Mutagenetix > Incidental Mutation

Incidental Mutation 'R5871:Sec14l5'

455208

Institutional Source

Beutler Lab

Gene Symbol

Sec14l5

Ensembl Gene

ENSMUSG00000091712

Gene Name

SEC14-like lipid binding 5

Synonyms

MMRRC Submission

043234-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5871 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

4964973-5005135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4986717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 168 (N168K)

Ref Sequence

ENSEMBL: ENSMUSP00000155164 (fasta)

Gene Model

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

AlphaFold

B2RXM5

Predicted Effect

probably benign
Transcript: ENSMUST00000165810
AA Change: N168K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128063
Gene: ENSMUSG00000091712
AA Change: N168K

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

probably benign
Transcript: ENSMUST00000230616
AA Change: N168K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	T	1: 173,159,640 (GRCm39)	L293Q	probably damaging	Het
Ankrd13d	A	G	19: 4,332,022 (GRCm39)	V92A	possibly damaging	Het
Anxa5	T	A	3: 36,506,398 (GRCm39)	Q218L	possibly damaging	Het
Bend6	T	C	1: 33,902,946 (GRCm39)	M135V	probably damaging	Het
Ccr5	T	C	9: 123,924,558 (GRCm39)	F54L	probably benign	Het
Chrng	T	C	1: 87,134,451 (GRCm39)	V164A	possibly damaging	Het
Clca3a1	T	G	3: 144,460,642 (GRCm39)	S271R	probably damaging	Het
Csmd3	G	A	15: 47,752,112 (GRCm39)	T1282I	probably damaging	Het
Dock10	C	A	1: 80,519,057 (GRCm39)		probably null	Het
Esrrb	A	G	12: 86,552,661 (GRCm39)	Y196C	probably benign	Het
Fam76a	T	C	4: 132,631,321 (GRCm39)	D208G	probably damaging	Het
Fancd2	A	G	6: 113,533,243 (GRCm39)	E520G	probably benign	Het
Fgf9	A	T	14: 58,320,656 (GRCm39)		probably null	Het
Gatb	T	A	3: 85,561,083 (GRCm39)	L533*	probably null	Het
Igsf10	G	T	3: 59,237,832 (GRCm39)	A783D	possibly damaging	Het
Ldlrap1	A	G	4: 134,486,240 (GRCm39)	I73T	probably damaging	Het
Lrrc37	T	C	11: 103,507,280 (GRCm39)		probably benign	Het
Msr1	G	A	8: 40,064,693 (GRCm39)	P327L	probably damaging	Het
Myo18a	T	C	11: 77,723,306 (GRCm39)	Y823H	probably damaging	Het
Ncapg	A	G	5: 45,853,039 (GRCm39)	E835G	probably damaging	Het
Nfam1	A	G	15: 82,900,623 (GRCm39)	S120P	probably damaging	Het
Or4k44	A	G	2: 111,367,984 (GRCm39)	S217P	probably damaging	Het
Or56a3	T	C	7: 104,735,511 (GRCm39)	V196A	possibly damaging	Het
Or8b49	T	A	9: 38,505,628 (GRCm39)	I37K	possibly damaging	Het
Or9m2	T	C	2: 87,821,355 (GRCm39)	F300S	possibly damaging	Het
Phtf2	A	G	5: 20,999,399 (GRCm39)	V248A	probably benign	Het
Pik3r3	G	T	4: 116,143,355 (GRCm39)	E283*	probably null	Het
Plcg2	T	A	8: 118,230,956 (GRCm39)	Y13N	probably damaging	Het
Pth2r	C	T	1: 65,427,796 (GRCm39)	P490S	probably damaging	Het
Rnf40	T	A	7: 127,190,757 (GRCm39)	M275K	probably damaging	Het
Rpgrip1l	T	C	8: 91,948,014 (GRCm39)	E1223G	possibly damaging	Het
Siglecf	T	C	7: 43,005,045 (GRCm39)	V425A	probably benign	Het
Sorbs1	A	G	19: 40,387,027 (GRCm39)	V13A	probably damaging	Het
Svil	T	A	18: 5,103,669 (GRCm39)		probably null	Het
Tbrg1	A	G	9: 37,562,278 (GRCm39)	I300T	probably damaging	Het
Tnni3k	T	A	3: 154,736,007 (GRCm39)	D112V	probably benign	Het
Ubxn1	A	G	19: 8,851,576 (GRCm39)	Q203R	probably benign	Het
Ugt1a7c	A	G	1: 88,023,381 (GRCm39)	D180G	possibly damaging	Het
Usp14	A	G	18: 9,996,234 (GRCm39)	F449L	probably benign	Het
Wwc2	A	G	8: 48,321,458 (GRCm39)	L552P	unknown	Het
Zscan10	A	G	17: 23,826,241 (GRCm39)		probably benign	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
R3432:Sec14l5	UTSW	16	4,996,463 (GRCm39)	missense	possibly damaging	0.55
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
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'- CCCGATGCTTTACCAATGTGAAG -3'
(R):5'- CAGACCTACCATCCGCTATG -3'

Sequencing Primer
(F):5'- TGTGAAGCTAAGCTCACTGC -3'
(R):5'- CTATGGCCATCTCAGAAGCAGG -3'

Posted On

2017-02-10