Mutagenetix > Incidental Mutation

Incidental Mutation 'R3432:Sec14l5'

266255

Institutional Source

Beutler Lab

Gene Symbol

Sec14l5

Ensembl Gene

ENSMUSG00000091712

Gene Name

SEC14-like lipid binding 5

Synonyms

MMRRC Submission

040650-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R3432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4964973-5005135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4996463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 470 (I470V)

Ref Sequence

ENSEMBL: ENSMUSP00000155164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165810] [ENSMUST00000230616]

AlphaFold

B2RXM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165810
AA Change: I470V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128063
Gene: ENSMUSG00000091712
AA Change: I470V

Domain	Start	End	E-Value	Type
Pfam:PRELI	17	173	4.2e-52	PFAM
CRAL_TRIO_N	263	288	1.05e-4	SMART
SEC14	306	479	1.59e-58	SMART
low complexity region	496	510	N/A	INTRINSIC
low complexity region	671	695	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230616
AA Change: I470V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1518

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	G	A	1: 125,321,776 (GRCm39)	P405S	probably damaging	Het
Adamts3	A	G	5: 89,855,312 (GRCm39)		probably benign	Het
Angptl2	T	C	2: 33,118,814 (GRCm39)	V196A	probably benign	Het
Aoc1	A	T	6: 48,882,778 (GRCm39)	H240L	probably damaging	Het
Arsj	A	T	3: 126,158,624 (GRCm39)	T68S	probably benign	Het
Atp8b3	T	C	10: 80,362,014 (GRCm39)	K708E	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Ceacam5	T	A	7: 17,448,901 (GRCm39)	V89E	probably benign	Het
Cpt1b	T	C	15: 89,307,944 (GRCm39)	E205G	possibly damaging	Het
Dhrs7c	C	T	11: 67,700,699 (GRCm39)	T82I	probably benign	Het
Efs	C	T	14: 55,157,681 (GRCm39)	R117Q	probably damaging	Het
Evl	T	C	12: 108,614,567 (GRCm39)		probably benign	Het
Fam89b	A	T	19: 5,781,761 (GRCm39)		probably null	Het
Fbxo16	T	C	14: 65,531,233 (GRCm39)	F46L	probably damaging	Het
Glp1r	T	A	17: 31,143,531 (GRCm39)	L189H	probably damaging	Het
Gstp1	G	A	19: 4,086,695 (GRCm39)	T110I	possibly damaging	Het
Hbq1a	T	G	11: 32,250,715 (GRCm39)	S133A	probably benign	Het
Hhipl1	A	G	12: 108,277,948 (GRCm39)	E92G	probably damaging	Het
Il18r1	C	T	1: 40,526,249 (GRCm39)	T265M	probably damaging	Het
Lpp	T	C	16: 24,708,636 (GRCm39)	V447A	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mmel1	C	T	4: 154,969,955 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,170,283 (GRCm39)	E471G	probably damaging	Het
Obscn	A	G	11: 58,922,003 (GRCm39)	L317P	probably damaging	Het
Or8b57	A	T	9: 40,003,845 (GRCm39)	M139K	probably damaging	Het
Psg18	A	G	7: 18,083,096 (GRCm39)	V232A	possibly damaging	Het
Ptprt	T	C	2: 161,769,449 (GRCm39)	E472G	probably damaging	Het
Rap2a	G	T	14: 120,741,170 (GRCm39)	A158S	possibly damaging	Het
Rbm15	A	T	3: 107,237,993 (GRCm39)	S802T	probably benign	Het
Serpinb1a	T	C	13: 33,026,842 (GRCm39)	T367A	possibly damaging	Het
Sirpb1a	A	G	3: 15,491,447 (GRCm39)	W7R	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Taf5	A	C	19: 47,064,272 (GRCm39)	K405T	probably damaging	Het
Tbc1d19	T	C	5: 54,005,548 (GRCm39)		probably benign	Het
Trim58	T	C	11: 58,537,787 (GRCm39)		probably benign	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Uggt1	C	A	1: 36,249,140 (GRCm39)	E267*	probably null	Het
Zdhhc23	T	A	16: 43,794,533 (GRCm39)		probably benign	Het
Zfp407	G	A	18: 84,226,871 (GRCm39)	A2246V	probably damaging	Het
Zfp872	C	T	9: 22,111,750 (GRCm39)	R410*	probably null	Het

Other mutations in Sec14l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01771:Sec14l5	APN	16	4,996,494 (GRCm39)	critical splice donor site	probably null
R0226:Sec14l5	UTSW	16	4,998,167 (GRCm39)	missense	probably benign	0.18
R0333:Sec14l5	UTSW	16	4,984,930 (GRCm39)	missense	probably damaging	1.00
R0370:Sec14l5	UTSW	16	4,998,570 (GRCm39)	missense	probably damaging	1.00
R0581:Sec14l5	UTSW	16	4,996,349 (GRCm39)	splice site	probably null
R2109:Sec14l5	UTSW	16	4,984,968 (GRCm39)	nonsense	probably null
R2230:Sec14l5	UTSW	16	4,994,345 (GRCm39)	missense	probably damaging	1.00
R2944:Sec14l5	UTSW	16	4,998,697 (GRCm39)	missense	probably benign	0.05
R3001:Sec14l5	UTSW	16	4,989,746 (GRCm39)	missense	probably damaging	1.00
R3002:Sec14l5	UTSW	16	4,989,746 (GRCm39)	missense	probably damaging	1.00
R3409:Sec14l5	UTSW	16	4,983,518 (GRCm39)	splice site	probably null
R3913:Sec14l5	UTSW	16	4,965,720 (GRCm39)	splice site	probably benign
R4941:Sec14l5	UTSW	16	4,994,364 (GRCm39)	missense	probably damaging	1.00
R5468:Sec14l5	UTSW	16	4,985,004 (GRCm39)	splice site	probably null
R5474:Sec14l5	UTSW	16	4,996,382 (GRCm39)	missense	possibly damaging	0.74
R5871:Sec14l5	UTSW	16	4,986,717 (GRCm39)	missense	probably benign	0.00
R6226:Sec14l5	UTSW	16	4,994,429 (GRCm39)	missense	probably damaging	0.99
R6315:Sec14l5	UTSW	16	4,998,141 (GRCm39)	missense	possibly damaging	0.81
R6333:Sec14l5	UTSW	16	4,984,908 (GRCm39)	missense	probably benign	0.00
R6360:Sec14l5	UTSW	16	4,990,859 (GRCm39)	missense	probably damaging	0.99
R7426:Sec14l5	UTSW	16	4,998,739 (GRCm39)	missense	probably damaging	1.00
R8905:Sec14l5	UTSW	16	4,994,364 (GRCm39)	missense	probably damaging	1.00
X0064:Sec14l5	UTSW	16	4,993,966 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCCAAGAAAGTGTCTG -3'
(R):5'- ACTGCCTTTGGTTCACCTCAAG -3'

Sequencing Primer
(F):5'- GCCAAGAAAGTGTCTGATTCTCTGC -3'
(R):5'- TGGTTCACCTCAAGAGATGTCAC -3'

Posted On

2015-02-18