Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Seh1l'

43750

Institutional Source

Beutler Lab

Gene Symbol

Seh1l

Ensembl Gene

ENSMUSG00000079614

Gene Name

SEH1-like (S. cerevisiae

Synonyms

2610007A16Rik

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0046 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

67907946-67928557 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 67925086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025421]

AlphaFold

Q8R2U0

Predicted Effect

probably null
Transcript: ENSMUST00000025421

SMART Domains

Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614

Domain	Start	End	E-Value	Type
WD40	1	40	1.08e-4	SMART
WD40	46	87	1.88e-4	SMART
WD40	102	143	8.49e-3	SMART
WD40	152	201	1.14e2	SMART
Blast:WD40	208	249	1e-20	BLAST
WD40	267	306	1.28e-6	SMART
low complexity region	327	351	N/A	INTRINSIC

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(122) : Targeted(2) Gene trapped(120)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,483 (GRCm39)	P19L	probably damaging	Het
Apoa5	T	C	9: 46,181,296 (GRCm39)	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Atp7b	T	C	8: 22,550,011 (GRCm39)	T9A	probably benign	Het
Auh	G	A	13: 53,083,421 (GRCm39)		probably benign	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Card11	T	C	5: 140,894,279 (GRCm39)	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,942,434 (GRCm39)	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,626,047 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,666,236 (GRCm39)		noncoding transcript	Het
Dhx9	C	T	1: 153,348,453 (GRCm39)	V291M	probably benign	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,496,033 (GRCm39)		probably null	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Fat3	T	C	9: 15,877,275 (GRCm39)	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,593,964 (GRCm39)		probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,699,604 (GRCm39)		probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Khdrbs2	A	G	1: 32,658,283 (GRCm39)	D281G	possibly damaging	Het
Krt86	A	T	15: 101,375,283 (GRCm39)	M393L	probably benign	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Nrp1	C	T	8: 129,227,089 (GRCm39)		probably benign	Het
Or11g26	T	A	14: 50,753,596 (GRCm39)	*312K	probably null	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or8k33	A	G	2: 86,383,976 (GRCm39)	F164S	probably damaging	Het
Pcdhb13	A	T	18: 37,577,310 (GRCm39)	M563L	probably benign	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Peli2	C	T	14: 48,358,659 (GRCm39)	P16S	possibly damaging	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Pik3c2a	A	T	7: 115,953,307 (GRCm39)	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 110,262,617 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Sis	T	G	3: 72,839,427 (GRCm39)	N813T	probably benign	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Vmn2r111	A	G	17: 22,766,990 (GRCm39)	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,451,146 (GRCm39)	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	probably damaging	Het

Other mutations in Seh1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02061:Seh1l	APN	18	67,920,328 (GRCm39)	splice site	probably benign
IGL02166:Seh1l	APN	18	67,918,093 (GRCm39)	missense	probably damaging	0.96
IGL02557:Seh1l	APN	18	67,922,483 (GRCm39)	missense	probably benign	0.15
IGL03047:Seh1l	UTSW	18	67,922,520 (GRCm39)	missense	probably damaging	1.00
R0046:Seh1l	UTSW	18	67,925,086 (GRCm39)	critical splice donor site	probably null
R1465:Seh1l	UTSW	18	67,917,054 (GRCm39)	missense	probably damaging	1.00
R1465:Seh1l	UTSW	18	67,917,054 (GRCm39)	missense	probably damaging	1.00
R1618:Seh1l	UTSW	18	67,921,806 (GRCm39)	missense	probably damaging	1.00
R2112:Seh1l	UTSW	18	67,920,249 (GRCm39)	missense	probably damaging	0.98
R3433:Seh1l	UTSW	18	67,926,222 (GRCm39)	missense	probably benign	0.08
R3780:Seh1l	UTSW	18	67,908,087 (GRCm39)	missense	probably benign	0.02
R4084:Seh1l	UTSW	18	67,921,860 (GRCm39)	missense	possibly damaging	0.50
R5326:Seh1l	UTSW	18	67,908,069 (GRCm39)	start gained	probably benign
R6518:Seh1l	UTSW	18	67,922,519 (GRCm39)	missense	probably damaging	1.00
R6945:Seh1l	UTSW	18	67,922,460 (GRCm39)	missense	probably benign	0.00
R7448:Seh1l	UTSW	18	67,916,988 (GRCm39)	missense	probably damaging	1.00
R7582:Seh1l	UTSW	18	67,908,188 (GRCm39)	nonsense	probably null
R8383:Seh1l	UTSW	18	67,908,126 (GRCm39)	missense	possibly damaging	0.95
R8930:Seh1l	UTSW	18	67,908,134 (GRCm39)	missense	possibly damaging	0.88
R8932:Seh1l	UTSW	18	67,908,134 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GGACATGAATGGGAATACAGGCATACAT -3'
(R):5'- TGTCCATACTATAACCAAGGAAGCCACT -3'

Sequencing Primer
(F):5'- GGGAATACAGGCATACATTATACAC -3'
(R):5'- aggtggctcagcaattaagg -3'

Posted On

2013-05-29