Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02166:Seh1l'

282711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Seh1l

Ensembl Gene

ENSMUSG00000079614

Gene Name

SEH1-like (S. cerevisiae

Synonyms

2610007A16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02166

Quality Score

Status

Chromosome

Chromosomal Location

67907946-67928557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67918093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 149 (N149S)

Ref Sequence

ENSEMBL: ENSMUSP00000025421 (fasta)

Gene Model

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

AlphaFold

Q8R2U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025421
AA Change: N149S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614
AA Change: N149S

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	A	G	13: 63,163,267 (GRCm39)	H96R	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cdh8	T	C	8: 99,917,083 (GRCm39)	D344G	probably damaging	Het
Ciao3	A	G	17: 25,999,294 (GRCm39)	D236G	possibly damaging	Het
Cltc	T	C	11: 86,594,914 (GRCm39)	I1399V	probably benign	Het
Col4a1	A	T	8: 11,294,509 (GRCm39)		probably benign	Het
Crtc3	C	T	7: 80,327,147 (GRCm39)	G60R	probably damaging	Het
Dscaml1	G	A	9: 45,594,999 (GRCm39)	V701M	probably damaging	Het
Eif3b	T	A	5: 140,425,705 (GRCm39)	C632S	possibly damaging	Het
Ephb3	G	A	16: 21,039,499 (GRCm39)	R417Q	probably damaging	Het
Fpr3	T	C	17: 18,190,726 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,678,149 (GRCm39)	V104A	probably damaging	Het
Ighv1-55	T	C	12: 115,171,840 (GRCm39)	S76G	probably benign	Het
Ikbip	T	C	10: 90,931,652 (GRCm39)	S99P	probably damaging	Het
Lnpk	T	C	2: 74,360,061 (GRCm39)	E318G	probably damaging	Het
Lrrc66	G	A	5: 73,764,634 (GRCm39)	T803M	probably damaging	Het
Nxf2	C	A	X: 133,857,878 (GRCm39)	W89L	possibly damaging	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or5d46	A	T	2: 88,170,022 (GRCm39)	I38F	probably damaging	Het
Or6c3b	T	A	10: 129,527,782 (GRCm39)	I43F	probably benign	Het
Osbp2	A	T	11: 3,667,983 (GRCm39)	C5S	probably damaging	Het
Ovol2	T	C	2: 144,147,650 (GRCm39)	N200S	possibly damaging	Het
Ppp4r1	A	G	17: 66,120,487 (GRCm39)	D207G	probably benign	Het
Prdm11	C	T	2: 92,843,208 (GRCm39)	V84M	probably damaging	Het
Rspo3	T	A	10: 29,411,275 (GRCm39)	E17V	possibly damaging	Het
Scarf2	A	G	16: 17,621,620 (GRCm39)	N357D	probably damaging	Het
Scn9a	A	T	2: 66,323,447 (GRCm39)	D1447E	possibly damaging	Het
Sdad1	G	A	5: 92,439,621 (GRCm39)	T433I	probably benign	Het
Sigirr	T	C	7: 140,672,140 (GRCm39)	I268M	probably benign	Het
Slc35d2	A	G	13: 64,246,162 (GRCm39)	F282S	probably damaging	Het
Slc4a1	A	T	11: 102,245,159 (GRCm39)	M596K	probably damaging	Het
Spta1	G	A	1: 174,017,797 (GRCm39)	E494K	probably damaging	Het
Stk32b	C	A	5: 37,656,374 (GRCm39)		probably benign	Het
Tex13b	T	C	X: 139,713,475 (GRCm39)	E122G	probably damaging	Het
Tmem35a	A	G	X: 133,205,357 (GRCm39)	N91S	probably damaging	Het
Tmem67	A	G	4: 12,047,313 (GRCm39)	V841A	possibly damaging	Het
Trdv2-1	A	G	14: 54,184,068 (GRCm39)	D100G	probably benign	Het
Tshz3	T	C	7: 36,468,346 (GRCm39)	S112P	probably benign	Het
Tssc4	T	C	7: 142,623,938 (GRCm39)	M82T	probably benign	Het
Ttn	A	G	2: 76,562,723 (GRCm39)	S28744P	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vim	T	C	2: 13,579,405 (GRCm39)	S55P	probably damaging	Het
Zmat5	T	A	11: 4,687,363 (GRCm39)	Y139N	possibly damaging	Het
Zswim2	G	A	2: 83,745,750 (GRCm39)	Q563*	probably null	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
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
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

Posted On

2015-04-16