Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Ncln'

477870

Institutional Source

Beutler Lab

Gene Symbol

Ncln

Ensembl Gene

ENSMUSG00000020238

Gene Name

nicalin

Synonyms

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R3112 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

81486249-81496392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81487685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 51 (V51I)

Ref Sequence

ENSEMBL: ENSMUSP00000115235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020463] [ENSMUST00000118498] [ENSMUST00000118763] [ENSMUST00000124437]

AlphaFold

Q8VCM8

Predicted Effect

probably benign
Transcript: ENSMUST00000020463
AA Change: V543I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: V543I

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	160	172	N/A	INTRINSIC
Pfam:Peptidase_M28	205	421	1.8e-13	PFAM
Pfam:Nicastrin	217	411	2.1e-9	PFAM
transmembrane domain	521	543	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118498
AA Change: V542I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: V542I

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	160	172	N/A	INTRINSIC
Pfam:Peptidase_M28	217	395	3.9e-12	PFAM
Pfam:Nicastrin	217	411	1.5e-10	PFAM
transmembrane domain	520	542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118763

SMART Domains

Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818

Domain	Start	End	E-Value	Type
RRM	8	84	7.41e-18	SMART
RRM	97	172	3.23e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124437
AA Change: V51I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238
AA Change: V51I

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153205

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	Het

Other mutations in Ncln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Ncln	APN	10	81488596	missense	probably benign
IGL03012:Ncln	APN	10	81489965	missense	probably benign	0.04
oxygen	UTSW	10	81493153	missense	possibly damaging	0.94
trilobite	UTSW	10	81490284	missense	probably damaging	1.00
R0399:Ncln	UTSW	10	81488297	missense	probably damaging	1.00
R1203:Ncln	UTSW	10	81496193	missense	possibly damaging	0.48
R1436:Ncln	UTSW	10	81489893	missense	probably damaging	0.98
R1664:Ncln	UTSW	10	81487721	missense	probably benign	0.19
R2356:Ncln	UTSW	10	81492922	missense	probably benign	0.01
R2926:Ncln	UTSW	10	81488438	missense	probably benign	0.09
R3110:Ncln	UTSW	10	81487685	missense	probably benign	0.07
R3111:Ncln	UTSW	10	81487685	missense	probably benign	0.07
R4661:Ncln	UTSW	10	81493068	missense	probably damaging	0.98
R5910:Ncln	UTSW	10	81496078	critical splice donor site	probably null
R6359:Ncln	UTSW	10	81490284	missense	probably damaging	1.00
R6809:Ncln	UTSW	10	81487678	critical splice donor site	probably null
R7141:Ncln	UTSW	10	81487849	nonsense	probably null
R7145:Ncln	UTSW	10	81488252	missense	probably benign	0.09
R7966:Ncln	UTSW	10	81490269	nonsense	probably null
R8110:Ncln	UTSW	10	81493153	missense	possibly damaging	0.94
R8355:Ncln	UTSW	10	81487869	missense	probably damaging	1.00
R8911:Ncln	UTSW	10	81487685	missense	probably benign	0.07
R9211:Ncln	UTSW	10	81487693	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-15