Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Sec23ip'

30050

Institutional Source

Beutler Lab

Gene Symbol

Sec23ip

Ensembl Gene

ENSMUSG00000055319

Gene Name

Sec23 interacting protein

Synonyms

D7Ertd373e, p125

MMRRC Submission

038566-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R0360 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

128744943-128784836 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 128761405 bp (GRCm38)

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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128 (GRCm38)		probably benign	Het
Adcyap1r1	G	T	6: 55,475,523 (GRCm38)		probably benign	Het
Ankrd6	T	C	4: 32,836,424 (GRCm38)	T44A	probably damaging	Het
Ano7	A	G	1: 93,388,658 (GRCm38)	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,664,750 (GRCm38)	N218K	probably damaging	Het
Bms1	A	G	6: 118,405,290 (GRCm38)	V429A	probably benign	Het
C7	T	A	15: 4,988,962 (GRCm38)	T800S	probably benign	Het
Camta2	G	A	11: 70,683,310 (GRCm38)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216 (GRCm38)	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,146,663 (GRCm38)	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,981,007 (GRCm38)	N310K	probably damaging	Het
Cfap91	T	A	16: 38,298,297 (GRCm38)		probably null	Het
Cmklr1	A	T	5: 113,614,517 (GRCm38)	L141H	probably damaging	Het
Cnst	C	A	1: 179,579,535 (GRCm38)	A49E	probably benign	Het
Col5a3	C	T	9: 20,772,466 (GRCm38)	R1498Q	unknown	Het
Crybb3	T	A	5: 113,075,953 (GRCm38)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267 (GRCm38)	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507 (GRCm38)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052 (GRCm38)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920 (GRCm38)	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,547,885 (GRCm38)	C112S	probably benign	Het
Dennd2a	T	C	6: 39,508,299 (GRCm38)	T349A	probably benign	Het
Dock5	G	A	14: 67,822,680 (GRCm38)		probably benign	Het
Dpp6	T	C	5: 27,652,269 (GRCm38)	L404P	probably damaging	Het
Dsc3	T	A	18: 19,971,582 (GRCm38)	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182 (GRCm38)	E214D	possibly damaging	Het
Elac2	A	G	11: 64,979,310 (GRCm38)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493 (GRCm38)	K503*	probably null	Het
Eng	T	C	2: 32,679,137 (GRCm38)	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133 (GRCm38)	V563E	possibly damaging	Het
Fancm	A	G	12: 65,075,950 (GRCm38)	Y82C	probably damaging	Het
Flt4	A	T	11: 49,636,991 (GRCm38)	M924L	probably benign	Het
Gabpa	T	A	16: 84,857,387 (GRCm38)	N317K	possibly damaging	Het
Gchfr	T	G	2: 119,167,846 (GRCm38)	Y3*	probably null	Het
Gli3	G	T	13: 15,724,764 (GRCm38)	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613 (GRCm38)	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664 (GRCm38)		probably benign	Het
Gp1ba	T	C	11: 70,640,458 (GRCm38)		probably benign	Het
Gpr146	G	A	5: 139,379,178 (GRCm38)		probably benign	Het
Hexd	T	A	11: 121,212,143 (GRCm38)	H62Q	probably benign	Het
Hgd	T	A	16: 37,611,184 (GRCm38)		probably benign	Het
Hs6st1	G	A	1: 36,069,185 (GRCm38)		probably null	Het
Icam4	A	G	9: 21,029,821 (GRCm38)	Y123C	probably damaging	Het
