Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02506:Nomo1'

296318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

PM5, D7Ertd156e, Nomo

Accession Numbers

NCBI RefSeq: NM_153057.4; MGI: 2385850

Is this an essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

46033698-46084212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46078056 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1040 (I1040V)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033121
AA Change: I1040V

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: I1040V

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: ENSMUST00000182305

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,692,488	E189G	possibly damaging	Het
Acad11	T	C	9: 104,091,732		probably null	Het
Adcy7	G	T	8: 88,317,943	R488L	probably damaging	Het
Akt1	C	T	12: 112,659,280		probably benign	Het
Ano9	C	T	7: 141,102,254		probably benign	Het
Arhgap15	A	G	2: 44,063,808	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,452,399	V127D	probably benign	Het
Cacna1g	A	G	11: 94,429,129	M1407T	probably damaging	Het
Card9	A	C	2: 26,354,415		probably benign	Het
Cdh5	A	G	8: 104,137,822	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,527,954	T343S	probably benign	Het
Cic	T	A	7: 25,290,857	C1928S	probably benign	Het
Clk3	C	T	9: 57,754,644	W31*	probably null	Het
Cntn4	A	G	6: 106,618,388	T489A	probably benign	Het
Crispld1	G	A	1: 17,756,305	R431H	probably damaging	Het
Crmp1	T	A	5: 37,278,855		probably benign	Het
Cyld	A	G	8: 88,729,590	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,799,388	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,829,785	N141D	probably damaging	Het
Dip2b	T	A	15: 100,157,281	L341Q	probably damaging	Het
F3	C	T	3: 121,731,674	T53I	possibly damaging	Het
Fam227b	T	A	2: 126,003,911	Y386F	probably benign	Het
Fmn1	A	T	2: 113,525,295	T694S	unknown	Het
Gcnt2	T	A	13: 40,887,380	V5E	probably benign	Het
Herpud1	G	T	8: 94,394,642	E355*	probably null	Het
Igf1r	T	C	7: 68,193,396	S752P	probably benign	Het
Iqsec1	T	C	6: 90,672,075	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,432,149	S1598P	probably damaging	Het
Klk9	A	G	7: 43,795,639	E185G	probably benign	Het
Myo16	G	T	8: 10,390,217	R423L	probably damaging	Het
Myo7b	T	C	18: 31,967,154	E1609G	probably damaging	Het
Nom1	T	A	5: 29,439,816		probably benign	Het
Olfr887	G	A	9: 38,085,445	G203D	probably damaging	Het
Paqr9	T	C	9: 95,560,695	V246A	probably benign	Het
Pfkfb4	A	T	9: 109,030,336	D437V	probably benign	Het
Phldb1	G	T	9: 44,710,926	D797E	probably benign	Het
Pkd1l3	A	G	8: 109,647,500	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,471,766	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,489,991	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,467,928	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 185,252,024		probably benign	Het
Rad23b	T	C	4: 55,382,511	V238A	probably benign	Het
Sel1l2	T	C	2: 140,275,460	T164A	possibly damaging	Het
Serpinh1	T	A	7: 99,346,992	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,581,838	E770G	probably benign	Het
Spag4	T	C	2: 156,069,222	L390P	probably damaging	Het
Stip1	A	G	19: 7,035,489		probably benign	Het
Tacr1	A	G	6: 82,403,758	N50S	probably damaging	Het
Tg	T	C	15: 66,741,594	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,369,211		probably benign	Het
Usp40	A	T	1: 87,982,016	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,162	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,444,406	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,049,191	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,265,237	F552I	probably damaging	Het
Zfp507	T	C	7: 35,776,466	I811V	probably damaging	Het
Zfp663	A	T	2: 165,353,951	V116D	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
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
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

Posted On

2015-04-16