Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00825:Sec23ip'

13951

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec23ip

Ensembl Gene

ENSMUSG00000055319

Gene Name

Sec23 interacting protein

Synonyms

p125, D7Ertd373e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.583) question?

Stock #

IGL00825

Quality Score

Status

Chromosome

Chromosomal Location

128346667-128386560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128369333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 686 (L686I)

Ref Sequence

ENSEMBL: ENSMUSP00000035610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042942]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042942
AA Change: L686I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: L686I

Domain	Start	End	E-Value	Type
low complexity region	8	26	N/A	INTRINSIC
low complexity region	41	51	N/A	INTRINSIC
low complexity region	79	88	N/A	INTRINSIC
low complexity region	203	215	N/A	INTRINSIC
low complexity region	222	230	N/A	INTRINSIC
Blast:DDHD	513	585	8e-33	BLAST
SAM	637	702	2.18e-9	SMART
DDHD	777	987	1.33e-74	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	C	T	18: 10,704,657 (GRCm39)	V129M	probably benign	Het
Casp8	G	A	1: 58,868,165 (GRCm39)	S202N	probably benign	Het
Cimap1c	A	G	9: 56,758,975 (GRCm39)	I60T	probably benign	Het
Clec2g	C	A	6: 128,957,144 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,263,811 (GRCm39)	Y2098H	probably damaging	Het
Dzip3	T	C	16: 48,748,778 (GRCm39)	K1053E	probably damaging	Het
Ern1	T	C	11: 106,312,793 (GRCm39)	K196R	probably benign	Het
Jcad	A	T	18: 4,673,516 (GRCm39)	Y426F	probably damaging	Het
Kansl1l	T	C	1: 66,840,671 (GRCm39)	T210A	probably benign	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
P3h2	A	G	16: 25,811,548 (GRCm39)	I225T	probably damaging	Het
Pld2	G	A	11: 70,442,006 (GRCm39)	W337*	probably null	Het
Ppp2r2b	C	T	18: 42,778,840 (GRCm39)	V429M	probably damaging	Het
Pprc1	G	T	19: 46,059,845 (GRCm39)		probably benign	Het
Ptpn4	A	G	1: 119,587,655 (GRCm39)		probably benign	Het
Rap1gds1	T	A	3: 138,689,588 (GRCm39)	I135F	possibly damaging	Het
Rasa2	A	T	9: 96,452,772 (GRCm39)	N371K	probably benign	Het
Rbbp8	A	G	18: 11,855,664 (GRCm39)	T604A	probably benign	Het
Safb2	A	G	17: 56,878,208 (GRCm39)		probably null	Het
Slc22a6	T	C	19: 8,595,721 (GRCm39)	V21A	possibly damaging	Het
Slco1c1	A	T	6: 141,487,868 (GRCm39)	N79Y	probably damaging	Het
Tbl1xr1	G	T	3: 22,243,950 (GRCm39)		probably null	Het
Zfp961	T	A	8: 72,721,888 (GRCm39)	C134S	possibly damaging	Het

