGTGATGTTTTGCCTACCTCACAGC -3'

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

Posted On

2014-04-24