Mutagenetix > Incidental Mutation

Incidental Mutation 'R4406:Nomo1'

327656

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

D7Ertd156e, Nomo, PM5

MMRRC Submission

041688-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R4406 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

45683122-45733636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45706092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 482 (N482S)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

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

AlphaFold

Q6GQT9

Predicted Effect

probably benign
Transcript: ENSMUST00000033121
AA Change: N482S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: N482S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182842

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	T	11: 84,171,275 (GRCm39)	L1170F	probably benign	Het
Acss3	A	T	10: 106,889,198 (GRCm39)	D207E	probably damaging	Het
Adgrl1	T	C	8: 84,656,671 (GRCm39)	S325P	probably damaging	Het
Ankrd37	A	G	8: 46,450,131 (GRCm39)		probably benign	Het
Atp13a2	C	T	4: 140,733,787 (GRCm39)	P1059S	probably damaging	Het
Camkv	T	C	9: 107,823,418 (GRCm39)		probably null	Het
Ces1f	T	C	8: 93,989,950 (GRCm39)	T387A	probably benign	Het
Dmxl1	T	A	18: 50,022,620 (GRCm39)	L1653I	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat2	G	A	11: 55,153,094 (GRCm39)	A3706V	probably benign	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Gm1527	G	A	3: 28,949,874 (GRCm39)	V45M	possibly damaging	Het
Gm5084	A	G	13: 60,360,380 (GRCm39)		noncoding transcript	Het
Itpr1	T	A	6: 108,331,624 (GRCm39)	H194Q	probably damaging	Het
Kif24	A	T	4: 41,393,954 (GRCm39)	L973Q	probably damaging	Het
Lrfn4	T	C	19: 4,663,299 (GRCm39)	T412A	probably benign	Het
Ly75	T	C	2: 60,184,894 (GRCm39)	E420G	probably damaging	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Mib1	A	C	18: 10,763,289 (GRCm39)	K446N	probably damaging	Het
Mrpl4	T	C	9: 20,918,231 (GRCm39)	W146R	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or2y1	G	A	11: 49,385,744 (GRCm39)	R128H	probably benign	Het
Or5b105	A	G	19: 13,079,958 (GRCm39)	S237P	possibly damaging	Het
Or5b96	A	T	19: 12,867,598 (GRCm39)	Y114*	probably null	Het
Or8g21	T	C	9: 38,905,865 (GRCm39)	I289V	possibly damaging	Het
Or9s15	T	A	1: 92,525,036 (GRCm39)	M265K	possibly damaging	Het
Osbpl10	C	T	9: 114,938,549 (GRCm39)	H70Y	probably damaging	Het
Pdilt	A	C	7: 119,094,232 (GRCm39)	S340A	probably damaging	Het
Ppan	C	A	9: 20,802,288 (GRCm39)	D226E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sema3g	G	A	14: 30,950,116 (GRCm39)	V766M	probably benign	Het
Skint6	T	A	4: 113,013,683 (GRCm39)	N356I	probably benign	Het
Slco2b1	A	T	7: 99,314,096 (GRCm39)	S496T	probably benign	Het
Trak1	T	C	9: 121,260,602 (GRCm39)	V11A	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Umod	G	A	7: 119,065,287 (GRCm39)	P581S	probably damaging	Het
Zfat	A	G	15: 68,052,040 (GRCm39)	S585P	probably benign	Het
Zfp472	C	A	17: 33,197,134 (GRCm39)	T403N	probably benign	Het
Zfp936	A	G	7: 42,839,748 (GRCm39)	Q405R	possibly 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
R1998:Nomo1	UTSW	7	45,683,368 (GRCm39)	missense	possibly damaging	0.69
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
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'- GTTCCCTGCAACCTCTAGTG -3'
(R):5'- CAGACCTACCAAGACAGGATGG -3'

Sequencing Primer
(F):5'- CTGCAACCTCTAGTGTAGCAG -3'
(R):5'- GGGACAGACCACCTTTCTC -3'

Posted On

2015-07-07