Mutagenetix > Incidental Mutation

Incidental Mutation 'R9789:Neo1'

734536

Institutional Source

Beutler Lab

Gene Symbol

Neo1

Ensembl Gene

ENSMUSG00000032340

Gene Name

neogenin

Synonyms

2610028H22Rik, D930014N22Rik, Igdcc2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58781970-58943724 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 58801307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063656 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000068664

SMART Domains

Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340

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

probably null
Transcript: ENSMUST00000068664

SMART Domains

Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340

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

probably benign
Transcript: ENSMUST00000214547

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,231,357 (GRCm39)	S1038R	probably benign	Het
Aar2	T	C	2: 156,392,745 (GRCm39)	F45L	probably damaging	Het
Abcg2	A	G	6: 58,641,533 (GRCm39)	Y122C	probably damaging	Het
Arfgef1	A	T	1: 10,243,427 (GRCm39)	W1041R	probably damaging	Het
Ash1l	A	G	3: 88,873,373 (GRCm39)	N52S	probably benign	Het
Asrgl1	T	A	19: 9,093,974 (GRCm39)	T185S	probably damaging	Het
Astl	T	A	2: 127,192,146 (GRCm39)	S234T	probably damaging	Het
Atp5mf	T	C	5: 145,120,656 (GRCm39)	Y87C	probably damaging	Het
Atxn7l1	A	T	12: 33,396,062 (GRCm39)	R264W	probably damaging	Het
Axin2	T	C	11: 108,840,180 (GRCm39)	Y828H	probably damaging	Het
Bnipl	T	C	3: 95,153,140 (GRCm39)	D145G	possibly damaging	Het
C8b	A	T	4: 104,640,191 (GRCm39)	M165L	probably benign	Het
Cd109	T	C	9: 78,541,944 (GRCm39)	L87P	possibly damaging	Het
Cdk17	C	T	10: 93,060,891 (GRCm39)	P232S	probably damaging	Het
Cnot1	T	C	8: 96,455,772 (GRCm39)	E1995G	probably damaging	Het
Csf2rb2	G	A	15: 78,169,196 (GRCm39)	A653V	probably benign	Het
Cutc	A	G	19: 43,756,699 (GRCm39)	N264D	probably benign	Het
Cxcr4	C	T	1: 128,516,884 (GRCm39)	W259*	probably null	Het
Dnah8	T	C	17: 30,980,104 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,367,937 (GRCm39)	I652T	probably benign	Het
Dstyk	A	T	1: 132,381,859 (GRCm39)	M538L	probably benign	Het
Eppk1	T	A	15: 75,993,219 (GRCm39)	I1221F	probably benign	Het
Ern2	T	A	7: 121,769,485 (GRCm39)	Y847F	probably damaging	Het
Exosc7	T	A	9: 122,959,990 (GRCm39)	V197D	probably damaging	Het
Gabra1	T	C	11: 42,024,352 (GRCm39)	Y441C	probably damaging	Het
Garem1	G	A	18: 21,262,985 (GRCm39)	P610S	possibly damaging	Het
Garem2	T	A	5: 30,319,330 (GRCm39)	V264E	probably damaging	Het
Gata2	G	A	6: 88,177,272 (GRCm39)	G101S	probably benign	Het
Gcnt4	A	G	13: 97,083,429 (GRCm39)	T242A	probably benign	Het
Ghitm	A	C	14: 36,852,719 (GRCm39)	Y120*	probably null	Het
Gimap7	A	G	6: 48,700,470 (GRCm39)	S19G	probably damaging	Het
Gm5475	G	A	15: 100,324,881 (GRCm39)	G103E	unknown	Het
Gstcd	A	T	3: 132,790,357 (GRCm39)	C137S	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Hfm1	T	C	5: 107,065,346 (GRCm39)	D111G	probably benign	Het
Ighg2b	A	G	12: 113,270,304 (GRCm39)	I238T		Het
Il2ra	A	C	2: 11,685,161 (GRCm39)	M166L	probably benign	Het
Itga1	A	T	13: 115,171,820 (GRCm39)	L95*	probably null	Het
Itpr3	A	G	17: 27,308,915 (GRCm39)	T373A	probably benign	Het
Klhl28	A	G	12: 64,996,871 (GRCm39)	V490A	probably damaging	Het
Kntc1	A	T	5: 123,898,706 (GRCm39)	N200I	possibly damaging	Het
