Mutagenetix > Incidental Mutation

Incidental Mutation 'R3433:Seh1l'

266319

Institutional Source

Beutler Lab

Gene Symbol

Seh1l

Ensembl Gene

ENSMUSG00000079614

Gene Name

SEH1-like (S. cerevisiae

Synonyms

2610007A16Rik

MMRRC Submission

040651-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67907946-67928557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67926222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 358 (K358T)

Ref Sequence

ENSEMBL: ENSMUSP00000025421 (fasta)

Gene Model

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

AlphaFold

Q8R2U0

Predicted Effect

probably benign
Transcript: ENSMUST00000025421
AA Change: K358T

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025421
Gene: ENSMUSG00000079614
AA Change: K358T

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

0.0779

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,455 (GRCm39)	W1302R	probably damaging	Het
Abcf1	A	G	17: 36,269,109 (GRCm39)	Y689H	probably benign	Het
Adamtsl5	T	C	10: 80,178,725 (GRCm39)	T218A	probably benign	Het
Ahnak	G	T	19: 8,987,358 (GRCm39)	V2881L	probably benign	Het
Atp6v1b1	C	A	6: 83,720,074 (GRCm39)	T3K	possibly damaging	Het
Atp8b5	A	T	4: 43,372,697 (GRCm39)	R1112S	probably benign	Het
Carmil3	A	G	14: 55,745,151 (GRCm39)	D1331G	probably benign	Het
Catsperg2	A	G	7: 29,400,643 (GRCm39)	F696S	possibly damaging	Het
Cd33	T	C	7: 43,179,331 (GRCm39)	T273A	probably benign	Het
Cenpf	C	T	1: 189,392,146 (GRCm39)	C562Y	probably damaging	Het
Cep192	A	G	18: 67,967,963 (GRCm39)	R816G	probably benign	Het
Cnot11	G	A	1: 39,584,268 (GRCm39)		probably null	Het
Col18a1	A	G	10: 76,932,102 (GRCm39)	L329P	unknown	Het
Dnah9	T	C	11: 65,965,938 (GRCm39)	M1693V	possibly damaging	Het
Fbxo41	A	G	6: 85,454,613 (GRCm39)	I701T	probably damaging	Het
Figla	G	T	6: 85,994,411 (GRCm39)	R62L	probably damaging	Het
Gca	T	G	2: 62,520,318 (GRCm39)	S159R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10845	C	T	14: 80,100,851 (GRCm39)		noncoding transcript	Het
Gm5114	T	C	7: 39,058,621 (GRCm39)	K333E	probably benign	Het
Ift140	T	C	17: 25,255,282 (GRCm39)	I466T	probably benign	Het
Il6st	A	G	13: 112,640,365 (GRCm39)	K653E	probably damaging	Het
Kansl2	A	G	15: 98,426,742 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,552,261 (GRCm39)	D910G	probably benign	Het
Leng8	C	A	7: 4,145,131 (GRCm39)	T177K	probably benign	Het
Lrrtm2	A	C	18: 35,346,950 (GRCm39)	S117R	probably damaging	Het
Megf8	G	T	7: 25,059,549 (GRCm39)	A2285S	probably benign	Het
Meiob	T	C	17: 25,035,571 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,708,870 (GRCm39)		probably null	Het
Nars1	A	T	18: 64,642,374 (GRCm39)	M156K	probably damaging	Het
Ndor1	A	G	2: 25,137,823 (GRCm39)	S499P	possibly damaging	Het
Or2a57	A	T	6: 43,212,607 (GRCm39)	I22F	probably damaging	Het
Or2r11	G	A	6: 42,437,888 (GRCm39)	H22Y	probably benign	Het
Or4a78	T	C	2: 89,497,577 (GRCm39)	I218V	probably benign	Het
Pcdh15	T	G	10: 74,467,331 (GRCm39)	S1715A	probably benign	Het
Ptprd	C	A	4: 76,004,248 (GRCm39)		probably null	Het
Ros1	A	G	10: 51,967,204 (GRCm39)	Y1668H	probably benign	Het
Rrbp1	A	G	2: 143,794,200 (GRCm39)		probably benign	Het
Rtn4rl2	T	C	2: 84,702,444 (GRCm39)	Y376C	probably damaging	Het
Sema3e	A	T	5: 14,302,728 (GRCm39)	Y751F	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spred2	G	T	11: 19,948,277 (GRCm39)	E91*	probably null	Het
Sspo	A	T	6: 48,452,885 (GRCm39)		probably null	Het
Tcaf1	A	G	6: 42,663,508 (GRCm39)	V124A	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,360 (GRCm39)		probably benign	Het
Txndc11	T	C	16: 10,906,052 (GRCm39)	T493A	probably benign	Het
Usp17lb	T	A	7: 104,490,855 (GRCm39)	Q23L	possibly damaging	Het
Vgf	T	C	5: 137,059,873 (GRCm39)	F12L	probably benign	Het
Zfp13	G	A	17: 23,795,602 (GRCm39)	T323I	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
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
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'- GTGTTTCCAGTTACTATGGAGAAGAAC -3'
(R):5'- CCATTTATAGTGTCAGGAGGCTG -3'

Sequencing Primer
(F):5'- TTACAGCTTTAGTTCTGTGT -3'
(R):5'- TTATATACACTGTCACTTTAAAGGCC -3'

Posted On

2015-02-18