Mutagenetix > Incidental Mutation

Incidental Mutation 'R2926:Ncln'

255768

Institutional Source

Beutler Lab

Gene Symbol

Ncln

Ensembl Gene

ENSMUSG00000020238

Gene Name

nicalin

Synonyms

3100002P13Rik

MMRRC Submission

040511-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R2926 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

81322083-81332226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81324272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 442 (T442K)

Ref Sequence

ENSEMBL: ENSMUSP00000020463 (fasta)

Gene Model

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

AlphaFold

Q8VCM8

Predicted Effect

probably benign
Transcript: ENSMUST00000020463
AA Change: T442K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: T442K

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: T442K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: T442K

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: ENSMUST00000124437

SMART Domains

Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238

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: ENSMUST00000151680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151701

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,902 (GRCm39)	S438R	possibly damaging	Het
Add3	A	G	19: 53,215,253 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,902,137 (GRCm39)	L506P	probably damaging	Het
Atp6v0a1	A	T	11: 100,934,774 (GRCm39)	I621L	probably damaging	Het
Calb1	T	G	4: 15,904,302 (GRCm39)	L218R	probably damaging	Het
Ccdc162	G	A	10: 41,437,203 (GRCm39)		probably benign	Het
Ccser2	A	T	14: 36,601,518 (GRCm39)	S842T	possibly damaging	Het
Cd300a	A	G	11: 114,784,139 (GRCm39)	E49G	possibly damaging	Het
Colec11	T	A	12: 28,667,428 (GRCm39)	Q37L	probably damaging	Het
D630045J12Rik	T	A	6: 38,145,106 (GRCm39)	I1307F	probably damaging	Het
Dapk1	T	C	13: 60,867,564 (GRCm39)	V257A	possibly damaging	Het
Dnah3	T	A	7: 119,550,338 (GRCm39)	N3327I	probably damaging	Het
Gja8	C	T	3: 96,826,469 (GRCm39)	V398I	probably benign	Het
Hfm1	A	T	5: 107,022,148 (GRCm39)	L179*	probably null	Het
Hsd3b9	A	G	3: 98,357,872 (GRCm39)		probably benign	Het
Ift88	T	C	14: 57,726,375 (GRCm39)	Y678H	probably damaging	Het
Itga10	A	G	3: 96,560,165 (GRCm39)	N560D	probably damaging	Het
Itpk1	G	T	12: 102,545,389 (GRCm39)	P238Q	probably damaging	Het
Kl	T	C	5: 150,876,806 (GRCm39)	W209R	probably damaging	Het
Lama4	A	G	10: 38,954,828 (GRCm39)	N1127S	probably benign	Het
Lrp1	C	T	10: 127,423,982 (GRCm39)	C830Y	probably damaging	Het
Mcmbp	G	A	7: 128,299,738 (GRCm39)		probably benign	Het
Mrps33	A	G	6: 39,782,438 (GRCm39)	S28P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Myt1	C	T	2: 181,467,803 (GRCm39)	T1079M	possibly damaging	Het
N4bp1	A	T	8: 87,588,424 (GRCm39)	Y171*	probably null	Het
Nphp4	T	C	4: 152,602,596 (GRCm39)	V390A	probably damaging	Het
Ntrk2	C	A	13: 59,208,098 (GRCm39)	T648K	probably damaging	Het
Nwd1	A	G	8: 73,393,640 (GRCm39)	H301R	probably damaging	Het
Or4k5	A	T	14: 50,385,893 (GRCm39)	V146E	probably benign	Het
Pcdh12	T	C	18: 38,415,443 (GRCm39)	N561D	probably damaging	Het
Pcnx1	T	A	12: 82,041,769 (GRCm39)	S2134T	probably damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Pramel3e	G	T	X: 134,400,297 (GRCm39)	A96S	possibly damaging	Het
Prrc2c	C	T	1: 162,533,696 (GRCm39)		probably benign	Het
Rabggta	C	T	14: 55,956,747 (GRCm39)	R319H	probably benign	Het
Scn10a	A	C	9: 119,467,767 (GRCm39)	F791C	possibly damaging	Het
Stab1	T	A	14: 30,883,756 (GRCm39)	D267V	probably damaging	Het
Sva	A	T	6: 42,019,596 (GRCm39)	Y152F	possibly damaging	Het
Tgfbrap1	T	G	1: 43,114,789 (GRCm39)	M104L	probably damaging	Het
Tmed4	T	C	11: 6,221,728 (GRCm39)	T203A	probably benign	Het
Toe1	C	T	4: 116,662,177 (GRCm39)	A331T	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm7	T	C	2: 126,700,329 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,636,170 (GRCm39)	R438*	probably null	Het
Usp11	G	T	X: 20,584,031 (GRCm39)	G601W	probably damaging	Het
Vmn2r112	A	G	17: 22,833,984 (GRCm39)	T551A	possibly damaging	Het
Vmn2r73	T	C	7: 85,520,871 (GRCm39)	K366E	probably benign	Het
Vps33a	A	G	5: 123,707,634 (GRCm39)	I111T	possibly damaging	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
R1203:Ncln	UTSW	10	81,332,027 (GRCm39)	missense	possibly damaging	0.48
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
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'- AATGTCCCGTCCTTGTCGAG -3'
(R):5'- ATTGCCTACCTTGCCTGAG -3'

Sequencing Primer
(F):5'- CGTCCTTGTCGAGAAGCTG -3'
(R):5'- GAGCTTGGCCCTGTATCTCCAAG -3'

Posted On

2014-12-29