Mutagenetix > Incidental Mutation

Incidental Mutation 'R2266:Sec14l1'

242056

Institutional Source

Beutler Lab

Gene Symbol

Sec14l1

Ensembl Gene

ENSMUSG00000020823

Gene Name

SEC14-like lipid binding 1

Synonyms

2810012L19Rik, 1200017E04Rik

MMRRC Submission

040266-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117005994-117050094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117047314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 664 (H664L)

Ref Sequence

ENSEMBL: ENSMUSP00000099315 (fasta)

Gene Model

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

AlphaFold

A8Y5H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021177
AA Change: H664L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: H664L

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 damaging
Transcript: ENSMUST00000090433
AA Change: H664L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: H664L

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 damaging
Transcript: ENSMUST00000103026
AA Change: H664L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: H664L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153437

Meta Mutation Damage Score

0.8194

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bsn	T	A	9: 107,992,323 (GRCm39)	D1143V	probably damaging	Het
Cacna2d2	T	C	9: 107,390,479 (GRCm39)	V317A	probably damaging	Het
Cdh1	G	A	8: 107,388,635 (GRCm39)	V564I	probably benign	Het
Cep250	T	C	2: 155,818,090 (GRCm39)	V814A	probably benign	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyb561d1	A	T	3: 108,106,720 (GRCm39)	H166Q	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,855,540 (GRCm39)		probably benign	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Ecpas	A	T	4: 58,830,332 (GRCm39)		probably null	Het
Eid1	A	G	2: 125,515,344 (GRCm39)	D78G	possibly damaging	Het
Emid1	T	A	11: 5,094,331 (GRCm39)	Q60L	probably damaging	Het
Fam135a	A	T	1: 24,067,878 (GRCm39)	V801E	probably benign	Het
Foxh1	A	G	15: 76,552,820 (GRCm39)	V298A	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klra10	A	G	6: 130,246,264 (GRCm39)	V237A	probably benign	Het
Klre1	A	G	6: 129,562,593 (GRCm39)	K206R	probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Med23	T	G	10: 24,750,499 (GRCm39)	S109A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Naip6	A	G	13: 100,420,067 (GRCm39)	V1401A	possibly damaging	Het
Ncapg2	A	G	12: 116,393,296 (GRCm39)	E500G	probably damaging	Het
Nlrp12	T	C	7: 3,282,575 (GRCm39)	I775V	probably benign	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Polq	C	A	16: 36,882,515 (GRCm39)	Q1560K	possibly damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Ptprm	A	T	17: 67,032,846 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,152,011 (GRCm39)	S183T	possibly damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rttn	A	G	18: 89,082,295 (GRCm39)	N1407S	probably benign	Het
Slc10a7	G	A	8: 79,236,264 (GRCm39)	G21S	probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spesp1	A	T	9: 62,180,834 (GRCm39)	L25M	probably damaging	Het
St6galnac1	G	A	11: 116,658,673 (GRCm39)	Q264*	probably null	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tnfsf13b	A	T	8: 10,057,306 (GRCm39)	R125S	probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vmn1r38	G	T	6: 66,753,433 (GRCm39)	Q228K	probably benign	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Xrn1	A	G	9: 95,888,765 (GRCm39)	D948G	possibly damaging	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zfp418	G	A	7: 7,185,807 (GRCm39)	R590K	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
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
R8307:Sec14l1	UTSW	11	117,034,242 (GRCm39)	critical splice donor site	probably null
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'- CATTAGGCTGTTGGCTCAGG -3'
(R):5'- GGCCCTTGTAAAGTTGGGACAG -3'

Sequencing Primer
(F):5'- TGTTGGCTCAGGACACCC -3'
(R):5'- CAATGGAGGAATCCGTAGTTTGCC -3'

Posted On

2014-10-16