Mutagenetix > Incidental Mutation

Incidental Mutation 'R4404:Nomo1'

326757

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

D7Ertd156e, Nomo, PM5

MMRRC Submission

041133-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R4404 (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 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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc188	A	G	16: 18,036,284 (GRCm39)	Q153R	probably damaging	Het
Cimap3	G	A	3: 105,908,684 (GRCm39)	P7L	probably benign	Het
Dop1a	T	A	9: 86,404,866 (GRCm39)	L1721*	probably null	Het
Fcsk	T	A	8: 111,616,933 (GRCm39)	T406S	probably benign	Het
Fer	A	T	17: 64,248,284 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Gria4	A	T	9: 4,464,489 (GRCm39)		probably null	Het
Gtf3c4	T	C	2: 28,716,761 (GRCm39)	D813G	probably damaging	Het
Hars2	G	T	18: 36,918,989 (GRCm39)	C83F	probably damaging	Het
Htr6	A	G	4: 138,789,513 (GRCm39)	S251P	probably benign	Het
Igsf10	T	C	3: 59,236,972 (GRCm39)	T1070A	probably benign	Het
Il22ra1	A	T	4: 135,464,742 (GRCm39)	E149D	possibly damaging	Het
Lama3	G	A	18: 12,715,588 (GRCm39)	M1681I	probably benign	Het
Loxhd1	G	A	18: 77,518,828 (GRCm39)	G1878D	probably damaging	Het
Mcc	G	A	18: 44,892,365 (GRCm39)	T83M	probably benign	Het
Nol11	A	T	11: 107,064,551 (GRCm39)	C468S	probably damaging	Het
Npy5r	C	T	8: 67,134,644 (GRCm39)	V50I	probably benign	Het
Or8g21	T	C	9: 38,905,865 (GRCm39)	I289V	possibly damaging	Het
Pam	T	C	1: 97,782,446 (GRCm39)		probably benign	Het
Pank4	C	T	4: 155,064,613 (GRCm39)	T724I	probably benign	Het
Pramel34	T	A	5: 93,785,572 (GRCm39)	H236L	possibly damaging	Het
Sertm1	C	T	3: 54,806,746 (GRCm39)	C93Y	probably damaging	Het
Slc22a2	A	G	17: 12,833,651 (GRCm39)	T444A	probably damaging	Het
Trpm7	C	A	2: 126,675,635 (GRCm39)	L489F	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Usp25	A	C	16: 76,912,341 (GRCm39)	K1020T	probably damaging	Het
Vmn2r76	T	C	7: 85,877,511 (GRCm39)	T511A	probably benign	Het
Zdhhc15	G	A	X: 103,604,294 (GRCm39)	R322*	probably null	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
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'- GTTCCCTGCAACCTCTAGTG -3'
(R):5'- GGACAGACCACCTTTCTCTC -3'

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

Posted On

2015-07-07