Il24	A	G	1: 130,883,937 (GRCm38)	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,872,308 (GRCm38)	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,731,275 (GRCm38)		probably benign	Het
Islr2	T	C	9: 58,199,744 (GRCm38)	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,262,729 (GRCm38)	I330T	probably damaging	Het
Kirrel1	T	C	3: 87,089,799 (GRCm38)	Y287C	probably damaging	Het
Klf10	C	T	15: 38,296,846 (GRCm38)	V317M	probably benign	Het
Klhl9	T	G	4: 88,720,290 (GRCm38)	K571N	probably benign	Het
Lin37	T	C	7: 30,557,013 (GRCm38)	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,500,640 (GRCm38)	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,737,795 (GRCm38)	H99R	probably damaging	Het
Me3	T	A	7: 89,786,414 (GRCm38)		probably null	Het
Med13	T	C	11: 86,329,161 (GRCm38)		probably benign	Het
Myh6	A	T	14: 54,948,347 (GRCm38)	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,368 (GRCm38)	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,157,706 (GRCm38)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004 (GRCm38)		probably benign	Het
Nlrp5-ps	A	C	7: 14,583,091 (GRCm38)		noncoding transcript	Het
Nup188	T	G	2: 30,326,479 (GRCm38)	I765S	probably null	Het
Obscn	G	A	11: 59,128,281 (GRCm38)	A969V	probably benign	Het
Or11a4	T	C	17: 37,226,043 (GRCm38)	L306P	possibly damaging	Het
Or1j19	T	A	2: 36,787,440 (GRCm38)	M305K	probably benign	Het
Or5a1	G	T	19: 12,119,853 (GRCm38)	D286E	possibly damaging	Het
Or8k33	A	T	2: 86,553,779 (GRCm38)	L115Q	probably damaging	Het
Otogl	T	A	10: 107,770,650 (GRCm38)		probably benign	Het
Pcnx3	G	A	19: 5,665,583 (GRCm38)	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,591,747 (GRCm38)	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,488,761 (GRCm38)		probably benign	Het
Pon2	G	A	6: 5,266,156 (GRCm38)	Q288*	probably null	Het
Ptpn13	C	A	5: 103,533,348 (GRCm38)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553 (GRCm38)	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964 (GRCm38)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347 (GRCm38)	S52P	probably benign	Het
Rgl3	A	G	9: 21,976,857 (GRCm38)	W454R	probably damaging	Het
Rita1	A	G	5: 120,609,772 (GRCm38)	S154P	probably benign	Het
Scn5a	T	C	9: 119,522,599 (GRCm38)	D772G	probably damaging	Het
Skic8	A	T	9: 54,727,578 (GRCm38)		probably benign	Het
Slc23a1	T	A	18: 35,622,979 (GRCm38)		probably benign	Het
Slco1a8	A	C	6: 141,982,327 (GRCm38)		probably benign	Het
Sparcl1	T	A	5: 104,089,637 (GRCm38)	D444V	probably damaging	Het
Taar6	C	A	10: 23,985,148 (GRCm38)	V167L	probably benign	Het
Tmcc3	T	A	10: 94,578,545 (GRCm38)	N36K	probably benign	Het
Tmem200c	T	A	17: 68,840,548 (GRCm38)	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982 (GRCm38)		probably benign	Het
Tshz3	A	G	7: 36,770,533 (GRCm38)	E649G	probably benign	Het
Utp4	T	C	8: 106,898,537 (GRCm38)		probably benign	Het
Vmn1r30	A	G	6: 58,435,277 (GRCm38)	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,678,843 (GRCm38)	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,410,330 (GRCm38)	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,361,872 (GRCm38)	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,615,649 (GRCm38)	C669S	probably damaging	Het
Zfp623	T	C	15: 75,948,661 (GRCm38)	S489P	probably benign	Het

