Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Neo1'

350981

Institutional Source

Beutler Lab

Gene Symbol

Neo1

Ensembl Gene

ENSMUSG00000032340

Gene Name

neogenin

Synonyms

2610028H22Rik, D930014N22Rik, Igdcc2

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58874687-59036441 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58889041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1201 (I1201T)

Ref Sequence

ENSEMBL: ENSMUSP00000150600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068664
AA Change: I1228T

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: I1228T

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
IGc2	76	147	9.49e-5	SMART
IGc2	175	239	4.43e-5	SMART
IGc2	272	338	6.15e-13	SMART
IGc2	364	428	7.76e-10	SMART
low complexity region	446	458	N/A	INTRINSIC
FN3	470	553	8.23e-12	SMART
FN3	570	649	1.78e-16	SMART
FN3	665	749	1.54e-11	SMART
FN3	770	849	5.27e-10	SMART
FN3	885	970	7.63e-7	SMART
FN3	986	1072	2.78e-9	SMART
transmembrane domain	1136	1158	N/A	INTRINSIC
Pfam:Neogenin_C	1189	1492	1.9e-122	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214547
AA Change: I1201T

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215165

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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 surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	Het

Other mutations in Neo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Neo1	APN	9	58921919	splice site	probably benign
IGL00885:Neo1	APN	9	58888463	missense	probably damaging	1.00
IGL01103:Neo1	APN	9	58880799	missense	possibly damaging	0.60
IGL01322:Neo1	APN	9	58907085	missense	possibly damaging	0.68
IGL02216:Neo1	APN	9	58917053	missense	probably damaging	0.96
IGL02327:Neo1	APN	9	58903088	missense	probably benign	0.08
IGL02392:Neo1	APN	9	58925811	missense	possibly damaging	0.49
IGL02458:Neo1	APN	9	58893867	splice site	probably benign
IGL03057:Neo1	APN	9	58878059	missense	probably damaging	1.00
IGL03091:Neo1	APN	9	58978668	missense	probably damaging	0.98
IGL03193:Neo1	APN	9	58908484	missense	probably damaging	1.00
R0097:Neo1	UTSW	9	58882021	intron	probably benign
R0419:Neo1	UTSW	9	58990180	splice site	probably benign
R0571:Neo1	UTSW	9	58985786	missense	probably benign
R0646:Neo1	UTSW	9	58931034	missense	probably damaging	1.00
R0736:Neo1	UTSW	9	58917081	missense	possibly damaging	0.78
R0739:Neo1	UTSW	9	58921877	missense	probably benign	0.22
R1636:Neo1	UTSW	9	58913277	missense	probably damaging	1.00
R1694:Neo1	UTSW	9	58880603	missense	probably damaging	1.00
R1827:Neo1	UTSW	9	58917031	nonsense	probably null
R1927:Neo1	UTSW	9	58990385	missense	probably benign	0.12
R2354:Neo1	UTSW	9	58985634	missense	probably benign
R2365:Neo1	UTSW	9	58956003	missense	probably benign
R3156:Neo1	UTSW	9	58888979	splice site	probably null
R3552:Neo1	UTSW	9	58893878	missense	probably damaging	1.00
R3829:Neo1	UTSW	9	58913169	missense	possibly damaging	0.58
R4477:Neo1	UTSW	9	58877299	missense	probably damaging	0.99
R5023:Neo1	UTSW	9	58990271	missense	probably damaging	1.00
R5046:Neo1	UTSW	9	58893911	missense	possibly damaging	0.77
R5057:Neo1	UTSW	9	58990271	missense	probably damaging	1.00
R5323:Neo1	UTSW	9	58906648	critical splice donor site	probably null
R5394:Neo1	UTSW	9	58990234	missense	probably benign	0.10
R5470:Neo1	UTSW	9	58931067	missense	probably damaging	1.00
R5473:Neo1	UTSW	9	58880843	missense	possibly damaging	0.88
R5500:Neo1	UTSW	9	58917054	missense	possibly damaging	0.94
R5503:Neo1	UTSW	9	58985650	missense	possibly damaging	0.67
R6122:Neo1	UTSW	9	58917008	missense	probably benign
R6191:Neo1	UTSW	9	58889029	missense	probably damaging	1.00
R6431:Neo1	UTSW	9	58907071	missense	probably benign	0.27
R6560:Neo1	UTSW	9	58880601	missense	possibly damaging	0.95
R6658:Neo1	UTSW	9	58921849	missense	probably benign	0.14
R6772:Neo1	UTSW	9	58902976	missense	probably damaging	1.00
R6912:Neo1	UTSW	9	58917052	missense	probably benign	0.00
R7061:Neo1	UTSW	9	58990441	missense	possibly damaging	0.95
R7145:Neo1	UTSW	9	58889179	missense	probably damaging	1.00
R7156:Neo1	UTSW	9	58902923	missense	probably damaging	1.00
R7485:Neo1	UTSW	9	58884543	missense	probably benign	0.04
R7519:Neo1	UTSW	9	58878065	missense	probably benign	0.13
R7615:Neo1	UTSW	9	58884503	missense	probably benign	0.07
R7665:Neo1	UTSW	9	58925795	missense	probably damaging	1.00
R7695:Neo1	UTSW	9	58902929	missense	possibly damaging	0.81
R7753:Neo1	UTSW	9	58956005	missense	probably benign	0.00
R7807:Neo1	UTSW	9	58990494	missense	probably benign	0.01
R7915:Neo1	UTSW	9	58930981	missense	probably benign	0.42
R7973:Neo1	UTSW	9	58990193	missense	probably damaging	1.00
R8356:Neo1	UTSW	9	58878119	missense	probably damaging	1.00
R8505:Neo1	UTSW	9	58913283	missense	probably benign	0.02
R8700:Neo1	UTSW	9	58918630	missense	probably benign	0.28
R8798:Neo1	UTSW	9	58913166	missense	probably damaging	1.00
R8952:Neo1	UTSW	9	58990262	missense	probably benign	0.01
R9779:Neo1	UTSW	9	58978726	nonsense	probably null
R9784:Neo1	UTSW	9	58982220	missense	probably benign
R9789:Neo1	UTSW	9	58894024	critical splice acceptor site	probably null
X0063:Neo1	UTSW	9	58990298	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TAGAAGGCTGTTCCTAAATGATCC -3'
(R):5'- TGTGCCTAGGAAACGAGCTG -3'

Sequencing Primer
(F):5'- GGCTGTTCCTAAATGATCCATAACC -3'
(R):5'- GCTGCGTGCAAATCAGTG -3'

Posted On

2015-10-08