L3mbtl4	A	G	17: 68,766,794 (GRCm39)	K167R	probably benign	Het
Lgals1	A	T	15: 78,813,930 (GRCm39)	T63S	probably benign	Het
Lnpep	C	A	17: 17,795,596 (GRCm39)	C305F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mcmbp	A	G	7: 128,311,583 (GRCm39)	I310T	possibly damaging	Het
Mical2	G	A	7: 111,945,996 (GRCm39)	R986H	probably damaging	Het
Muc5b	A	T	7: 141,415,330 (GRCm39)	S2759C	possibly damaging	Het
Myh7	A	G	14: 55,229,384 (GRCm39)	V138A	possibly damaging	Het
Ncr1	T	G	7: 4,344,300 (GRCm39)		probably null	Het
Ndufa10	A	T	1: 92,397,610 (GRCm39)	D145E	possibly damaging	Het
Ninl	A	T	2: 150,791,701 (GRCm39)	S941T	probably benign	Het
Nrm	T	A	17: 36,172,411 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,907,227 (GRCm39)	V1018A	possibly damaging	Het
Odf1	A	G	15: 38,219,716 (GRCm39)	I15V	probably benign	Het
Or10al2	T	A	17: 37,983,059 (GRCm39)	N48K	probably damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or1e1c	A	T	11: 73,265,710 (GRCm39)	N48I	probably damaging	Het
Or4b1d	T	A	2: 89,969,004 (GRCm39)	T160S	probably benign	Het
Or52e18	A	T	7: 104,609,657 (GRCm39)	I94N	probably damaging	Het
Or5m10	C	T	2: 85,717,338 (GRCm39)	H65Y	probably damaging	Het
Or5p66	A	T	7: 107,885,898 (GRCm39)	V145D	probably benign	Het
Or7g32	C	A	9: 19,389,382 (GRCm39)	D55Y	probably benign	Het
Osgin2	A	T	4: 15,998,957 (GRCm39)	Y222N	probably damaging	Het
Pcdhga10	T	C	18: 37,882,363 (GRCm39)	V708A	probably benign	Het
Pfn3	T	C	13: 55,562,900 (GRCm39)	D27G	possibly damaging	Het
Plch2	A	G	4: 155,095,322 (GRCm39)		probably null	Het
Plin2	C	A	4: 86,576,914 (GRCm39)	Q270H	probably damaging	Het
Polk	A	G	13: 96,630,403 (GRCm39)	F386S	probably damaging	Het
Prkar1a	G	A	11: 109,556,778 (GRCm39)	G286E	probably damaging	Het
Prodh	A	T	16: 17,898,049 (GRCm39)	L276Q	probably damaging	Het
Ranbp10	T	C	8: 106,513,306 (GRCm39)	N202S	probably damaging	Het
Rapgef6	C	A	11: 54,540,097 (GRCm39)	T724K	probably benign	Het
Rnf144a	T	A	12: 26,377,574 (GRCm39)	K56N	probably benign	Het
Rpa1	T	A	11: 75,203,938 (GRCm39)	K303I	probably damaging	Het
Slc16a9	A	C	10: 70,118,340 (GRCm39)	N220H	possibly damaging	Het
Slc28a3	T	C	13: 58,724,664 (GRCm39)	I197V	probably benign	Het
Slc35d1	A	T	4: 103,071,946 (GRCm39)	F19I		Het
Sohlh2	A	T	3: 55,099,721 (GRCm39)	E164D	probably damaging	Het
Sord	A	T	2: 122,093,765 (GRCm39)	K295*	probably null	Het
Spata31d1b	A	G	13: 59,860,196 (GRCm39)	Y23C	probably benign	Het
Stard9	T	A	2: 120,510,417 (GRCm39)	Y333N	probably damaging	Het
Tas2r107	A	G	6: 131,636,753 (GRCm39)	F99L	probably damaging	Het
Thap12	C	T	7: 98,352,592 (GRCm39)		probably benign	Het
Tmprss9	A	T	10: 80,730,993 (GRCm39)	T840S	probably benign	Het
Trim16	T	A	11: 62,720,026 (GRCm39)		probably null	Het
Ttc16	C	T	2: 32,664,805 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	A	T	1: 66,651,371 (GRCm39)	Y1572F	possibly damaging	Het
Usp42	G	T	5: 143,706,060 (GRCm39)	A320D	possibly damaging	Het
Vmn2r94	T	C	17: 18,464,038 (GRCm39)	T751A	probably damaging	Het
Zbtb41	C	T	1: 139,368,084 (GRCm39)	L591F	probably damaging	Het
Zdhhc5	T	A	2: 84,524,662 (GRCm39)	E219D	probably damaging	Het
Zfp248	A	T	6: 118,406,012 (GRCm39)	F526I	probably damaging	Het
Zfp322a	T	C	13: 23,540,558 (GRCm39)	K395E	possibly damaging	Het
Zfp423	G	A	8: 88,506,877 (GRCm39)	P1156S	probably benign	Het
Zfp644	T	C	5: 106,786,131 (GRCm39)	T139A	possibly damaging	Het

