Mutagenetix > Incidental Mutation

Incidental Mutation 'R0147:Sec23ip'

22622

Institutional Source

Beutler Lab

Gene Symbol

Sec23ip

Ensembl Gene

ENSMUSG00000055319

Gene Name

Sec23 interacting protein

Synonyms

p125, D7Ertd373e

MMRRC Submission

038431-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.583) question?

Stock #

R0147 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

128346667-128386560 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 128380775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035610 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042942

SMART Domains

Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104095

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Abtb2	A	G	2: 103,397,480 (GRCm39)	I137V	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Arl6	T	C	16: 59,439,153 (GRCm39)		probably benign	Het
Avl9	T	A	6: 56,713,487 (GRCm39)	D248E	probably benign	Het
Becn1	T	C	11: 101,192,562 (GRCm39)	E40G	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,381,324 (GRCm39)	T19I	probably damaging	Het
Casc3	T	A	11: 98,713,325 (GRCm39)	N246K	possibly damaging	Het
Celf1	G	T	2: 90,835,035 (GRCm39)		probably benign	Het
Chrm3	G	T	13: 9,928,780 (GRCm39)	N85K	probably damaging	Het
Cluh	T	A	11: 74,556,764 (GRCm39)	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,802,993 (GRCm39)	D1324G	unknown	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,044,987 (GRCm39)		probably benign	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,503,377 (GRCm39)	N9K	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fam98c	T	A	7: 28,852,146 (GRCm39)	R340*	probably null	Het
Fbxw10	T	G	11: 62,738,307 (GRCm39)		probably null	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Grid2	T	C	6: 64,510,571 (GRCm39)	Y734H	probably benign	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Hectd3	T	C	4: 116,854,237 (GRCm39)		probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Ip6k1	T	A	9: 107,923,093 (GRCm39)	D408E	probably damaging	Het
Irs2	A	T	8: 11,057,568 (GRCm39)	M288K	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Knop1	C	A	7: 118,445,061 (GRCm39)	R301L	probably benign	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mprip	T	A	11: 59,627,899 (GRCm39)	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,237,627 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,364,776 (GRCm39)	S1917P	probably benign	Het
Muc6	C	T	7: 141,238,255 (GRCm39)	C75Y	probably damaging	Het
Naip1	A	T	13: 100,563,418 (GRCm39)	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,471,211 (GRCm39)	R264*	probably null	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nsmce2	T	G	15: 59,250,806 (GRCm39)	S26A	probably damaging	Het
Or52s19	T	C	7: 103,007,613 (GRCm39)	T263A	possibly damaging	Het
Or5m13b	T	A	2: 85,754,362 (GRCm39)	I250N	possibly damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pax1	A	G	2: 147,215,654 (GRCm39)	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Plxna1	C	T	6: 89,297,692 (GRCm39)	A1831T	possibly damaging	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,340,610 (GRCm39)	V299A	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,322,328 (GRCm39)	R594C	probably damaging	Het
Rnf13	A	G	3: 57,709,889 (GRCm39)	D144G	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Slc25a26	T	A	6: 94,569,507 (GRCm39)		probably null	Het
Slc6a7	A	G	18: 61,135,183 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,562 (GRCm39)		noncoding transcript	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Spata22	T	A	11: 73,221,979 (GRCm39)	M1K	probably null	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tasor	A	G	14: 27,193,725 (GRCm39)	D975G	probably benign	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,037,233 (GRCm39)	V365L	probably benign	Het
Tmc3	T	C	7: 83,256,950 (GRCm39)	V401A	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Unc5b	A	T	10: 60,608,076 (GRCm39)	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,298,107 (GRCm39)	M265T	probably benign	Het
Vps54	T	A	11: 21,250,259 (GRCm39)	D548E	probably benign	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfp710	T	A	7: 79,731,721 (GRCm39)	C299*	probably null	Het

Other mutations in Sec23ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Sec23ip	APN	7	128,369,333 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GATTGTGTCAGATTGGATGGACCCC -3'
(R):5'- AGCATCTCCACTCTGAGCGTAAAAC -3'

Sequencing Primer
(F):5'- CTTCCCTAAAGGGGATGGAGTC -3'
(R):5'- CGGGCAATTAAGACAAAGACTTTC -3'

Posted On

2013-04-16