Other mutations in Sec23ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Sec23ip	APN	7	128,364,129 (GRCm39)	missense	probably benign	0.08
IGL01358:Sec23ip	APN	7	128,354,521 (GRCm39)	missense	possibly damaging	0.68
IGL01656:Sec23ip	APN	7	128,351,969 (GRCm39)	missense	probably damaging	1.00
IGL01835:Sec23ip	APN	7	128,357,035 (GRCm39)	splice site	probably null
IGL02233:Sec23ip	APN	7	128,380,903 (GRCm39)	missense	probably damaging	1.00
IGL02499:Sec23ip	APN	7	128,378,640 (GRCm39)	missense	probably damaging	1.00
IGL03381:Sec23ip	APN	7	128,352,029 (GRCm39)	missense	probably damaging	0.97
R0053:Sec23ip	UTSW	7	128,346,891 (GRCm39)	missense	probably damaging	1.00
R0147:Sec23ip	UTSW	7	128,380,775 (GRCm39)	splice site	probably benign
R0360:Sec23ip	UTSW	7	128,363,129 (GRCm39)	splice site	probably benign
R1427:Sec23ip	UTSW	7	128,378,609 (GRCm39)	missense	probably damaging	0.99
R1442:Sec23ip	UTSW	7	128,378,510 (GRCm39)	missense	probably benign	0.10
R1462:Sec23ip	UTSW	7	128,367,862 (GRCm39)	missense	probably benign
R1462:Sec23ip	UTSW	7	128,367,862 (GRCm39)	missense	probably benign
R1564:Sec23ip	UTSW	7	128,368,005 (GRCm39)	splice site	probably null
R1876:Sec23ip	UTSW	7	128,354,575 (GRCm39)	missense	probably benign
R1966:Sec23ip	UTSW	7	128,357,077 (GRCm39)	missense	probably damaging	0.98
R1977:Sec23ip	UTSW	7	128,367,997 (GRCm39)	missense	probably damaging	1.00
R2115:Sec23ip	UTSW	7	128,364,185 (GRCm39)	missense	probably benign	0.00
R2847:Sec23ip	UTSW	7	128,355,797 (GRCm39)	missense	probably benign	0.00
R3958:Sec23ip	UTSW	7	128,378,574 (GRCm39)	missense	probably benign	0.35
R3959:Sec23ip	UTSW	7	128,378,574 (GRCm39)	missense	probably benign	0.35
R3960:Sec23ip	UTSW	7	128,378,574 (GRCm39)	missense	probably benign	0.35
R4287:Sec23ip	UTSW	7	128,379,057 (GRCm39)	missense	probably benign	0.37
R4510:Sec23ip	UTSW	7	128,380,900 (GRCm39)	missense	probably damaging	1.00
R4511:Sec23ip	UTSW	7	128,380,900 (GRCm39)	missense	probably damaging	1.00
R4612:Sec23ip	UTSW	7	128,352,226 (GRCm39)	nonsense	probably null
R4660:Sec23ip	UTSW	7	128,352,010 (GRCm39)	missense	probably null	0.00
R4890:Sec23ip	UTSW	7	128,354,634 (GRCm39)	missense	probably damaging	0.98
R5287:Sec23ip	UTSW	7	128,367,860 (GRCm39)	missense	probably benign
R5587:Sec23ip	UTSW	7	128,352,151 (GRCm39)	missense	probably benign
R5625:Sec23ip	UTSW	7	128,346,707 (GRCm39)	unclassified	probably benign
R5656:Sec23ip	UTSW	7	128,378,508 (GRCm39)	missense	probably damaging	1.00
R5808:Sec23ip	UTSW	7	128,373,908 (GRCm39)	missense	probably benign	0.00
R6034:Sec23ip	UTSW	7	128,351,927 (GRCm39)	missense	possibly damaging	0.66
R6034:Sec23ip	UTSW	7	128,351,927 (GRCm39)	missense	possibly damaging	0.66
R6145:Sec23ip	UTSW	7	128,380,208 (GRCm39)	missense	probably damaging	0.99
R6747:Sec23ip	UTSW	7	128,354,573 (GRCm39)	synonymous	silent
R6953:Sec23ip	UTSW	7	128,354,520 (GRCm39)	nonsense	probably null
R6992:Sec23ip	UTSW	7	128,367,164 (GRCm39)	missense	probably benign
R7131:Sec23ip	UTSW	7	128,381,364 (GRCm39)	missense	probably damaging	1.00
R7163:Sec23ip	UTSW	7	128,364,257 (GRCm39)	critical splice donor site	probably null
R7387:Sec23ip	UTSW	7	128,346,727 (GRCm39)	unclassified	probably benign
R7559:Sec23ip	UTSW	7	128,379,074 (GRCm39)	missense	possibly damaging	0.65
R7975:Sec23ip	UTSW	7	128,364,201 (GRCm39)	missense	probably damaging	1.00
R8158:Sec23ip	UTSW	7	128,369,364 (GRCm39)	missense	probably damaging	0.99
R8337:Sec23ip	UTSW	7	128,365,749 (GRCm39)	missense	probably damaging	1.00
R8409:Sec23ip	UTSW	7	128,365,855 (GRCm39)	missense	probably damaging	1.00
R8418:Sec23ip	UTSW	7	128,380,187 (GRCm39)	missense	probably damaging	0.98
R8434:Sec23ip	UTSW	7	128,352,151 (GRCm39)	missense	probably benign
R8461:Sec23ip	UTSW	7	128,373,926 (GRCm39)	missense	probably benign
R8553:Sec23ip	UTSW	7	128,355,777 (GRCm39)	missense	probably damaging	1.00
R8897:Sec23ip	UTSW	7	128,354,467 (GRCm39)	missense	probably benign	0.14
R9059:Sec23ip	UTSW	7	128,365,805 (GRCm39)	missense	probably damaging	1.00
R9142:Sec23ip	UTSW	7	128,363,226 (GRCm39)	missense	probably damaging	1.00
R9674:Sec23ip	UTSW	7	128,380,187 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-12-06