Mutagenetix > Incidental Mutations

Incidental Mutation 'R5855:Ndc1'

454856

Institutional Source

Beutler Lab

Gene Symbol

Ndc1

Ensembl Gene

ENSMUSG00000028614

Gene Name

NDC1 transmembrane nucleoporin

Synonyms

sks, Tmem48, 2810475A17Rik

MMRRC Submission

043229-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R5855 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107367784-107416346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107383707 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 294 (I294T)

Ref Sequence

ENSEMBL: ENSMUSP00000137180 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030357

Predicted Effect

probably benign
Transcript: ENSMUST00000125342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132950

Predicted Effect

probably damaging
Transcript: ENSMUST00000139560
AA Change: I294T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120365
Gene: ENSMUSG00000028614
AA Change: I294T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149366
AA Change: I294T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137180
Gene: ENSMUSG00000028614
AA Change: I294T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150800

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.3%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	G	7: 131,424,599	L57R	probably damaging	Het
Bmpr1b	G	A	3: 141,871,385	T55M	possibly damaging	Het
Cep350	G	A	1: 155,953,762	T132I	probably benign	Het
Cops4	A	T	5: 100,547,414	M400L	probably benign	Het
Cul1	G	A	6: 47,523,213	D653N	probably benign	Het
Cyp3a13	C	G	5: 137,919,056	L36F	probably damaging	Het
Dcaf10	T	C	4: 45,342,558	F131L	probably benign	Het
Dgkh	T	C	14: 78,624,504		probably null	Het
Igll1	C	T	16: 16,861,057	V130M	probably damaging	Het
Kif2c	C	T	4: 117,182,542		probably benign	Het
Klra7	T	C	6: 130,218,958	D262G	possibly damaging	Het
Lrrc27	T	C	7: 139,218,335		probably benign	Het
Maf	A	G	8: 115,705,792	S358P	probably benign	Het
Map1a	A	G	2: 121,303,674	D1419G	possibly damaging	Het
Map3k1	G	A	13: 111,755,979	A914V	probably benign	Het
Naa25	T	G	5: 121,423,692	L436R	possibly damaging	Het
Nek1	A	C	8: 61,016,272	D121A	probably damaging	Het
Nfil3	C	T	13: 52,968,710	G53R	probably benign	Het
Olfr63	T	C	17: 33,269,336	V204A	possibly damaging	Het
Parp14	A	T	16: 35,840,927	Y1550*	probably null	Het
Patl1	A	G	19: 11,921,516	I192V	probably damaging	Het
Pax3	G	A	1: 78,121,651	T367I	probably damaging	Het
Pla2g4a	C	T	1: 149,880,063	V208M	probably damaging	Het
Prdm10	A	T	9: 31,337,323	K347M	probably damaging	Het
Prkd1	A	T	12: 50,392,916	M376K	probably benign	Het
Prkg1	C	T	19: 30,894,694	V219I	possibly damaging	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Sox4	T	C	13: 28,952,996	E9G	probably damaging	Het
Spon1	T	A	7: 114,029,072	D354E	probably damaging	Het
Stat2	T	A	10: 128,283,494	L450H	probably damaging	Het
Tek	T	A	4: 94,853,553	M849K	probably damaging	Het
Tmem63c	G	A	12: 87,075,726	D433N	probably damaging	Het
Tnpo3	G	A	6: 29,589,033	T106I	probably damaging	Het
Tns1	G	T	1: 73,918,033	A1674D	possibly damaging	Het
Trim8	T	C	19: 46,515,410	V467A	possibly damaging	Het
Trmo	T	A	4: 46,382,568	H183L	probably benign	Het
Trpm1	C	A	7: 64,268,962	C683*	probably null	Het
Vsig10	T	G	5: 117,338,270	L263R	probably damaging	Het
Zfp874a	A	T	13: 67,442,693	Y291N	probably benign	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
R4036:Ndc1	UTSW	4	107411072	missense	probably benign	0.22
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
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
Z1176:Ndc1	UTSW	4	107386602	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAGCGCTCCAGTGAAGTACC -3'
(R):5'- GCTCTAAGTAAGCACGGTCAATAC -3'

Sequencing Primer
(F):5'- CTCCAGTGAAGTACCAGCAAGTAG -3'
(R):5'- CCACCCTGTTTAATTTGCAGAAAC -3'

Posted On

2017-02-10