Other mutations in Sec23ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Sec23ip	APN	7	128,767,609 (GRCm38)	missense	probably damaging	1.00
IGL01347:Sec23ip	APN	7	128,762,405 (GRCm38)	missense	probably benign	0.08
IGL01358:Sec23ip	APN	7	128,752,797 (GRCm38)	missense	possibly damaging	0.68
IGL01656:Sec23ip	APN	7	128,750,245 (GRCm38)	missense	probably damaging	1.00
IGL01835:Sec23ip	APN	7	128,755,311 (GRCm38)	splice site	probably null
IGL02233:Sec23ip	APN	7	128,779,179 (GRCm38)	missense	probably damaging	1.00
IGL02499:Sec23ip	APN	7	128,776,916 (GRCm38)	missense	probably damaging	1.00
IGL03381:Sec23ip	APN	7	128,750,305 (GRCm38)	missense	probably damaging	0.97
R0053:Sec23ip	UTSW	7	128,745,167 (GRCm38)	missense	probably damaging	1.00
R0147:Sec23ip	UTSW	7	128,779,051 (GRCm38)	splice site	probably benign
R1427:Sec23ip	UTSW	7	128,776,885 (GRCm38)	missense	probably damaging	0.99
R1442:Sec23ip	UTSW	7	128,776,786 (GRCm38)	missense	probably benign	0.10
R1462:Sec23ip	UTSW	7	128,766,138 (GRCm38)	missense	probably benign
R1462:Sec23ip	UTSW	7	128,766,138 (GRCm38)	missense	probably benign
R1564:Sec23ip	UTSW	7	128,766,281 (GRCm38)	splice site	probably null
R1876:Sec23ip	UTSW	7	128,752,851 (GRCm38)	missense	probably benign
R1966:Sec23ip	UTSW	7	128,755,353 (GRCm38)	missense	probably damaging	0.98
R1977:Sec23ip	UTSW	7	128,766,273 (GRCm38)	missense	probably damaging	1.00
R2115:Sec23ip	UTSW	7	128,762,461 (GRCm38)	missense	probably benign	0.00
R2847:Sec23ip	UTSW	7	128,754,073 (GRCm38)	missense	probably benign	0.00
R3958:Sec23ip	UTSW	7	128,776,850 (GRCm38)	missense	probably benign	0.35
R3959:Sec23ip	UTSW	7	128,776,850 (GRCm38)	missense	probably benign	0.35
R3960:Sec23ip	UTSW	7	128,776,850 (GRCm38)	missense	probably benign	0.35
R4287:Sec23ip	UTSW	7	128,777,333 (GRCm38)	missense	probably benign	0.37
R4510:Sec23ip	UTSW	7	128,779,176 (GRCm38)	missense	probably damaging	1.00
R4511:Sec23ip	UTSW	7	128,779,176 (GRCm38)	missense	probably damaging	1.00
R4612:Sec23ip	UTSW	7	128,750,502 (GRCm38)	nonsense	probably null
R4660:Sec23ip	UTSW	7	128,750,286 (GRCm38)	missense	probably null	0.00
R4890:Sec23ip	UTSW	7	128,752,910 (GRCm38)	missense	probably damaging	0.98
R5287:Sec23ip	UTSW	7	128,766,136 (GRCm38)	missense	probably benign
R5587:Sec23ip	UTSW	7	128,750,427 (GRCm38)	missense	probably benign
R5625:Sec23ip	UTSW	7	128,744,983 (GRCm38)	unclassified	probably benign
R5656:Sec23ip	UTSW	7	128,776,784 (GRCm38)	missense	probably damaging	1.00
R5808:Sec23ip	UTSW	7	128,772,184 (GRCm38)	missense	probably benign	0.00
R6034:Sec23ip	UTSW	7	128,750,203 (GRCm38)	missense	possibly damaging	0.66
R6034:Sec23ip	UTSW	7	128,750,203 (GRCm38)	missense	possibly damaging	0.66
R6145:Sec23ip	UTSW	7	128,778,484 (GRCm38)	missense	probably damaging	0.99
R6747:Sec23ip	UTSW	7	128,752,849 (GRCm38)	synonymous	silent
R6953:Sec23ip	UTSW	7	128,752,796 (GRCm38)	nonsense	probably null
R6992:Sec23ip	UTSW	7	128,765,440 (GRCm38)	missense	probably benign
R7131:Sec23ip	UTSW	7	128,779,640 (GRCm38)	missense	probably damaging	1.00
R7163:Sec23ip	UTSW	7	128,762,533 (GRCm38)	critical splice donor site	probably null
R7387:Sec23ip	UTSW	7	128,745,003 (GRCm38)	unclassified	probably benign
R7559:Sec23ip	UTSW	7	128,777,350 (GRCm38)	missense	possibly damaging	0.65
R7975:Sec23ip	UTSW	7	128,762,477 (GRCm38)	missense	probably damaging	1.00
R8158:Sec23ip	UTSW	7	128,767,640 (GRCm38)	missense	probably damaging	0.99
R8337:Sec23ip	UTSW	7	128,764,025 (GRCm38)	missense	probably damaging	1.00
R8409:Sec23ip	UTSW	7	128,764,131 (GRCm38)	missense	probably damaging	1.00
R8418:Sec23ip	UTSW	7	128,778,463 (GRCm38)	missense	probably damaging	0.98
R8434:Sec23ip	UTSW	7	128,750,427 (GRCm38)	missense	probably benign
R8461:Sec23ip	UTSW	7	128,772,202 (GRCm38)	missense	probably benign
R8553:Sec23ip	UTSW	7	128,754,053 (GRCm38)	missense	probably damaging	1.00
R8897:Sec23ip	UTSW	7	128,752,743 (GRCm38)	missense	probably benign	0.14
R9059:Sec23ip	UTSW	7	128,764,081 (GRCm38)	missense	probably damaging	1.00
R9142:Sec23ip	UTSW	7	128,761,502 (GRCm38)	missense	probably damaging	1.00
R9674:Sec23ip	UTSW	7	128,778,463 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGGCCATGTTCACGTACACAC -3'
(R):5'- AGCACTGGACTTGGAGTCGTCTAC -3'

Sequencing Primer
(F):5'- CAACCCTATGTTATGGAGAGTCAG -3'
(R):5'- ACTTGGAGTCGTCTACAAAGG -3'

Posted On

2013-04-24