Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Nomo1'

486627

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

PM5, D7Ertd156e, Nomo

MMRRC Submission

043258-MU

Accession Numbers

NCBI RefSeq: NM_153057.4; MGI: 2385850

Is this an essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R6037 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

46033698-46084212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46062999 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 656 (I656N)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033121]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033121
AA Change: I656N

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: I656N

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
internal_repeat_1	22	215	2.35e-7	PROSPERO
Pfam:CarboxypepD_reg	322	395	3.5e-12	PFAM
Pfam:DUF2012	331	401	5.7e-10	PFAM
low complexity region	709	732	N/A	INTRINSIC
low complexity region	881	893	N/A	INTRINSIC
Blast:FN3	913	1017	6e-22	BLAST
low complexity region	1156	1164	N/A	INTRINSIC
low complexity region	1203	1214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182531

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in Nomo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Nomo1	APN	7	46045336	missense	possibly damaging	0.66
IGL00811:Nomo1	APN	7	46083308	missense	possibly damaging	0.95
IGL01710:Nomo1	APN	7	46038556	missense	probably damaging	1.00
IGL01797:Nomo1	APN	7	46056662	missense	probably damaging	0.96
IGL01973:Nomo1	APN	7	46083227	splice site	probably benign
IGL02506:Nomo1	APN	7	46078056	missense	possibly damaging	0.50
IGL02739:Nomo1	APN	7	46044307	splice site	probably null
IGL02863:Nomo1	APN	7	46046916	missense	probably damaging	0.98
P0005:Nomo1	UTSW	7	46037557	critical splice acceptor site	probably null
PIT4243001:Nomo1	UTSW	7	46044281	missense	probably damaging	1.00
R0106:Nomo1	UTSW	7	46037632	missense	probably damaging	1.00
R0106:Nomo1	UTSW	7	46037632	missense	probably damaging	1.00
R0124:Nomo1	UTSW	7	46083228	splice site	probably benign
R0239:Nomo1	UTSW	7	46079594	critical splice donor site	probably null
R0239:Nomo1	UTSW	7	46079594	critical splice donor site	probably null
R0417:Nomo1	UTSW	7	46068698	missense	possibly damaging	0.51
R0467:Nomo1	UTSW	7	46072487	splice site	probably null
R0535:Nomo1	UTSW	7	46072517	missense	probably damaging	0.99
R0829:Nomo1	UTSW	7	46076172	splice site	probably benign
R0940:Nomo1	UTSW	7	46033905	missense	possibly damaging	0.56
R1480:Nomo1	UTSW	7	46060913	missense	probably damaging	0.98
R1601:Nomo1	UTSW	7	46046955	missense	probably damaging	0.96
R1743:Nomo1	UTSW	7	46070037	critical splice donor site	probably null
R1765:Nomo1	UTSW	7	46066293	missense	possibly damaging	0.59
R1861:Nomo1	UTSW	7	46078101	missense	probably benign	0.06
R1998:Nomo1	UTSW	7	46033944	missense	possibly damaging	0.69
R1999:Nomo1	UTSW	7	46056727	missense	possibly damaging	0.95
R2145:Nomo1	UTSW	7	46066504	missense	probably damaging	1.00
R2869:Nomo1	UTSW	7	46046937	missense	probably damaging	0.96
R2869:Nomo1	UTSW	7	46046937	missense	probably damaging	0.96
R2870:Nomo1	UTSW	7	46046937	missense	probably damaging	0.96
R2870:Nomo1	UTSW	7	46046937	missense	probably damaging	0.96
R2871:Nomo1	UTSW	7	46046937	missense	probably damaging	0.96
R2871:Nomo1	UTSW	7	46046937	missense	probably damaging	0.96
R2873:Nomo1	UTSW	7	46046937	missense	probably damaging	0.96
R4116:Nomo1	UTSW	7	46033896	missense	probably benign	0.06
R4404:Nomo1	UTSW	7	46056668	missense	probably benign	0.00
R4406:Nomo1	UTSW	7	46056668	missense	probably benign	0.00
R4560:Nomo1	UTSW	7	46041480	missense	probably damaging	0.99
R4633:Nomo1	UTSW	7	46050260	splice site	probably benign
R4651:Nomo1	UTSW	7	46068442	missense	probably damaging	0.99
R4653:Nomo1	UTSW	7	46061813	missense	probably benign	0.01
R4752:Nomo1	UTSW	7	46057202	missense	probably damaging	1.00
R4792:Nomo1	UTSW	7	46044219	splice site	probably null
R4838:Nomo1	UTSW	7	46083715	missense	unknown
R4876:Nomo1	UTSW	7	46066491	missense	probably damaging	1.00
R4915:Nomo1	UTSW	7	46044232	missense	probably benign	0.30
R4953:Nomo1	UTSW	7	46050731	intron	probably benign
R5463:Nomo1	UTSW	7	46063002	missense	possibly damaging	0.47
R5664:Nomo1	UTSW	7	46076157	missense	probably benign
R5956:Nomo1	UTSW	7	46042613	missense	possibly damaging	0.51
R6037:Nomo1	UTSW	7	46062999	missense	possibly damaging	0.64
R6307:Nomo1	UTSW	7	46033836	unclassified	probably benign
R6695:Nomo1	UTSW	7	46066461	missense	probably benign	0.16
R6970:Nomo1	UTSW	7	46045967	missense	probably damaging	0.97
R7334:Nomo1	UTSW	7	46083268	missense	probably damaging	1.00
R7394:Nomo1	UTSW	7	46066479	missense	probably benign	0.26
R7556:Nomo1	UTSW	7	46066218	missense	probably damaging	1.00
R7834:Nomo1	UTSW	7	46056738	critical splice donor site	probably null
R7979:Nomo1	UTSW	7	46041562	missense	probably null
R8193:Nomo1	UTSW	7	46042613	missense	possibly damaging	0.51
Z1177:Nomo1	UTSW	7	46066273	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTGAGTTTACCCACTCCAGC -3'
(R):5'- TTAAGACAAAGACCCAGCTGTCAG -3'

Sequencing Primer
(F):5'- GAGTTTACCCACTCCAGCCTATG -3'
(R):5'- AGACCCAGCTGTCAGGAAGC -3'

Posted On

2017-08-16