Mutagenetix > Incidental Mutation

Incidental Mutation 'R5463:Nomo1'

433096

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

D7Ertd156e, Nomo, PM5

MMRRC Submission

043025-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R5463 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

45683122-45733636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45712426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 657 (R657H)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

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

AlphaFold

Q6GQT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033121
AA Change: R657H

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: R657H

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

Validation Efficiency

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	C	10: 115,406,104 (GRCm39)		probably benign	Het
Arhgap29	T	A	3: 121,782,200 (GRCm39)	S71T	possibly damaging	Het
BC048507	T	C	13: 68,011,817 (GRCm39)	Y65H	probably damaging	Het
C3	T	C	17: 57,518,720 (GRCm39)	E1221G	probably benign	Het
Calb1	G	T	4: 15,885,656 (GRCm39)	V76L	probably benign	Het
Crybg1	T	A	10: 43,879,689 (GRCm39)	K500*	probably null	Het
Csmd1	G	A	8: 16,034,860 (GRCm39)	T2437I	probably benign	Het
Cyp27b1	G	A	10: 126,887,966 (GRCm39)	V493I	possibly damaging	Het
Cyp3a44	T	A	5: 145,740,554 (GRCm39)	T29S	probably benign	Het
Dclk3	T	C	9: 111,298,328 (GRCm39)	V624A	probably benign	Het
Dnah6	T	C	6: 73,069,140 (GRCm39)	I2464V	probably benign	Het
Dock6	A	T	9: 21,721,254 (GRCm39)		probably null	Het
Erap1	C	T	13: 74,794,533 (GRCm39)	T64I	probably damaging	Het
Erbb3	A	T	10: 128,405,948 (GRCm39)	Y1156*	probably null	Het
Fam168a	G	A	7: 100,484,602 (GRCm39)	A231T	probably benign	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fbxo30	T	C	10: 11,166,813 (GRCm39)	Y512H	probably damaging	Het
Gcnt2	A	T	13: 41,071,650 (GRCm39)	I98F	possibly damaging	Het
Got1	G	A	19: 43,493,036 (GRCm39)	T295I	probably benign	Het
Herc2	A	G	7: 55,844,010 (GRCm39)	E3538G	probably damaging	Het
Kcnmb4	A	T	10: 116,309,410 (GRCm39)	V6E	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Letmd1	C	T	15: 100,367,009 (GRCm39)	A2V	probably damaging	Het
Lynx1	G	T	15: 74,623,462 (GRCm39)	Y28*	probably null	Het
Mast1	T	C	8: 85,652,136 (GRCm39)	E304G	probably damaging	Het
Nipa1	G	A	7: 55,629,205 (GRCm39)	Q303*	probably null	Het
Or51b4	C	T	7: 103,530,541 (GRCm39)	R303H	probably benign	Het
Pcdha7	T	A	18: 37,108,628 (GRCm39)	L551Q	probably damaging	Het
Pik3r4	T	C	9: 105,525,930 (GRCm39)	Y267H	probably damaging	Het
Pnliprp1	A	G	19: 58,723,168 (GRCm39)	D223G	probably damaging	Het
Prph	G	A	15: 98,953,281 (GRCm39)	G65D	probably benign	Het
Pskh1	T	C	8: 106,639,464 (GRCm39)	L48P	probably benign	Het
Ptdss1	C	A	13: 67,093,365 (GRCm39)	N68K	probably damaging	Het
Rexo5	G	A	7: 119,433,526 (GRCm39)	G495R	probably damaging	Het
Ryr1	C	A	7: 28,723,448 (GRCm39)	A4204S	possibly damaging	Het
Serpinb9	G	A	13: 33,199,659 (GRCm39)	S318N	probably damaging	Het
Slc22a8	G	A	19: 8,586,638 (GRCm39)	R383H	probably benign	Het
Trim26	A	G	17: 37,162,016 (GRCm39)	H145R	probably damaging	Het
Trps1	A	T	15: 50,695,286 (GRCm39)	Y286*	probably null	Het
Vmn1r181	A	G	7: 23,683,787 (GRCm39)	N84S	probably benign	Het
Wdfy4	G	T	14: 32,873,689 (GRCm39)	Q207K	probably benign	Het
Whrn	G	A	4: 63,351,053 (GRCm39)	T427I	probably benign	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
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
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'- GAGTTTACCCACTCCAGCCTATG -3'
(R):5'- TTAAGACAAAGACCCAGCTGTC -3'

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

Posted On

2016-10-06