Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Nomo1'

500427

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

PM5, D7Ertd156e, Nomo

MMRRC Submission

040459-MU

Accession Numbers

NCBI RefSeq: NM_153057.4; MGI: 2385850

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46033698-46084212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46046937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 293 (T293N)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

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

AlphaFold

Q6GQT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033121
AA Change: T293N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: T293N

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: ENSMUST00000182564

Meta Mutation Damage Score

0.3060

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

Validation Efficiency

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	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
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
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
R8841:Nomo1	UTSW	7	46058487	missense	probably benign	0.00
R8906:Nomo1	UTSW	7	46072580	missense	probably benign	0.06
R9049:Nomo1	UTSW	7	46066173	missense	probably benign	0.01
R9087:Nomo1	UTSW	7	46083324	missense	probably benign	0.00
R9176:Nomo1	UTSW	7	46081404	missense	possibly damaging	0.88
Z1177:Nomo1	UTSW	7	46066273	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TTAGGTTGCAAGTGGGTCAC -3'
(R):5'- GAGGAAGTACACCTATGGTACC -3'

Sequencing Primer
(F):5'- TCACAGTAGAGTGCAAGGCTTCTC -3'
(R):5'- AGTACACCTATGGTACCCCGGG -3'

Posted On

2017-12-01