Mutagenetix > Incidental Mutation

Incidental Mutation 'R1203:Ncln'

100269

Institutional Source

Beutler Lab

Gene Symbol

Ncln

Ensembl Gene

ENSMUSG00000020238

Gene Name

nicalin

Synonyms

3100002P13Rik

MMRRC Submission

039273-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R1203 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

81322083-81332226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81332027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 24 (V24A)

Ref Sequence

ENSEMBL: ENSMUSP00000112744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020463] [ENSMUST00000053646] [ENSMUST00000118498]

AlphaFold

Q8VCM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020463
AA Change: V24A

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: V24A

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: ENSMUST00000053646

SMART Domains

Protein: ENSMUSP00000050412
Gene: ENSMUSG00000044199

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
Pfam:7tm_1	66	309	1.2e-32	PFAM
low complexity region	324	337	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118498
AA Change: V24A

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: V24A

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

noncoding transcript
Transcript: ENSMUST00000151680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153205

Meta Mutation Damage Score

0.1085

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 89.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Aadacl3	T	C	4: 144,190,140 (GRCm39)	T54A	probably benign	Het
Adcy8	A	G	15: 64,618,780 (GRCm39)	I791T	probably damaging	Het
Aldh1b1	A	G	4: 45,803,359 (GRCm39)	D299G	probably damaging	Het
Aoah	A	G	13: 21,000,764 (GRCm39)	E66G	probably damaging	Het
Atl2	G	T	17: 80,160,334 (GRCm39)	H418N	probably damaging	Het
Atp6v1d	A	G	12: 78,908,214 (GRCm39)	I7T	possibly damaging	Het
Calhm3	C	T	19: 47,143,839 (GRCm39)	V155M	probably damaging	Het
Carmil1	A	T	13: 24,282,989 (GRCm39)	I105K	probably damaging	Het
Csrp3	C	A	7: 48,489,278 (GRCm39)	M1I	probably null	Het
Dnah10	T	A	5: 124,837,078 (GRCm39)		probably null	Het
Dnah11	T	C	12: 117,897,547 (GRCm39)	N3561S	possibly damaging	Het
Dzip3	A	T	16: 48,772,180 (GRCm39)	D496E	probably damaging	Het
Eif2ak1	T	C	5: 143,820,797 (GRCm39)	V246A	probably benign	Het
Fam171b	T	A	2: 83,643,313 (GRCm39)	V74E	probably benign	Het
Gm14137	C	T	2: 119,005,605 (GRCm39)	R55W	probably damaging	Het
Gm4950	T	C	18: 51,998,830 (GRCm39)	I42V	probably benign	Het
Gpr35	T	C	1: 92,910,870 (GRCm39)	V194A	probably damaging	Het
Kdm5d	C	T	Y: 941,011 (GRCm39)	S1132F	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Nphp4	A	G	4: 152,573,289 (GRCm39)	K76E	probably damaging	Het
Nsf	CAATAATAATAATAATA	CAATAATAATAATAATAATA	11: 103,816,952 (GRCm39)		probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or52h2	A	T	7: 103,839,060 (GRCm39)	L118*	probably null	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pcbd2	G	A	13: 55,880,881 (GRCm39)		probably null	Het
Rapgef6	T	A	11: 54,582,525 (GRCm39)	V1479D	probably benign	Het
Rnf43	T	C	11: 87,618,301 (GRCm39)		probably benign	Het
Robo3	A	G	9: 37,329,978 (GRCm39)	W1113R	probably damaging	Het
Sall1	A	T	8: 89,758,562 (GRCm39)	V514E	probably damaging	Het
Sgpp1	A	G	12: 75,763,056 (GRCm39)	I375T	probably benign	Het
Strc	T	C	2: 121,202,604 (GRCm39)	N1187S	possibly damaging	Het
Tbc1d17	G	A	7: 44,492,895 (GRCm39)	R363W	probably damaging	Het
Tbcd	A	G	11: 121,366,451 (GRCm39)	Q242R	probably benign	Het
Tbcel	A	C	9: 42,362,947 (GRCm39)	V50G	probably damaging	Het
Tead3	C	T	17: 28,560,536 (GRCm39)	A23T	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tlcd5	A	G	9: 43,022,775 (GRCm39)	V193A	probably benign	Het
Tmem241	G	T	18: 12,217,035 (GRCm39)		probably benign	Het
Tmtc3	G	T	10: 100,312,606 (GRCm39)	T79K	probably damaging	Het
Utrn	A	G	10: 12,362,281 (GRCm39)	V241A	probably damaging	Het
Vps8	A	T	16: 21,330,307 (GRCm39)	I729F	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Ncln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Ncln	APN	10	81,324,430 (GRCm39)	missense	probably benign
IGL03012:Ncln	APN	10	81,325,799 (GRCm39)	missense	probably benign	0.04
oxygen	UTSW	10	81,328,987 (GRCm39)	missense	possibly damaging	0.94
trilobite	UTSW	10	81,326,118 (GRCm39)	missense	probably damaging	1.00
R0399:Ncln	UTSW	10	81,324,131 (GRCm39)	missense	probably damaging	1.00
R1436:Ncln	UTSW	10	81,325,727 (GRCm39)	missense	probably damaging	0.98
R1664:Ncln	UTSW	10	81,323,555 (GRCm39)	missense	probably benign	0.19
R2356:Ncln	UTSW	10	81,328,756 (GRCm39)	missense	probably benign	0.01
R2926:Ncln	UTSW	10	81,324,272 (GRCm39)	missense	probably benign	0.09
R3110:Ncln	UTSW	10	81,323,519 (GRCm39)	missense	probably benign	0.07
R3111:Ncln	UTSW	10	81,323,519 (GRCm39)	missense	probably benign	0.07
R3112:Ncln	UTSW	10	81,323,519 (GRCm39)	missense	probably benign	0.07
R4661:Ncln	UTSW	10	81,328,902 (GRCm39)	missense	probably damaging	0.98
R5910:Ncln	UTSW	10	81,331,912 (GRCm39)	critical splice donor site	probably null
R6359:Ncln	UTSW	10	81,326,118 (GRCm39)	missense	probably damaging	1.00
R6809:Ncln	UTSW	10	81,323,512 (GRCm39)	critical splice donor site	probably null
R7141:Ncln	UTSW	10	81,323,683 (GRCm39)	nonsense	probably null
R7145:Ncln	UTSW	10	81,324,086 (GRCm39)	missense	probably benign	0.09
R7966:Ncln	UTSW	10	81,326,103 (GRCm39)	nonsense	probably null
R8110:Ncln	UTSW	10	81,328,987 (GRCm39)	missense	possibly damaging	0.94
R8355:Ncln	UTSW	10	81,323,703 (GRCm39)	missense	probably damaging	1.00
R8911:Ncln	UTSW	10	81,323,519 (GRCm39)	missense	probably benign	0.07
R9211:Ncln	UTSW	10	81,323,527 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGCCAGGAACAGTAAGTCAATG -3'
(R):5'- GAGGCTCGCTCACAAGAAAGACTAC -3'

Sequencing Primer
(F):5'- GAGTTCCTCTGCCTGACAGTG -3'
(R):5'- TACATTTCCCAGAAGGCGG -3'

Posted On

2014-01-15