Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Nomo1'

59224

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

D7Ertd156e, Nomo, PM5

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R0239 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

45683122-45733636 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 45729018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

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

AlphaFold

Q6GQT9

Predicted Effect

probably null
Transcript: ENSMUST00000033121

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835

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

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (81/83)

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Greb1l	C	T	18: 10,458,567 (GRCm39)		probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Klc1	A	G	12: 111,751,758 (GRCm39)		probably benign	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mrrf	T	C	2: 36,067,293 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Raet1c	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Scgb1b2	T	A	7: 30,991,155 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc49a3	G	T	5: 108,591,882 (GRCm39)		probably benign	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	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
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
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'- AGGCATTACTGACTGTTGGCCTTG -3'
(R):5'- CACTCCTTAGTTCTGGATGTGGCG -3'

Sequencing Primer
(F):5'- CAAGGACTGTATCCTGAGACCTG -3'
(R):5'- GACGGTTTCAATTTGTTTCCCAAG -3'

Posted On

2013-07-11