Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Nomo1'

224548

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

D7Ertd156e, Nomo, PM5

MMRRC Submission

040008-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R1998 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45683122-45733636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45683368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002850] [ENSMUST00000033121]

AlphaFold

Q6GQT9

Predicted Effect

probably benign
Transcript: ENSMUST00000002850

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
transmembrane domain	81	100	N/A	INTRINSIC
transmembrane domain	110	129	N/A	INTRINSIC
transmembrane domain	142	161	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC
Pfam:ABC_membrane	309	580	3.5e-29	PFAM
AAA	653	828	1.19e-9	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:ABC_membrane	942	1211	2.5e-32	PFAM
AAA	1286	1473	1.71e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033121
AA Change: D38G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: D38G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 88,118,553 (GRCm39)	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,235,393 (GRCm39)	S1114R	possibly damaging	Het
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adam22	T	C	5: 8,379,995 (GRCm39)	D101G	probably damaging	Het
Adcy9	T	C	16: 4,115,276 (GRCm39)	D705G	probably benign	Het
Adgrg3	T	G	8: 95,763,296 (GRCm39)	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Brwd1	G	A	16: 95,822,488 (GRCm39)	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Camta1	T	C	4: 151,162,337 (GRCm39)	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,709 (GRCm39)	L139M	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Dgka	C	T	10: 128,565,808 (GRCm39)	V367I	probably benign	Het
Dnajb13	A	T	7: 100,153,817 (GRCm39)	I206N	probably benign	Het
Dst	A	T	1: 34,295,428 (GRCm39)	Q5693L	probably damaging	Het
Ear6	T	A	14: 52,091,672 (GRCm39)	I73N	probably benign	Het
Egr1	A	G	18: 34,994,587 (GRCm39)	I16V	probably benign	Het
Eif2s1	T	A	12: 78,913,508 (GRCm39)	C70S	possibly damaging	Het
Epcam	T	C	17: 87,947,902 (GRCm39)	V124A	probably damaging	Het
Erbb2	T	A	11: 98,319,779 (GRCm39)	C624S	probably damaging	Het
Fam135b	T	A	15: 71,324,253 (GRCm39)	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 22,453,713 (GRCm39)	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,524,305 (GRCm39)	S127L	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Gbe1	A	T	16: 70,365,929 (GRCm39)	N702I	probably damaging	Het
Gm10643	A	T	8: 84,791,053 (GRCm39)	C20*	probably null	Het
Gpr156	A	G	16: 37,818,270 (GRCm39)	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,564,520 (GRCm39)	I333N	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,310 (GRCm39)	E176G	probably benign	Het
Iqca1l	G	A	5: 24,750,004 (GRCm39)	R680C	probably benign	Het
Jag1	T	C	2: 136,932,858 (GRCm39)	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760 (GRCm39)	E378G	probably benign	Het
Lipo4	A	G	19: 33,491,701 (GRCm39)	V94A	probably damaging	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mars1	T	A	10: 127,136,347 (GRCm39)	K493*	probably null	Het
Mars1	T	C	10: 127,138,740 (GRCm39)	I439V	probably benign	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,310,887 (GRCm39)	E350V	probably damaging	Het
Mki67	A	G	7: 135,307,499 (GRCm39)	M459T	probably benign	Het
Mlf1	G	A	3: 67,302,624 (GRCm39)	G150R	probably damaging	Het
Mtmr14	A	G	6: 113,254,885 (GRCm39)	D294G	probably null	Het
Nlrp4e	A	C	7: 23,020,671 (GRCm39)	Y386S	probably benign	Het
Nudcd2	T	C	11: 40,624,844 (GRCm39)	W18R	probably damaging	Het
Or11g26	T	A	14: 50,752,813 (GRCm39)	C51S	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or52e4	G	T	7: 104,706,112 (GRCm39)	V220L	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or5w16	T	C	2: 87,577,316 (GRCm39)	Y259H	probably damaging	Het
Pcnx2	A	T	8: 126,613,882 (GRCm39)	V523D	probably damaging	Het
Pkd1	T	C	17: 24,791,988 (GRCm39)	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,914,305 (GRCm39)	L1236Q	possibly damaging	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prrc2c	T	A	1: 162,532,487 (GRCm39)		probably benign	Het
Rai14	C	T	15: 10,595,067 (GRCm39)		probably null	Het
Rap1gap2	A	G	11: 74,286,659 (GRCm39)	L547P	probably benign	Het
Rims3	A	T	4: 120,748,555 (GRCm39)	M259L	probably benign	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Sart3	A	C	5: 113,885,982 (GRCm39)		probably null	Het
Scn7a	C	A	2: 66,513,613 (GRCm39)	G1156C	probably damaging	Het
Sh3rf2	T	A	18: 42,274,148 (GRCm39)	V406D	probably damaging	Het
Slitrk6	T	C	14: 110,989,255 (GRCm39)	I151V	probably damaging	Het
Smarca2	A	T	19: 26,608,493 (GRCm39)	Q260L	probably benign	Het
Smco1	A	G	16: 32,092,658 (GRCm39)	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Stab1	T	A	14: 30,884,110 (GRCm39)	K219*	probably null	Het
Sulf1	G	T	1: 12,929,058 (GRCm39)	E869*	probably null	Het
Susd1	T	C	4: 59,349,925 (GRCm39)	I504V	probably benign	Het
Szt2	A	G	4: 118,232,924 (GRCm39)		probably null	Het
Tas1r3	A	T	4: 155,947,377 (GRCm39)	C103S	probably damaging	Het
Thg1l	C	A	11: 45,841,030 (GRCm39)	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,758,707 (GRCm39)	D500V	probably damaging	Het
Tmem72	A	G	6: 116,693,525 (GRCm39)	V5A	probably benign	Het
Tns4	T	G	11: 98,976,529 (GRCm39)	M131L	probably benign	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,030,601 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,491,313 (GRCm39)	D311E	possibly damaging	Het
Vtn	T	A	11: 78,390,542 (GRCm39)	V67E	probably damaging	Het
Xirp2	T	A	2: 67,339,393 (GRCm39)	F545I	probably damaging	Het