Other mutations in Neo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Neo1	APN	9	58,829,202 (GRCm39)	splice site	probably benign
IGL00885:Neo1	APN	9	58,795,746 (GRCm39)	missense	probably damaging	1.00
IGL01103:Neo1	APN	9	58,788,082 (GRCm39)	missense	possibly damaging	0.60
IGL01322:Neo1	APN	9	58,814,368 (GRCm39)	missense	possibly damaging	0.68
IGL02216:Neo1	APN	9	58,824,336 (GRCm39)	missense	probably damaging	0.96
IGL02327:Neo1	APN	9	58,810,371 (GRCm39)	missense	probably benign	0.08
IGL02392:Neo1	APN	9	58,833,094 (GRCm39)	missense	possibly damaging	0.49
IGL02458:Neo1	APN	9	58,801,150 (GRCm39)	splice site	probably benign
IGL03057:Neo1	APN	9	58,785,342 (GRCm39)	missense	probably damaging	1.00
IGL03091:Neo1	APN	9	58,885,951 (GRCm39)	missense	probably damaging	0.98
IGL03193:Neo1	APN	9	58,815,767 (GRCm39)	missense	probably damaging	1.00
R0097:Neo1	UTSW	9	58,882,021 (GRCm38)	intron	probably benign
R0419:Neo1	UTSW	9	58,897,463 (GRCm39)	splice site	probably benign
R0571:Neo1	UTSW	9	58,893,069 (GRCm39)	missense	probably benign
R0646:Neo1	UTSW	9	58,838,317 (GRCm39)	missense	probably damaging	1.00
R0736:Neo1	UTSW	9	58,824,364 (GRCm39)	missense	possibly damaging	0.78
R0739:Neo1	UTSW	9	58,829,160 (GRCm39)	missense	probably benign	0.22
R1636:Neo1	UTSW	9	58,820,560 (GRCm39)	missense	probably damaging	1.00
R1694:Neo1	UTSW	9	58,787,886 (GRCm39)	missense	probably damaging	1.00
R1827:Neo1	UTSW	9	58,824,314 (GRCm39)	nonsense	probably null
R1927:Neo1	UTSW	9	58,897,668 (GRCm39)	missense	probably benign	0.12
R2354:Neo1	UTSW	9	58,892,917 (GRCm39)	missense	probably benign
R2365:Neo1	UTSW	9	58,863,286 (GRCm39)	missense	probably benign
R3156:Neo1	UTSW	9	58,796,262 (GRCm39)	splice site	probably null
R3552:Neo1	UTSW	9	58,801,161 (GRCm39)	missense	probably damaging	1.00
R3829:Neo1	UTSW	9	58,820,452 (GRCm39)	missense	possibly damaging	0.58
R4477:Neo1	UTSW	9	58,784,582 (GRCm39)	missense	probably damaging	0.99
R4613:Neo1	UTSW	9	58,796,324 (GRCm39)	missense	possibly damaging	0.94
R5023:Neo1	UTSW	9	58,897,554 (GRCm39)	missense	probably damaging	1.00
R5046:Neo1	UTSW	9	58,801,194 (GRCm39)	missense	possibly damaging	0.77
R5057:Neo1	UTSW	9	58,897,554 (GRCm39)	missense	probably damaging	1.00
R5323:Neo1	UTSW	9	58,813,931 (GRCm39)	critical splice donor site	probably null
R5394:Neo1	UTSW	9	58,897,517 (GRCm39)	missense	probably benign	0.10
