Mutagenetix > Incidental Mutation

Incidental Mutation 'R8307:Sec14l1'

641152

Institutional Source

Beutler Lab

Gene Symbol

Sec14l1

Ensembl Gene

ENSMUSG00000020823

Gene Name

SEC14-like lipid binding 1

Synonyms

2810012L19Rik, 1200017E04Rik

MMRRC Submission

067717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117005994-117050094 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 117034242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021177] [ENSMUST00000090433] [ENSMUST00000103026]

AlphaFold

A8Y5H7

Predicted Effect

probably null
Transcript: ENSMUST00000021177

SMART Domains

Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823

Domain	Start	End	E-Value	Type
Pfam:PRELI	17	173	5.3e-57	PFAM
CRAL_TRIO_N	276	301	4.83e-4	SMART
SEC14	319	492	5.13e-53	SMART
low complexity region	695	711	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090433

SMART Domains

Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823

Domain	Start	End	E-Value	Type
Pfam:PRELI	17	173	7.9e-57	PFAM
CRAL_TRIO_N	276	301	4.83e-4	SMART
SEC14	319	492	5.13e-53	SMART
low complexity region	695	711	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103026

SMART Domains

Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823

Domain	Start	End	E-Value	Type
Pfam:PRELI	17	173	5.4e-57	PFAM
CRAL_TRIO_N	276	301	4.83e-4	SMART
SEC14	319	492	5.13e-53	SMART
low complexity region	695	715	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	A	4: 148,025,837 (GRCm39)	T119K	probably benign	Het
Abca13	T	A	11: 9,227,922 (GRCm39)	L655*	probably null	Het
Aifm2	A	G	10: 61,562,171 (GRCm39)	Y69C	probably damaging	Het
Atp2c1	C	T	9: 105,320,030 (GRCm39)	V448I	probably benign	Het
Barx2	A	G	9: 31,770,307 (GRCm39)	S74P	probably damaging	Het
Bod1l	T	C	5: 41,978,498 (GRCm39)	K939E	probably damaging	Het
Cdh12	C	A	15: 21,358,949 (GRCm39)	F124L	probably benign	Het
Cdh12	T	A	15: 21,358,950 (GRCm39)	Y125N	probably damaging	Het
Cdx2	A	G	5: 147,243,477 (GRCm39)	Y106H	possibly damaging	Het
Chmp1a	C	T	8: 123,932,980 (GRCm39)	G158S	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cntnap1	A	T	11: 101,079,702 (GRCm39)	Y1277F	possibly damaging	Het
Csde1	A	G	3: 102,946,389 (GRCm39)		probably benign	Het
Dennd4c	A	C	4: 86,744,109 (GRCm39)	D1317A	probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock2	A	T	11: 34,260,362 (GRCm39)	M993K	possibly damaging	Het
Dpy19l1	G	A	9: 24,414,297 (GRCm39)	P44S	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Epg5	T	A	18: 78,065,894 (GRCm39)	F2078Y	probably damaging	Het
Fancl	A	G	11: 26,349,642 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,347,402 (GRCm39)	R41L	possibly damaging	Het
Gemin5	G	A	11: 58,042,420 (GRCm39)	T467M	probably damaging	Het
Hexb	T	C	13: 97,330,707 (GRCm39)	Q102R	probably benign	Het
Hmcn2	A	G	2: 31,286,127 (GRCm39)	D2093G	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Igkv1-131	A	G	6: 67,743,051 (GRCm39)	Y111H	probably damaging	Het
Il6st	G	T	13: 112,624,281 (GRCm39)	G177V	probably benign	Het
Kank4	G	A	4: 98,666,915 (GRCm39)	Q511*	probably null	Het
Krt90	A	G	15: 101,467,634 (GRCm39)	L248P	probably damaging	Het
Krtap5-2	A	G	7: 141,728,586 (GRCm39)	C187R	unknown	Het
Lonp1	C	A	17: 56,933,573 (GRCm39)	A101S	probably benign	Het
Nckap5l	A	G	15: 99,321,058 (GRCm39)	C1241R	probably damaging	Het
Or1j11	A	G	2: 36,312,333 (GRCm39)	T308A	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or6c203	T	C	10: 129,010,101 (GRCm39)	D263G	probably benign	Het
Pcdh15	T	A	10: 74,342,307 (GRCm39)	C1131*	probably null	Het
Pcdhgc3	A	G	18: 37,940,847 (GRCm39)	D416G	probably damaging	Het
Pikfyve	T	C	1: 65,284,894 (GRCm39)	M786T	possibly damaging	Het
Pink1	A	T	4: 138,045,273 (GRCm39)	M297K	probably benign	Het
Pln	T	C	10: 53,219,975 (GRCm39)	Y6H	unknown	Het
Ppp2r2c	A	G	5: 37,104,430 (GRCm39)	D270G	probably damaging	Het
Pramel58	T	G	5: 94,831,416 (GRCm39)	L141R	probably damaging	Het
Prcd	A	T	11: 116,550,199 (GRCm39)	T76S	possibly damaging	Het
Pxylp1	A	G	9: 96,721,137 (GRCm39)		probably null	Het
Rab11fip4	A	T	11: 79,581,600 (GRCm39)	N532Y	possibly damaging	Het
Ralgapa1	C	A	12: 55,788,308 (GRCm39)	V592L	probably damaging	Het
Robo2	T	C	16: 73,753,498 (GRCm39)	D793G	probably damaging	Het
Srcap	T	A	7: 127,124,541 (GRCm39)	V237E	probably damaging	Het
Srl	A	G	16: 4,315,009 (GRCm39)	I211T	probably benign	Het
Tasor	G	T	14: 27,193,622 (GRCm39)	A941S	probably damaging	Het
Tet3	A	G	6: 83,356,909 (GRCm39)	V883A	probably damaging	Het
Trim46	A	G	3: 89,151,223 (GRCm39)	Y113H	probably benign	Het
Trim58	G	A	11: 58,537,909 (GRCm39)	A267T	probably benign	Het
Tsks	G	A	7: 44,607,086 (GRCm39)	G140S		Het
Vmn2r110	C	A	17: 20,803,319 (GRCm39)	V419L	probably benign	Het
Vmn2r66	A	G	7: 84,656,270 (GRCm39)	F249L	probably benign	Het
Vps8	A	C	16: 21,314,652 (GRCm39)	D584A	probably benign	Het
Zfp605	T	A	5: 110,276,063 (GRCm39)	C394S	probably damaging	Het
Zscan4e	A	G	7: 11,041,059 (GRCm39)	I271T	probably benign	Het