Other mutations in Nomo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Nomo1	APN	7	45,694,760 (GRCm39)	missense	possibly damaging	0.66
IGL00811:Nomo1	APN	7	45,732,732 (GRCm39)	missense	possibly damaging	0.95
IGL01710:Nomo1	APN	7	45,687,980 (GRCm39)	missense	probably damaging	1.00
IGL01797:Nomo1	APN	7	45,706,086 (GRCm39)	missense	probably damaging	0.96
IGL01973:Nomo1	APN	7	45,732,651 (GRCm39)	splice site	probably benign
IGL02506:Nomo1	APN	7	45,727,480 (GRCm39)	missense	possibly damaging	0.50
IGL02739:Nomo1	APN	7	45,693,731 (GRCm39)	splice site	probably null
IGL02863:Nomo1	APN	7	45,696,340 (GRCm39)	missense	probably damaging	0.98
P0005:Nomo1	UTSW	7	45,686,981 (GRCm39)	critical splice acceptor site	probably null
PIT4243001:Nomo1	UTSW	7	45,693,705 (GRCm39)	missense	probably damaging	1.00
R0106:Nomo1	UTSW	7	45,687,056 (GRCm39)	missense	probably damaging	1.00
R0106:Nomo1	UTSW	7	45,687,056 (GRCm39)	missense	probably damaging	1.00
R0124:Nomo1	UTSW	7	45,732,652 (GRCm39)	splice site	probably benign
R0239:Nomo1	UTSW	7	45,729,018 (GRCm39)	critical splice donor site	probably null
R0239:Nomo1	UTSW	7	45,729,018 (GRCm39)	critical splice donor site	probably null
R0417:Nomo1	UTSW	7	45,718,122 (GRCm39)	missense	possibly damaging	0.51
R0467:Nomo1	UTSW	7	45,721,911 (GRCm39)	splice site	probably null
R0535:Nomo1	UTSW	7	45,721,941 (GRCm39)	missense	probably damaging	0.99
R0829:Nomo1	UTSW	7	45,725,596 (GRCm39)	splice site	probably benign
R0940:Nomo1	UTSW	7	45,683,329 (GRCm39)	missense	possibly damaging	0.56
R1480:Nomo1	UTSW	7	45,710,337 (GRCm39)	missense	probably damaging	0.98
R1601:Nomo1	UTSW	7	45,696,379 (GRCm39)	missense	probably damaging	0.96
R1743:Nomo1	UTSW	7	45,719,461 (GRCm39)	critical splice donor site	probably null
R1765:Nomo1	UTSW	7	45,715,717 (GRCm39)	missense	possibly damaging	0.59
R1861:Nomo1	UTSW	7	45,727,525 (GRCm39)	missense	probably benign	0.06
R1999:Nomo1	UTSW	7	45,706,151 (GRCm39)	missense	possibly damaging	0.95
R2145:Nomo1	UTSW	7	45,715,928 (GRCm39)	missense	probably damaging	1.00
R2869:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2869:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2870:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2870:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2871:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2871:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2873:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R4116:Nomo1	UTSW	7	45,683,320 (GRCm39)	missense	probably benign	0.06
