Mutagenetix > Incidental Mutation

Incidental Mutation 'R4036:Ndc1'

313709

Institutional Source

Beutler Lab

Gene Symbol

Ndc1

Ensembl Gene

ENSMUSG00000028614

Gene Name

NDC1 transmembrane nucleoporin

Synonyms

sks, Tmem48, 2810475A17Rik

MMRRC Submission

040963-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R4036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107367784-107416346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107411072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 602 (D602N)

Ref Sequence

ENSEMBL: ENSMUSP00000120365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030357] [ENSMUST00000125342] [ENSMUST00000139560] [ENSMUST00000149366]

AlphaFold

Q8VCB1

Predicted Effect

probably benign
Transcript: ENSMUST00000030357

Predicted Effect

probably benign
Transcript: ENSMUST00000125342

Predicted Effect

probably benign
Transcript: ENSMUST00000139560
AA Change: D602N

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120365
Gene: ENSMUSG00000028614
AA Change: D602N

Domain	Start	End	E-Value	Type
Pfam:Ndc1_Nup	20	666	1.7e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149366

SMART Domains

Protein: ENSMUSP00000137180
Gene: ENSMUSG00000028614

Domain	Start	End	E-Value	Type
Pfam:Ndc1_Nup	19	511	3.7e-136	PFAM

Meta Mutation Damage Score

0.4782

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (33/33)

MGI Phenotype

PHENOTYPE: Mutations in this gene produce background sensitive growth rates and skeletal anomalies. Both females and males are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544M13Rik	T	C	13: 114,607,669		noncoding transcript	Het
Ahctf1	T	C	1: 179,762,616	Q1364R	possibly damaging	Het
Anxa2	A	G	9: 69,488,070	N265S	probably damaging	Het
Bcan	A	G	3: 87,996,116		probably null	Het
Cntln	A	G	4: 85,006,488	Y610C	probably damaging	Het
Cyp39a1	C	A	17: 43,676,940	A99E	probably damaging	Het
Drc1	A	G	5: 30,347,182	I223V	probably benign	Het
Eef2kmt	A	T	16: 5,245,271	V335D	probably damaging	Het
Fanci	T	C	7: 79,444,822	L1167P	probably damaging	Het
Glb1l3	A	C	9: 26,829,047	M329R	probably damaging	Het
Gns	C	A	10: 121,371,190	T72N	probably damaging	Het
Hspa2	T	C	12: 76,405,768	V412A	probably damaging	Het
Klk8	A	G	7: 43,798,087	I9V	probably null	Het
Map4	A	G	9: 110,032,215	T216A	possibly damaging	Het
Metrn	T	C	17: 25,795,010	T281A	probably benign	Het
Mid1-ps1	G	A	Y: 90,762,294		noncoding transcript	Het
Nsd1	A	G	13: 55,213,711	D164G	possibly damaging	Het
Olfr204	T	A	16: 59,314,750	H219L	probably benign	Het
Pcdha8	T	C	18: 36,992,861	M132T	probably benign	Het
Pomt2	A	G	12: 87,111,522		probably null	Het
Prrt3	AGGGGG	AGGGG	6: 113,497,680		probably null	Het
Rfx6	T	A	10: 51,726,746	H786Q	probably damaging	Het
Scn4a	A	C	11: 106,322,057	L1374R	possibly damaging	Het
Slc16a9	C	T	10: 70,274,956	T124M	probably damaging	Het
Slc46a2	A	T	4: 59,913,818	F368L	probably damaging	Het
St18	T	A	1: 6,827,786	I604K	probably damaging	Het
Ttn	A	G	2: 76,718,153	V31935A	possibly damaging	Het
Urb1	T	C	16: 90,788,086	H549R	probably benign	Het
Vmn1r219	A	G	13: 23,163,102	M154V	probably benign	Het
Zfp575	G	A	7: 24,586,015	S67L	possibly damaging	Het

Other mutations in Ndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Ndc1	APN	4	107384780	splice site	probably benign
IGL00929:Ndc1	APN	4	107389497	missense	probably benign	0.23
IGL01340:Ndc1	APN	4	107374147	missense	probably damaging	1.00
IGL01376:Ndc1	APN	4	107375197	missense	probably damaging	1.00
IGL01954:Ndc1	APN	4	107395804	missense	probably damaging	1.00
IGL02290:Ndc1	APN	4	107394995	splice site	probably benign
IGL03251:Ndc1	APN	4	107380659	missense	possibly damaging	0.50
R1168:Ndc1	UTSW	4	107395812	missense	probably benign	0.02
R1541:Ndc1	UTSW	4	107371288	nonsense	probably null
R1605:Ndc1	UTSW	4	107368096	missense	probably damaging	0.96
R1612:Ndc1	UTSW	4	107395068	splice site	probably benign
R1716:Ndc1	UTSW	4	107384795	missense	probably damaging	1.00
R3522:Ndc1	UTSW	4	107393158	missense	probably damaging	0.99
R4698:Ndc1	UTSW	4	107411137	missense	probably benign	0.06
R4794:Ndc1	UTSW	4	107390222	missense	probably benign	0.03
R5053:Ndc1	UTSW	4	107374218	missense	probably damaging	1.00
R5097:Ndc1	UTSW	4	107374161	missense	probably benign	0.01
R5158:Ndc1	UTSW	4	107375165	missense	probably damaging	1.00
R5217:Ndc1	UTSW	4	107389576	missense	probably benign
R5579:Ndc1	UTSW	4	107380704	missense	possibly damaging	0.74
R5666:Ndc1	UTSW	4	107389526	missense	possibly damaging	0.52
R5855:Ndc1	UTSW	4	107383707	missense	probably damaging	1.00
R6180:Ndc1	UTSW	4	107411198	missense	possibly damaging	0.65
R6525:Ndc1	UTSW	4	107368107	missense	probably benign	0.01
R8065:Ndc1	UTSW	4	107390398	missense	probably benign	0.01
R8067:Ndc1	UTSW	4	107390398	missense	probably benign	0.01
R8100:Ndc1	UTSW	4	107383605	missense	possibly damaging	0.94
R8428:Ndc1	UTSW	4	107368820	missense	probably benign	0.00
R8952:Ndc1	UTSW	4	107390426	missense	probably benign	0.00
R8953:Ndc1	UTSW	4	107381693	missense	probably damaging	1.00
R9489:Ndc1	UTSW	4	107390666	critical splice donor site	probably null
R9606:Ndc1	UTSW	4	107389489	missense	probably damaging	0.97
Z1176:Ndc1	UTSW	4	107386602	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGTCACTAAAGAACACACATGTC -3'
(R):5'- TCGGATGGGTAACTTACTTCAGATG -3'

Sequencing Primer
(F):5'- CGTCAGAGAGCAGCTTTAGAGTC -3'
(R):5'- CTTCAGATGTTCACCAAACGTG -3'

Posted On

2015-04-30