Other mutations in Sec14l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Sec14l1	APN	11	117,044,055 (GRCm39)	missense	possibly damaging	0.95
IGL01559:Sec14l1	APN	11	117,034,110 (GRCm39)	splice site	probably null
IGL02053:Sec14l1	APN	11	117,047,738 (GRCm39)	splice site	probably benign
IGL02355:Sec14l1	APN	11	117,035,675 (GRCm39)	missense	possibly damaging	0.50
IGL02362:Sec14l1	APN	11	117,035,675 (GRCm39)	missense	possibly damaging	0.50
IGL02956:Sec14l1	APN	11	117,043,973 (GRCm39)	missense	probably benign
PIT1430001:Sec14l1	UTSW	11	117,034,629 (GRCm39)	missense	probably damaging	1.00
R0010:Sec14l1	UTSW	11	117,034,596 (GRCm39)	splice site	probably benign
R0130:Sec14l1	UTSW	11	117,047,233 (GRCm39)	missense	possibly damaging	0.93
R0241:Sec14l1	UTSW	11	117,037,924 (GRCm39)	splice site	probably benign
R0321:Sec14l1	UTSW	11	117,041,568 (GRCm39)	splice site	probably benign
R0377:Sec14l1	UTSW	11	117,039,966 (GRCm39)	splice site	probably benign
R1600:Sec14l1	UTSW	11	117,041,430 (GRCm39)	missense	probably benign	0.34
R2120:Sec14l1	UTSW	11	117,039,358 (GRCm39)	splice site	probably benign
R2163:Sec14l1	UTSW	11	117,034,108 (GRCm39)	splice site	probably null
R2266:Sec14l1	UTSW	11	117,047,314 (GRCm39)	missense	probably damaging	0.98
R4059:Sec14l1	UTSW	11	117,040,024 (GRCm39)	missense	possibly damaging	0.51
R6501:Sec14l1	UTSW	11	117,047,676 (GRCm39)	missense	probably damaging	0.97
R6900:Sec14l1	UTSW	11	117,008,049 (GRCm39)	missense	probably damaging	0.98
R6989:Sec14l1	UTSW	11	117,047,220 (GRCm39)	missense	probably damaging	0.99
R9258:Sec14l1	UTSW	11	117,041,002 (GRCm39)	missense	probably benign	0.25
R9598:Sec14l1	UTSW	11	117,044,102 (GRCm39)	missense	probably damaging	1.00
R9670:Sec14l1	UTSW	11	117,046,058 (GRCm39)	missense	possibly damaging	0.55
X0066:Sec14l1	UTSW	11	117,034,769 (GRCm39)	missense	probably benign
X0067:Sec14l1	UTSW	11	117,007,994 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AACATCTCTCCTCTGGGTGC -3'
(R):5'- TGACACGGCACACACTTGTAAC -3'

Sequencing Primer
(F):5'- CACAGGCAAGTTGTGTCTCCATG -3'
(R):5'- CACTTGTAACCCTAATGCTTGGGAG -3'

Posted On

2020-07-28