Mutagenetix > Incidental Mutation

Incidental Mutation 'R8355:Ncln'

660290

Institutional Source

Beutler Lab

Gene Symbol

Ncln

Ensembl Gene

ENSMUSG00000020238

Gene Name

nicalin

Synonyms

3100002P13Rik

MMRRC Submission

067869-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R8355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81322083-81332226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81323703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 511 (K511E)

Ref Sequence

ENSEMBL: ENSMUSP00000020463 (fasta)

Gene Model

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

AlphaFold

Q8VCM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020463
AA Change: K511E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: K511E

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

possibly damaging
Transcript: ENSMUST00000118498
AA Change: K510E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: K510E

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
AA Change: K19E

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238
AA Change: K19E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,638,478 (GRCm39)	H145Q	probably benign	Het
Acsf2	A	T	11: 94,461,450 (GRCm39)	M293K	probably benign	Het
Ak9	G	A	10: 41,275,700 (GRCm39)	R1112Q		Het
Ano8	T	C	8: 71,933,210 (GRCm39)		probably benign	Het
Ap3b2	A	T	7: 81,122,851 (GRCm39)	V462E	probably damaging	Het
Arid1a	T	C	4: 133,448,174 (GRCm39)	Q498R	unknown	Het
AW011738	C	A	4: 156,287,837 (GRCm39)		probably benign	Het
Bhlhe41	T	A	6: 145,811,028 (GRCm39)		probably null	Het
Bnc1	A	C	7: 81,618,624 (GRCm39)	S814A	probably damaging	Het
Bnip5	T	A	17: 29,122,249 (GRCm39)	Q414L	probably damaging	Het
Cage1	A	T	13: 38,203,225 (GRCm39)	L613H	probably damaging	Het
Camk1g	T	C	1: 193,033,355 (GRCm39)	I231V	probably damaging	Het
Catspere2	T	C	1: 177,845,276 (GRCm39)	Y99H	possibly damaging	Het
Ccdc50	A	G	16: 27,236,101 (GRCm39)	Y145C	probably benign	Het
Cdcp1	A	G	9: 123,002,888 (GRCm39)	S728P	probably benign	Het
Chrm3	A	T	13: 9,928,646 (GRCm39)	M130K	probably damaging	Het
Csf1r	T	C	18: 61,261,222 (GRCm39)	F766S	probably damaging	Het
Dact3	A	G	7: 16,617,125 (GRCm39)	D108G	probably damaging	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	C	17: 30,914,152 (GRCm39)	L1099F	possibly damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gk5	T	C	9: 96,032,839 (GRCm39)	V274A	possibly damaging	Het
Gnpat	T	C	8: 125,597,579 (GRCm39)	F47S	probably benign	Het
Gsap	G	T	5: 21,456,017 (GRCm39)	G374*	probably null	Het
Gtf2h2	A	T	13: 100,605,503 (GRCm39)	F368Y	possibly damaging	Het
Gvin1	A	T	7: 105,757,312 (GRCm39)	W2386R	possibly damaging	Het
Ighe	A	T	12: 113,235,167 (GRCm39)	L331*	probably null	Het
Iqank1	C	A	15: 75,906,073 (GRCm39)	Q87K	probably benign	Het
Itch	T	A	2: 155,052,502 (GRCm39)		probably null	Het
Lars2	G	A	9: 123,283,780 (GRCm39)	A683T	probably damaging	Het
Lin7a	C	T	10: 107,218,497 (GRCm39)	R14C	probably damaging	Het
Lrp2	C	T	2: 69,346,828 (GRCm39)	S806N	probably damaging	Het
Lrrc8e	T	A	8: 4,284,018 (GRCm39)	M81K	probably benign	Het
Mcm3ap	C	A	10: 76,329,335 (GRCm39)	T1172K	probably benign	Het
Mrm3	A	T	11: 76,141,164 (GRCm39)	M391L	possibly damaging	Het
Myo9a	T	C	9: 59,817,130 (GRCm39)	S2278P	probably damaging	Het
Or2y17	G	T	11: 49,231,592 (GRCm39)	V78L	possibly damaging	Het
Or8b101	A	G	9: 38,020,258 (GRCm39)	K87R	probably benign	Het
Pcdhb10	G	T	18: 37,545,134 (GRCm39)	G70V	probably damaging	Het
Phf24	A	G	4: 42,933,735 (GRCm39)	E39G	probably benign	Het
Plat	C	A	8: 23,261,758 (GRCm39)	S52*	probably null	Het
Pramel52-ps	T	C	5: 94,531,772 (GRCm39)	C219R	probably damaging	Het
Ptpru	C	A	4: 131,535,811 (GRCm39)	G389C	probably damaging	Het
Rnpep	T	C	1: 135,195,005 (GRCm39)	D407G	probably damaging	Het
Rttn	G	A	18: 89,047,016 (GRCm39)	V893I	probably benign	Het
Slit1	A	G	19: 41,634,473 (GRCm39)	L428P	probably damaging	Het
Tet1	T	A	10: 62,652,229 (GRCm39)	L1596F	possibly damaging	Het
Thsd7b	T	C	1: 129,523,616 (GRCm39)	C140R	probably damaging	Het
Usp17le	A	T	7: 104,418,752 (GRCm39)	M130K	possibly damaging	Het
Vmn2r92	T	G	17: 18,405,061 (GRCm39)	I735S	probably damaging	Het
Zbtb42	A	T	12: 112,645,969 (GRCm39)	Y48F	probably damaging	Het
Zbtb43	C	T	2: 33,345,120 (GRCm39)	G35D	possibly damaging	Het
Zfp1005	T	A	2: 150,109,876 (GRCm39)	C189S	unknown	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
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
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'- GTGTACGCCATGCCAAGGTATG -3'
(R):5'- GAGTTTCTAGTCCCCTTGGC -3'

Sequencing Primer
(F):5'- TGCCAAGGTATGCCCCAATG -3'
(R):5'- AGCTTCCTGAATTGAGCTCTC -3'

Posted On

2021-01-18