R5470:Neo1	UTSW	9	58,838,350 (GRCm39)	missense	probably damaging	1.00
R5473:Neo1	UTSW	9	58,788,126 (GRCm39)	missense	possibly damaging	0.88
R5500:Neo1	UTSW	9	58,824,337 (GRCm39)	missense	possibly damaging	0.94
R5503:Neo1	UTSW	9	58,892,933 (GRCm39)	missense	possibly damaging	0.67
R6122:Neo1	UTSW	9	58,824,291 (GRCm39)	missense	probably benign
R6191:Neo1	UTSW	9	58,796,312 (GRCm39)	missense	probably damaging	1.00
R6431:Neo1	UTSW	9	58,814,354 (GRCm39)	missense	probably benign	0.27
R6560:Neo1	UTSW	9	58,787,884 (GRCm39)	missense	possibly damaging	0.95
R6658:Neo1	UTSW	9	58,829,132 (GRCm39)	missense	probably benign	0.14
R6772:Neo1	UTSW	9	58,810,259 (GRCm39)	missense	probably damaging	1.00
R6912:Neo1	UTSW	9	58,824,335 (GRCm39)	missense	probably benign	0.00
R7061:Neo1	UTSW	9	58,897,724 (GRCm39)	missense	possibly damaging	0.95
R7145:Neo1	UTSW	9	58,796,462 (GRCm39)	missense	probably damaging	1.00
R7156:Neo1	UTSW	9	58,810,206 (GRCm39)	missense	probably damaging	1.00
R7485:Neo1	UTSW	9	58,791,826 (GRCm39)	missense	probably benign	0.04
R7519:Neo1	UTSW	9	58,785,348 (GRCm39)	missense	probably benign	0.13
R7615:Neo1	UTSW	9	58,791,786 (GRCm39)	missense	probably benign	0.07
R7665:Neo1	UTSW	9	58,833,078 (GRCm39)	missense	probably damaging	1.00
R7695:Neo1	UTSW	9	58,810,212 (GRCm39)	missense	possibly damaging	0.81
R7753:Neo1	UTSW	9	58,863,288 (GRCm39)	missense	probably benign	0.00
R7807:Neo1	UTSW	9	58,897,777 (GRCm39)	missense	probably benign	0.01
R7915:Neo1	UTSW	9	58,838,264 (GRCm39)	missense	probably benign	0.42
R7973:Neo1	UTSW	9	58,897,476 (GRCm39)	missense	probably damaging	1.00
R8356:Neo1	UTSW	9	58,785,402 (GRCm39)	missense	probably damaging	1.00
R8505:Neo1	UTSW	9	58,820,566 (GRCm39)	missense	probably benign	0.02
R8700:Neo1	UTSW	9	58,825,913 (GRCm39)	missense	probably benign	0.28
R8798:Neo1	UTSW	9	58,820,449 (GRCm39)	missense	probably damaging	1.00
R8952:Neo1	UTSW	9	58,897,545 (GRCm39)	missense	probably benign	0.01
R9779:Neo1	UTSW	9	58,886,009 (GRCm39)	nonsense	probably null
R9784:Neo1	UTSW	9	58,889,503 (GRCm39)	missense	probably benign
X0063:Neo1	UTSW	9	58,897,581 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAACAAAACCAGGGTTGCATG -3'
(R):5'- TATGCCAATCCCTGCATGTAG -3'

Sequencing Primer
(F):5'- ACCAGGGTTGCATGTTAGAGATCC -3'
(R):5'- CCTTGAAAAGGTTTGATGGAG -3'

Posted On

2022-11-14