Mutagenetix > Incidental Mutation

Incidental Mutation 'R4660:Sec23ip'

352772

Institutional Source

Beutler Lab

Gene Symbol

Sec23ip

Ensembl Gene

ENSMUSG00000055319

Gene Name

Sec23 interacting protein

Synonyms

p125, D7Ertd373e

MMRRC Submission

041920-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.583) question?

Stock #

R4660 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128346667-128386560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128352010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 26 (S26G)

Ref Sequence

ENSEMBL: ENSMUSP00000145911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042942] [ENSMUST00000206986]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042942
AA Change: S129G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000035610
Gene: ENSMUSG00000055319
AA Change: S129G

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

probably benign
Transcript: ENSMUST00000205856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206504

Predicted Effect

probably null
Transcript: ENSMUST00000206986
AA Change: S26G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (102/106)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,062 (GRCm39)	T343A	probably damaging	Het
Angptl4	A	T	17: 33,996,249 (GRCm39)		probably benign	Het
Antxr2	A	T	5: 98,151,913 (GRCm39)		probably null	Het
Ap1b1	T	A	11: 4,966,760 (GRCm39)	V145E	probably damaging	Het
Asns	G	T	6: 7,678,012 (GRCm39)	N355K	probably benign	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
B4galt7	T	A	13: 55,752,111 (GRCm39)	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777 (GRCm39)	P415S	probably benign	Het
Bbs9	G	A	9: 22,490,063 (GRCm39)	R278Q	probably benign	Het
Blzf1	C	T	1: 164,134,062 (GRCm39)		probably benign	Het
Btd	A	T	14: 31,389,760 (GRCm39)	T494S	probably benign	Het
Casp9	C	T	4: 141,540,934 (GRCm39)	T434I	probably benign	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Ccnk	C	T	12: 108,168,575 (GRCm39)		probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip1	G	A	5: 123,717,437 (GRCm39)	T1284I	probably damaging	Het
Coch	T	C	12: 51,642,268 (GRCm39)	V80A	probably benign	Het
Cttnbp2	A	G	6: 18,406,536 (GRCm39)	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,083,579 (GRCm39)	R457K	probably benign	Het
Dalrd3	T	C	9: 108,447,568 (GRCm39)	S129P	probably benign	Het
Ddx10	A	G	9: 53,147,698 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,328,696 (GRCm39)	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eif2s2	G	A	2: 154,730,189 (GRCm39)	T36I	probably benign	Het
Fam118b	A	T	9: 35,146,551 (GRCm39)	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,408,377 (GRCm39)	I250N	probably damaging	Het
Gm11544	C	T	11: 94,736,306 (GRCm39)		noncoding transcript	Het
Gm5709	C	T	3: 59,526,124 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,707,980 (GRCm39)	I107N	probably damaging	Het
Gpld1	T	C	13: 25,166,586 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,720,019 (GRCm39)	T768S	probably damaging	Het
H2-T23	T	G	17: 36,341,108 (GRCm39)	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,710 (GRCm39)		probably benign	Het
Iqgap3	T	G	3: 88,027,483 (GRCm39)	L702R	probably damaging	Het
Itga8	A	G	2: 12,270,069 (GRCm39)	V139A	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,594,772 (GRCm39)	I353V	probably benign	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Lingo4	T	A	3: 94,310,672 (GRCm39)	S537T	probably benign	Het
Lipo3	C	T	19: 33,598,360 (GRCm39)		probably benign	Het
Lrrc3	G	T	10: 77,729,866 (GRCm39)		probably benign	Het
Ltbp3	T	A	19: 5,798,814 (GRCm39)		probably null	Het
Lyg1	T	A	1: 37,985,942 (GRCm39)		probably benign	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mfsd8	T	A	3: 40,776,372 (GRCm39)	I427F	probably benign	Het
Mga	T	A	2: 119,769,104 (GRCm39)		probably benign	Het
Miga1	A	G	3: 151,993,155 (GRCm39)	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536 (GRCm39)	I42V	probably benign	Het
Mybbp1a	T	C	11: 72,336,538 (GRCm39)	V510A	probably benign	Het
Nccrp1	G	T	7: 28,245,760 (GRCm39)	P135T	probably damaging	Het
Neb	T	A	2: 52,145,600 (GRCm39)	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,710,011 (GRCm39)	I171N	probably damaging	Het
Odad2	A	G	18: 7,211,609 (GRCm39)	V755A	possibly damaging	Het
Or10q3	T	C	19: 11,848,412 (GRCm39)	H56R	possibly damaging	Het
Or12j5	A	T	7: 140,083,933 (GRCm39)	F146L	probably benign	Het
Or13a19	T	C	7: 139,903,325 (GRCm39)	F238L	possibly damaging	Het
Otop1	T	G	5: 38,457,368 (GRCm39)	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,322,932 (GRCm39)	V10A	possibly damaging	Het
Pgs1	T	C	11: 117,910,503 (GRCm39)	V538A	probably damaging	Het
Ppa2	A	T	3: 133,032,445 (GRCm39)	T97S	probably damaging	Het
Pramel22	T	A	4: 143,380,847 (GRCm39)	Y392F	probably benign	Het
Pramel26	A	G	4: 143,538,435 (GRCm39)	S179P	probably benign	Het
Prdm10	G	A	9: 31,238,624 (GRCm39)	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,508,464 (GRCm39)	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,158,796 (GRCm39)	R55C	probably damaging	Het
Ptpn9	A	T	9: 56,943,782 (GRCm39)	T105S	probably benign	Het
Rundc1	T	A	11: 101,324,830 (GRCm39)	V512E	possibly damaging	Het
Scrib	G	A	15: 75,937,185 (GRCm39)	S307L	probably damaging	Het
Sec61a2	A	G	2: 5,878,504 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,877,511 (GRCm39)	V206A	probably damaging	Het
Sgk2	C	T	2: 162,839,763 (GRCm39)	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,738,540 (GRCm39)	T592I	probably damaging	Het
Slc5a11	T	C	7: 122,864,486 (GRCm39)	Y361H	probably damaging	Het
Smc6	T	C	12: 11,324,008 (GRCm39)	V51A	probably damaging	Het
Stab1	A	T	14: 30,876,872 (GRCm39)	N817K	possibly damaging	Het
Swt1	A	T	1: 151,283,348 (GRCm39)	D336E	probably benign	Het
Taf13	T	A	3: 108,480,293 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,175,845 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,156 (GRCm39)	S209P	probably benign	Het
Try10	A	G	6: 41,334,761 (GRCm39)	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,788,714 (GRCm39)	Y183*	probably null	Het
Ttc17	A	T	2: 94,194,774 (GRCm39)	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,535,016 (GRCm39)	P305L	probably damaging	Het
Tulp3	G	A	6: 128,300,017 (GRCm39)		probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505 (GRCm39)	V453A	probably damaging	Het
Vmn2r103	A	T	17: 20,032,077 (GRCm39)	N617I	probably damaging	Het
Xirp1	G	T	9: 119,846,058 (GRCm39)	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,676,451 (GRCm39)	V731G	probably benign	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp639	T	C	3: 32,574,679 (GRCm39)	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,355,820 (GRCm39)	H443R	probably damaging	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
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
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'- GGTCAGACTTCTACTCACACATC -3'
(R):5'- TGGCATCTGACACTGCTGTAG -3'

Sequencing Primer
(F):5'- GACTTCTACTCACACATCCACGC -3'
(R):5'- TTTGCCCGGCTGCTGAC -3'

Posted On

2015-10-08