Mutagenetix > Incidental Mutation

Incidental Mutation 'R4059:Sec14l1'

314401

Institutional Source

Beutler Lab

Gene Symbol

Sec14l1

Ensembl Gene

ENSMUSG00000020823

Gene Name

SEC14-like lipid binding 1

Synonyms

2810012L19Rik, 1200017E04Rik

MMRRC Submission

040970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117005994-117050094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117040024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 384 (V384D)

Ref Sequence

ENSEMBL: ENSMUSP00000099315 (fasta)

Gene Model

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

AlphaFold

A8Y5H7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021177
AA Change: V384D

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021177
Gene: ENSMUSG00000020823
AA Change: V384D

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

possibly damaging
Transcript: ENSMUST00000090433
AA Change: V384D

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087916
Gene: ENSMUSG00000020823
AA Change: V384D

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

possibly damaging
Transcript: ENSMUST00000103026
AA Change: V384D

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099315
Gene: ENSMUSG00000020823
AA Change: V384D

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

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,821 (GRCm39)	V301A	probably benign	Het
Agbl3	T	C	6: 34,823,834 (GRCm39)	L833P	probably damaging	Het
Amph	T	C	13: 19,326,168 (GRCm39)	S633P	probably damaging	Het
Aspscr1	T	C	11: 120,577,505 (GRCm39)	V60A	probably benign	Het
Atp13a3	C	A	16: 30,173,064 (GRCm39)	C271F	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
BC051019	C	T	7: 109,317,202 (GRCm39)	W163*	probably null	Het
Capza1	T	C	3: 104,732,427 (GRCm39)	E245G	probably damaging	Het
Cd81	G	T	7: 142,619,030 (GRCm39)	C18F	probably damaging	Het
Cfap45	G	T	1: 172,366,056 (GRCm39)	R303L	probably benign	Het
Commd9	T	C	2: 101,725,499 (GRCm39)	V24A	possibly damaging	Het
Dennd4a	A	G	9: 64,819,174 (GRCm39)	N1742D	possibly damaging	Het
Dgat1	G	T	15: 76,388,371 (GRCm39)	A182D	possibly damaging	Het
Dlg4	T	C	11: 69,917,909 (GRCm39)	L64P	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Epb41l4b	C	T	4: 57,024,337 (GRCm39)		probably null	Het
Fam13c	T	C	10: 70,390,338 (GRCm39)	L533P	probably damaging	Het
Fjx1	T	C	2: 102,281,066 (GRCm39)	T290A	possibly damaging	Het
Hid1	C	T	11: 115,247,565 (GRCm39)	E278K	probably damaging	Het
Hsd3b7	T	C	7: 127,400,717 (GRCm39)	I57T	probably damaging	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Itgae	A	G	11: 73,002,960 (GRCm39)	K175E	probably benign	Het
Klhl32	T	C	4: 24,792,781 (GRCm39)	T14A	probably damaging	Het
Krt23	T	C	11: 99,376,614 (GRCm39)	T181A	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc36	A	G	8: 106,154,428 (GRCm39)	E33G	probably damaging	Het
Mettl13	G	T	1: 162,373,755 (GRCm39)	H165Q	probably damaging	Het
Mocos	G	A	18: 24,812,447 (GRCm39)	G447D	probably damaging	Het
Ngef	T	A	1: 87,413,953 (GRCm39)	K399N	probably damaging	Het
Ntrk1	A	G	3: 87,688,786 (GRCm39)	L589P	probably damaging	Het
Or4c104	C	T	2: 88,586,795 (GRCm39)	V75I	probably benign	Het
Pcdha2	A	G	18: 37,072,935 (GRCm39)	S189G	probably benign	Het
Peg10	T	G	6: 4,756,427 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,414,156 (GRCm39)	H2808Y	probably benign	Het
Plekhg1	A	G	10: 3,907,087 (GRCm39)	D668G	probably damaging	Het
Ptcd2	A	G	13: 99,481,084 (GRCm39)	C32R	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Rhoh	G	A	5: 66,049,931 (GRCm39)	S67N	probably benign	Het
Rnd3	A	G	2: 51,038,760 (GRCm39)	F43L	probably damaging	Het
Runx1	A	G	16: 92,441,134 (GRCm39)	V225A	probably benign	Het
Runx1t1	T	C	4: 13,889,769 (GRCm39)	V566A	probably benign	Het
Sall2	A	G	14: 52,552,028 (GRCm39)	I387T	probably damaging	Het
Sh3rf3	T	C	10: 58,919,355 (GRCm39)	C491R	probably damaging	Het
Slc22a27	T	A	19: 7,856,973 (GRCm39)		probably benign	Het
Spire1	A	G	18: 67,678,783 (GRCm39)	S53P	probably damaging	Het
Tmco3	A	G	8: 13,370,848 (GRCm39)	R671G	probably benign	Het
Tmpo	A	G	10: 90,998,123 (GRCm39)	S555P	probably benign	Het
Tnip1	A	G	11: 54,802,395 (GRCm39)	S638P	probably benign	Het
Tspan8	C	T	10: 115,671,187 (GRCm39)	R115*	probably null	Het
Txnrd1	A	G	10: 82,721,114 (GRCm39)	E510G	probably benign	Het
Ucp3	T	C	7: 100,131,871 (GRCm39)	Y241H	probably damaging	Het
Vmn2r96	A	G	17: 18,818,339 (GRCm39)	I831V	probably benign	Het
Zan	T	C	5: 137,435,082 (GRCm39)	I2104V	unknown	Het
Zfp619	A	C	7: 39,184,823 (GRCm39)	R284S	probably benign	Het
Zfp715	T	C	7: 42,951,155 (GRCm39)	M48V	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
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'- TCCTGTCTATTCTCTGCAAGGG -3'
(R):5'- TACATCAGGCTGACAACCCTG -3'

Sequencing Primer
(F):5'- CCTGTCTATTCTCTGCAAGGGAAATG -3'
(R):5'- GCTGACAACCCTGCCATTG -3'

Posted On

2015-04-30