Mutagenetix > Incidental Mutation

Incidental Mutation 'R6945:Seh1l'

540868

Institutional Source

Beutler Lab

Gene Symbol

Seh1l

Ensembl Gene

ENSMUSG00000079614

Gene Name

SEH1-like (S. cerevisiae

Synonyms

2610007A16Rik

MMRRC Submission

045059-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67907946-67928557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67922460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 271 (V271A)

Ref Sequence

ENSEMBL: ENSMUSP00000025421 (fasta)

Gene Model

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

AlphaFold

Q8R2U0

Predicted Effect

probably benign
Transcript: ENSMUST00000025421
AA Change: V271A

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

SMART Domains

Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614
AA Change: V271A

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	A	16: 20,218,759 (GRCm39)	T208S	probably benign	Het
Acaa2	A	G	18: 74,926,380 (GRCm39)	E112G	probably benign	Het
Adgrb1	A	G	15: 74,421,873 (GRCm39)	N881S	probably damaging	Het
Adgre1	A	G	17: 57,717,844 (GRCm39)	E314G	probably benign	Het
Adgre1	A	G	17: 57,727,399 (GRCm39)	E443G	probably benign	Het
Akp3	A	G	1: 87,053,353 (GRCm39)	Y102C	probably damaging	Het
Birc6	A	G	17: 74,886,526 (GRCm39)	N618S	probably benign	Het
Bpifc	A	G	10: 85,815,078 (GRCm39)	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,691,275 (GRCm39)		probably benign	Het
Cacnb4	T	C	2: 52,364,966 (GRCm39)	N99S	probably damaging	Het
Cd38	A	G	5: 44,065,348 (GRCm39)	Y283C	probably damaging	Het
Celf4	T	A	18: 25,629,293 (GRCm39)	Q411L	probably damaging	Het
Cemip	A	T	7: 83,647,755 (GRCm39)	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,452,720 (GRCm39)	E225G	unknown	Het
Dnah11	T	C	12: 118,024,045 (GRCm39)	E1902G	probably damaging	Het
Dst	A	G	1: 34,229,571 (GRCm39)	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,823,184 (GRCm39)	I6306L	probably benign	Het
Furin	A	G	7: 80,040,838 (GRCm39)	S667P	possibly damaging	Het
Glmp	T	A	3: 88,233,139 (GRCm39)	S92R	probably benign	Het
Gm11563	C	G	11: 99,549,298 (GRCm39)	C152S	unknown	Het
Gm3486	A	G	14: 41,206,518 (GRCm39)	V185A	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hyal1	C	A	9: 107,456,369 (GRCm39)	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785 (GRCm39)	C806R	probably benign	Het
L1td1	T	C	4: 98,621,933 (GRCm39)	V165A	probably benign	Het
Lama1	A	G	17: 68,120,861 (GRCm39)	T2666A		Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,146,239 (GRCm39)	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,464,152 (GRCm39)	F551S	possibly damaging	Het
Myo19	A	G	11: 84,788,386 (GRCm39)	T333A	probably benign	Het
Nrp2	A	T	1: 62,799,947 (GRCm39)	N387I	probably damaging	Het
Oas2	T	C	5: 120,874,204 (GRCm39)	D543G	probably benign	Het
Or2g25	A	G	17: 37,970,405 (GRCm39)	I273T	possibly damaging	Het
Or5al6	A	G	2: 85,976,428 (GRCm39)	S217P	probably damaging	Het
Pak5	A	G	2: 135,942,859 (GRCm39)	V427A	probably benign	Het
Pfas	G	A	11: 68,891,356 (GRCm39)	A247V	probably benign	Het
Pramel52-ps	C	T	5: 94,531,490 (GRCm39)	H125Y	possibly damaging	Het
Psat1	T	A	19: 15,894,545 (GRCm39)	T115S	probably benign	Het
Psme4	T	A	11: 30,787,437 (GRCm39)	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,509,752 (GRCm39)	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,822,976 (GRCm39)	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,331,256 (GRCm39)	E394D	probably damaging	Het
Sf3b1	A	T	1: 55,036,315 (GRCm39)	N919K	probably benign	Het
Sftpd	A	G	14: 40,896,449 (GRCm39)	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,831,430 (GRCm39)	E2G	probably damaging	Het
Spta1	A	G	1: 174,036,891 (GRCm39)	D1134G	possibly damaging	Het
Syna	A	G	5: 134,587,815 (GRCm39)	V378A	probably damaging	Het
Tchp	A	G	5: 114,847,411 (GRCm39)	K77E	possibly damaging	Het
Tescl	T	C	7: 24,032,956 (GRCm39)	N123S	probably benign	Het
Trio	C	T	15: 27,824,176 (GRCm39)	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,727,665 (GRCm39)	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 11,886,832 (GRCm39)	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1007	A	C	5: 109,824,711 (GRCm39)	N246K	probably benign	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
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
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'- GGAATGATGTTCAAGTAGTCCGAAG -3'
(R):5'- TCCTGGAGATACCCCATGTTC -3'

Sequencing Primer
(F):5'- AGTGGGGGAGTGGGCATC -3'
(R):5'- CTGGAGATACCCCATGTTCTAATTAG -3'

Posted On

2018-11-28