R4404:Nomo1	UTSW	7	45,706,092 (GRCm39)	missense	probably benign	0.00
R4406:Nomo1	UTSW	7	45,706,092 (GRCm39)	missense	probably benign	0.00
R4560:Nomo1	UTSW	7	45,690,904 (GRCm39)	missense	probably damaging	0.99
R4633:Nomo1	UTSW	7	45,699,684 (GRCm39)	splice site	probably benign
R4651:Nomo1	UTSW	7	45,717,866 (GRCm39)	missense	probably damaging	0.99
R4653:Nomo1	UTSW	7	45,711,237 (GRCm39)	missense	probably benign	0.01
R4752:Nomo1	UTSW	7	45,706,626 (GRCm39)	missense	probably damaging	1.00
R4792:Nomo1	UTSW	7	45,693,643 (GRCm39)	splice site	probably null
R4838:Nomo1	UTSW	7	45,733,139 (GRCm39)	missense	unknown
R4876:Nomo1	UTSW	7	45,715,915 (GRCm39)	missense	probably damaging	1.00
R4915:Nomo1	UTSW	7	45,693,656 (GRCm39)	missense	probably benign	0.30
R4953:Nomo1	UTSW	7	45,700,155 (GRCm39)	intron	probably benign
R5463:Nomo1	UTSW	7	45,712,426 (GRCm39)	missense	possibly damaging	0.47
R5664:Nomo1	UTSW	7	45,725,581 (GRCm39)	missense	probably benign
R5956:Nomo1	UTSW	7	45,692,037 (GRCm39)	missense	possibly damaging	0.51
R6037:Nomo1	UTSW	7	45,712,423 (GRCm39)	missense	possibly damaging	0.64
R6037:Nomo1	UTSW	7	45,712,423 (GRCm39)	missense	possibly damaging	0.64
R6307:Nomo1	UTSW	7	45,683,260 (GRCm39)	unclassified	probably benign
R6695:Nomo1	UTSW	7	45,715,885 (GRCm39)	missense	probably benign	0.16
R6970:Nomo1	UTSW	7	45,695,391 (GRCm39)	missense	probably damaging	0.97
R7334:Nomo1	UTSW	7	45,732,692 (GRCm39)	missense	probably damaging	1.00
R7394:Nomo1	UTSW	7	45,715,903 (GRCm39)	missense	probably benign	0.26
R7556:Nomo1	UTSW	7	45,715,642 (GRCm39)	missense	probably damaging	1.00
R7834:Nomo1	UTSW	7	45,706,162 (GRCm39)	critical splice donor site	probably null
R7979:Nomo1	UTSW	7	45,690,986 (GRCm39)	missense	probably null
R8193:Nomo1	UTSW	7	45,692,037 (GRCm39)	missense	possibly damaging	0.51
R8841:Nomo1	UTSW	7	45,707,911 (GRCm39)	missense	probably benign	0.00
R8906:Nomo1	UTSW	7	45,722,004 (GRCm39)	missense	probably benign	0.06
R9049:Nomo1	UTSW	7	45,715,597 (GRCm39)	missense	probably benign	0.01
R9087:Nomo1	UTSW	7	45,732,748 (GRCm39)	missense	probably benign	0.00
R9176:Nomo1	UTSW	7	45,730,828 (GRCm39)	missense	possibly damaging	0.88
Z1177:Nomo1	UTSW	7	45,715,697 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GATGACTCTGAAGTGGAAGCC -3'
(R):5'- CTGCAATATGGGTTGGGCAG -3'

Sequencing Primer
(F):5'- ACTCTGAAGTGGAAGCCTGTCTG -3'
(R):5'- CAGATTAGAGTTTCGGAGGTCC -3'

Posted On

2014-08-25