Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01798:Ncam1'

155415

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncam1

Ensembl Gene

ENSMUSG00000039542

Gene Name

neural cell adhesion molecule 1

Synonyms

NCAM, NCAM-1, NCAM-120, E-NCAM, CD56, NCAM-140, NCAM-180

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

IGL01798

Quality Score

Status

Chromosome

Chromosomal Location

49413436-49710225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49419907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 804 (T804K)

Ref Sequence

ENSEMBL: ENSMUSP00000130668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166811] [ENSMUST00000193547]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000166811
AA Change: T804K

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

SMART Domains

Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: T804K

Domain	Start	End	E-Value	Type
IGc2	32	103	2.88e-4	SMART
IGc2	130	196	6.35e-6	SMART
IGc2	226	295	6.38e-20	SMART
IGc2	321	393	4.12e-14	SMART
IGc2	418	487	9.7e-11	SMART
FN3	501	586	4.77e-8	SMART
FN3	602	683	6.97e-1	SMART
transmembrane domain	706	728	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	814	830	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193547
AA Change: T803K

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: T803K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGc2	32	103	2.88e-4	SMART
IGc2	130	196	6.35e-6	SMART
IGc2	226	295	6.38e-20	SMART
IGc2	321	393	4.12e-14	SMART
IGc2	418	487	9.7e-11	SMART
FN3	501	586	4.77e-8	SMART
FN3	602	683	6.97e-1	SMART
transmembrane domain	706	728	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	814	830	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194252
AA Change: T776K

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and morphological and functional defects of neuromuscular junctions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,163,921 (GRCm39)	I818V	probably benign	Het
Adam22	A	C	5: 8,282,604 (GRCm39)		probably null	Het
Afap1	T	A	5: 36,093,026 (GRCm39)		probably null	Het
Aunip	G	T	4: 134,250,722 (GRCm39)	K222N	possibly damaging	Het
Ccnt1	A	G	15: 98,442,122 (GRCm39)	V382A	probably benign	Het
Clip1	T	C	5: 123,721,612 (GRCm39)	D1123G	probably damaging	Het
Cxcr1	T	A	1: 74,231,759 (GRCm39)	I88F	possibly damaging	Het
Duox2	A	C	2: 122,112,389 (GRCm39)	Y1266D	probably damaging	Het
Elk4	T	A	1: 131,945,592 (GRCm39)	S157T	possibly damaging	Het
Erc1	T	C	6: 119,597,298 (GRCm39)	T1004A	possibly damaging	Het
Fah	T	C	7: 84,238,837 (GRCm39)	N336S	probably benign	Het
Glg1	A	T	8: 111,919,332 (GRCm39)	S253T	possibly damaging	Het
Gm10377	A	T	14: 42,614,864 (GRCm39)	I167K	probably benign	Het
Hipk1	A	T	3: 103,668,875 (GRCm39)	I507N	probably damaging	Het
Hnf1a	T	C	5: 115,091,732 (GRCm39)	E357G	probably damaging	Het
Ighv1-22	A	T	12: 114,710,298 (GRCm39)	L10H	probably damaging	Het
Igkv6-23	A	G	6: 70,237,574 (GRCm39)	Y56H	probably damaging	Het
Lyrm9	A	G	11: 78,728,955 (GRCm39)	I56V	probably damaging	Het
Nfu1	T	A	6: 86,992,605 (GRCm39)	I73K	probably damaging	Het
Ruvbl2	A	G	7: 45,071,587 (GRCm39)	L432P	probably damaging	Het
Tcf3	T	C	10: 80,249,043 (GRCm39)	T527A	probably benign	Het
Tle1	T	C	4: 72,055,385 (GRCm39)	D432G	probably damaging	Het

