Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Sec14l5'

513091

Institutional Source

Beutler Lab

Gene Symbol

Sec14l5

Ensembl Gene

ENSMUSG00000091712

Gene Name

SEC14-like lipid binding 5

Synonyms

MMRRC Submission

044510-MU

Accession Numbers

Essential gene?

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

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4964973-5005135 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4990859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 267 (I267F)

Ref Sequence

ENSEMBL: ENSMUSP00000155164 (fasta)

Gene Model

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

AlphaFold

B2RXM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000165810
AA Change: I267F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128063
Gene: ENSMUSG00000091712
AA Change: I267F

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 damaging
Transcript: ENSMUST00000230616
AA Change: I267F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,985,831 (GRCm39)	Q657*	probably null	Het
Car15	T	C	16: 17,655,930 (GRCm39)	T560A	probably benign	Het
Cass4	C	T	2: 172,274,531 (GRCm39)	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,546 (GRCm39)	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,415,388 (GRCm39)	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,359,461 (GRCm39)	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Dab2ip	A	G	2: 35,600,278 (GRCm39)	H355R	probably benign	Het
Dennd2a	C	T	6: 39,470,076 (GRCm39)	A539T	probably benign	Het
Dnajc18	T	C	18: 35,819,762 (GRCm39)	E173G	probably damaging	Het
Dock7	T	C	4: 98,857,899 (GRCm39)	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931 (GRCm39)	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619 (GRCm38)	H73P	probably damaging	Het
Flg	A	G	3: 93,197,908 (GRCm39)		probably benign	Het
Fyn	C	A	10: 39,402,879 (GRCm39)	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,231,596 (GRCm39)	D330G	probably benign	Het
Gin1	T	C	1: 97,720,264 (GRCm39)	S509P	possibly damaging	Het
Gm17067	A	C	7: 42,357,906 (GRCm39)	S199A	probably benign	Het
Grk4	A	T	5: 34,831,881 (GRCm39)	K50M	probably damaging	Het
Inpp4b	A	G	8: 82,629,481 (GRCm39)	H272R	probably benign	Het
Ipo7	T	A	7: 109,626,336 (GRCm39)	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,756,191 (GRCm39)	I515T	probably damaging	Het
Kcnu1	T	A	8: 26,351,208 (GRCm39)	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,064,096 (GRCm39)	N336S	probably benign	Het
Lbr	G	T	1: 181,659,720 (GRCm39)	D158E	probably benign	Het
Mphosph10	T	C	7: 64,039,703 (GRCm39)	Q89R	probably benign	Het
Nectin3	T	A	16: 46,231,472 (GRCm39)	T21S	probably benign	Het
Numb	C	A	12: 83,844,036 (GRCm39)	R383L	probably damaging	Het
Or2p2	A	T	13: 21,256,753 (GRCm39)	N239K	probably damaging	Het
Or9a7	G	T	6: 40,521,647 (GRCm39)	Q89K	possibly damaging	Het
Pcdhb11	A	T	18: 37,555,212 (GRCm39)	I181F	probably benign	Het
Pcgf2	T	A	11: 97,583,235 (GRCm39)		probably null	Het
Pdzd8	T	C	19: 59,289,415 (GRCm39)	T662A	probably benign	Het
Pex13	A	C	11: 23,605,690 (GRCm39)	V180G	probably benign	Het
Pira1	A	T	7: 3,739,503 (GRCm39)	L455Q	probably damaging	Het
Pkp4	T	A	2: 59,045,091 (GRCm39)	V22D	probably benign	Het
Prkn	T	C	17: 12,222,939 (GRCm39)	F363S	probably damaging	Het
Prpf4b	A	C	13: 35,085,416 (GRCm39)	D954A	probably damaging	Het
Rfx8	T	C	1: 39,720,125 (GRCm39)	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,598,868 (GRCm39)	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778 (GRCm39)	C453S	possibly damaging	Het
Saxo4	T	C	19: 10,456,845 (GRCm39)	N167D	probably damaging	Het
Scarf1	G	T	11: 75,406,495 (GRCm39)	G260W	probably damaging	Het
Scyl1	T	C	19: 5,810,599 (GRCm39)	E538G	probably damaging	Het
Senp6	T	A	9: 80,021,088 (GRCm39)	V256D	probably benign	Het
Sf3b4	G	A	3: 96,084,044 (GRCm39)		probably benign	Het
Ssh1	T	C	5: 114,099,408 (GRCm39)		probably null	Het
Tas2r143	A	C	6: 42,377,769 (GRCm39)	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,098,830 (GRCm39)	P19S	probably damaging	Het
Tent5b	T	C	4: 133,214,067 (GRCm39)	F313L	probably damaging	Het
Tmc5	T	A	7: 118,233,189 (GRCm39)	M1K	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,468,866 (GRCm39)	E285G	probably damaging	Het
Txndc11	C	T	16: 10,902,656 (GRCm39)	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,553,908 (GRCm39)	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476 (GRCm39)	I369L	probably benign	Het
Vwf	A	T	6: 125,660,489 (GRCm39)	T2666S	probably benign	Het
Yif1a	A	G	19: 5,142,369 (GRCm39)	M259V	probably benign	Het
Zbtb46	T	C	2: 181,033,248 (GRCm39)	D471G	probably damaging	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
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
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'- CTGGGTTTGCACCAATGGTC -3'
(R):5'- CGCACCTATATCCTGGTAGTGC -3'

Sequencing Primer
(F):5'- TGCACCAATGGTCTATTAGGAG -3'
(R):5'- TGGTAGTGCCAGCCTCCAG -3'

Posted On

2018-04-27