Other mutations in Ncam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Ncam1	APN	9	49,434,865 (GRCm39)	missense	probably damaging	1.00
IGL01384:Ncam1	APN	9	49,421,152 (GRCm39)	missense	possibly damaging	0.76
IGL02239:Ncam1	APN	9	49,478,702 (GRCm39)	missense	probably damaging	1.00
IGL02368:Ncam1	APN	9	49,454,383 (GRCm39)	nonsense	probably null
IGL02616:Ncam1	APN	9	49,419,988 (GRCm39)	missense	probably benign	0.23
PIT4431001:Ncam1	UTSW	9	49,709,993 (GRCm39)	missense	probably benign	0.04
R0164:Ncam1	UTSW	9	49,479,709 (GRCm39)	missense	probably damaging	1.00
R0164:Ncam1	UTSW	9	49,479,709 (GRCm39)	missense	probably damaging	1.00
R0502:Ncam1	UTSW	9	49,481,118 (GRCm39)	unclassified	probably benign
R0924:Ncam1	UTSW	9	49,473,476 (GRCm39)	intron	probably benign
R1398:Ncam1	UTSW	9	49,428,889 (GRCm39)	intron	probably benign
R1440:Ncam1	UTSW	9	49,456,100 (GRCm39)	missense	probably damaging	1.00
R1491:Ncam1	UTSW	9	49,416,849 (GRCm39)	missense	probably benign	0.15
R1676:Ncam1	UTSW	9	49,468,472 (GRCm39)	missense	probably damaging	1.00
R1743:Ncam1	UTSW	9	49,468,445 (GRCm39)	missense	probably damaging	1.00
R1769:Ncam1	UTSW	9	49,456,556 (GRCm39)	unclassified	probably benign
R1951:Ncam1	UTSW	9	49,456,492 (GRCm39)	missense	probably benign	0.36
R2143:Ncam1	UTSW	9	49,454,319 (GRCm39)	missense	possibly damaging	0.87
R2167:Ncam1	UTSW	9	49,479,781 (GRCm39)	missense	probably benign	0.42
R2170:Ncam1	UTSW	9	49,709,981 (GRCm39)	missense	probably benign	0.06
R2290:Ncam1	UTSW	9	49,434,951 (GRCm39)	splice site	probably benign
R2321:Ncam1	UTSW	9	49,456,132 (GRCm39)	unclassified	probably benign
R3001:Ncam1	UTSW	9	49,468,526 (GRCm39)	missense	probably damaging	0.99
R3002:Ncam1	UTSW	9	49,468,526 (GRCm39)	missense	probably damaging	0.99
R4026:Ncam1	UTSW	9	49,476,295 (GRCm39)	missense	probably benign	0.00
R4279:Ncam1	UTSW	9	49,418,259 (GRCm39)	intron	probably benign
R4289:Ncam1	UTSW	9	49,468,472 (GRCm39)	missense	probably damaging	1.00
R4873:Ncam1	UTSW	9	49,418,921 (GRCm39)	intron	probably benign
R4875:Ncam1	UTSW	9	49,418,921 (GRCm39)	intron	probably benign
R4883:Ncam1	UTSW	9	49,453,183 (GRCm39)	splice site	probably null
R4899:Ncam1	UTSW	9	49,456,551 (GRCm39)	critical splice acceptor site	probably null
R4923:Ncam1	UTSW	9	49,416,779 (GRCm39)	missense	probably benign
R5041:Ncam1	UTSW	9	49,478,085 (GRCm39)	missense	probably damaging	1.00
R5058:Ncam1	UTSW	9	49,709,995 (GRCm39)	missense	probably benign	0.16
R5386:Ncam1	UTSW	9	49,476,174 (GRCm39)	missense	probably damaging	1.00
R5388:Ncam1	UTSW	9	49,456,054 (GRCm39)	missense	probably benign
R5512:Ncam1	UTSW	9	49,420,999 (GRCm39)	splice site	probably null
R5598:Ncam1	UTSW	9	49,457,051 (GRCm39)	missense	probably damaging	1.00
R5895:Ncam1	UTSW	9	49,418,343 (GRCm39)	missense	probably benign
R5972:Ncam1	UTSW	9	49,418,829 (GRCm39)	missense	possibly damaging	0.93
R6059:Ncam1	UTSW	9	49,455,966 (GRCm39)	missense	probably damaging	1.00
R6226:Ncam1	UTSW	9	49,476,304 (GRCm39)	missense	probably benign	0.00
R6392:Ncam1	UTSW	9	49,434,875 (GRCm39)	missense	probably damaging	0.99
R6750:Ncam1	UTSW	9	49,478,639 (GRCm39)	missense	probably damaging	1.00
R6799:Ncam1	UTSW	9	49,419,911 (GRCm39)	missense	probably damaging	0.99
R7230:Ncam1	UTSW	9	49,421,123 (GRCm39)	missense	probably benign	0.00
R7335:Ncam1	UTSW	9	49,418,211 (GRCm39)	missense
R7561:Ncam1	UTSW	9	49,476,242 (GRCm39)	missense	probably damaging	1.00
R7645:Ncam1	UTSW	9	49,476,303 (GRCm39)	missense	probably benign	0.01
R8022:Ncam1	UTSW	9	49,476,192 (GRCm39)	missense	possibly damaging	0.72
R8023:Ncam1	UTSW	9	49,421,057 (GRCm39)	missense	probably benign	0.00
R8045:Ncam1	UTSW	9	49,418,736 (GRCm39)	missense
R8234:Ncam1	UTSW	9	49,456,523 (GRCm39)	missense	probably damaging	0.99
R8308:Ncam1	UTSW	9	49,479,817 (GRCm39)	missense	probably damaging	0.99
R8370:Ncam1	UTSW	9	49,468,431 (GRCm39)	nonsense	probably null
R8500:Ncam1	UTSW	9	49,431,445 (GRCm39)	missense	probably damaging	1.00
R8542:Ncam1	UTSW	9	49,419,898 (GRCm39)	missense	probably damaging	1.00
R8944:Ncam1	UTSW	9	49,431,493 (GRCm39)	missense	probably damaging	1.00
R8977:Ncam1	UTSW	9	49,418,825 (GRCm39)	missense	probably damaging	1.00
R9028:Ncam1	UTSW	9	49,418,736 (GRCm39)	missense
R9034:Ncam1	UTSW	9	49,481,198 (GRCm39)	missense	probably benign	0.42
R9106:Ncam1	UTSW	9	49,428,856 (GRCm39)	missense	probably damaging	0.99
R9224:Ncam1	UTSW	9	49,419,995 (GRCm39)	missense	probably damaging	1.00
R9330:Ncam1	UTSW	9	49,456,097 (GRCm39)	missense	probably benign
X0062:Ncam1	UTSW	9	49,456,901 (GRCm39)	nonsense	probably null
X0064:Ncam1	UTSW	9	49,477,980 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04