Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4243001:Nomo1'

554462

Institutional Source

Beutler Lab

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

D7Ertd156e, Nomo, PM5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

PIT4243001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45683122-45733636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45693705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 179 (H179R)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

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

AlphaFold

Q6GQT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033121
AA Change: H179R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: H179R

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: 92.7%
3x: 90.5%
10x: 85.2%
20x: 74.3%

Validation Efficiency

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
2310003L06Rik	A	T	5: 88,119,999 (GRCm39)	E252V	possibly damaging	Het
Abhd13	T	C	8: 10,037,967 (GRCm39)	F188S	possibly damaging	Het
Abtb1	A	G	6: 88,815,708 (GRCm39)	V225A	probably benign	Het
Accs	A	G	2: 93,671,679 (GRCm39)	M237T	probably benign	Het
Adcy9	A	G	16: 4,236,271 (GRCm39)	I380T	probably damaging	Het
Add3	T	C	19: 53,225,121 (GRCm39)	S414P	probably benign	Het
Ak3	C	T	19: 29,015,271 (GRCm39)		probably null	Het
Atg14	T	C	14: 47,792,031 (GRCm39)	E132G	possibly damaging	Het
Bcl2l11	A	G	2: 127,989,026 (GRCm39)	E135G	probably benign	Het
Brwd1	G	A	16: 95,803,871 (GRCm39)	Q2100*	probably null	Het
Card11	A	C	5: 140,894,359 (GRCm39)	V90G	possibly damaging	Het
Celsr3	T	C	9: 108,709,507 (GRCm39)	V1451A	probably benign	Het
Clip4	T	C	17: 72,113,723 (GRCm39)	I291T	probably damaging	Het
Clk1	C	T	1: 58,458,836 (GRCm39)	D179N	probably damaging	Het
Cyp11b2	A	G	15: 74,723,302 (GRCm39)	L454P	probably damaging	Het
Cyp2a12	C	A	7: 26,734,198 (GRCm39)	S377Y	probably benign	Het
Ep400	A	G	5: 110,883,446 (GRCm39)	S663P	unknown	Het
Erich6	G	A	3: 58,537,300 (GRCm39)	T238I	possibly damaging	Het
Herc1	T	A	9: 66,279,489 (GRCm39)	H132Q	probably benign	Het
Hk2	A	G	6: 82,707,858 (GRCm39)	C704R	probably damaging	Het
Ift74	A	T	4: 94,575,141 (GRCm39)	R531W	possibly damaging	Het
Ism2	T	C	12: 87,333,832 (GRCm39)	E71G	probably benign	Het
Lipe	A	C	7: 25,094,971 (GRCm39)	S22A	probably benign	Het
Myl10	A	G	5: 136,723,147 (GRCm39)	D32G	probably benign	Het
Or1ad6	T	C	11: 50,860,379 (GRCm39)	F178S	probably damaging	Het
Or2n1b	T	C	17: 38,460,394 (GRCm39)	F305S	probably benign	Het
Pdpn	T	A	4: 142,997,108 (GRCm39)	T129S	probably damaging	Het
Pold1	C	T	7: 44,191,582 (GRCm39)	V135I	possibly damaging	Het
Rasgrp3	T	A	17: 75,807,134 (GRCm39)	N199K	probably damaging	Het
Skil	T	C	3: 31,167,714 (GRCm39)	S449P	probably damaging	Het
Spag16	T	C	1: 69,892,540 (GRCm39)	L107P	probably damaging	Het
Tbccd1	A	G	16: 22,641,087 (GRCm39)	M430T	probably damaging	Het
Tnfaip3	G	A	10: 18,887,322 (GRCm39)	L68F	probably damaging	Het
Trrap	G	A	5: 144,733,781 (GRCm39)	R878H	probably benign	Het
Vasn	T	C	16: 4,467,480 (GRCm39)	S476P	probably damaging	Het
Vmn2r110	T	A	17: 20,802,379 (GRCm39)	M499L	probably benign	Het
Wwp1	T	C	4: 19,638,631 (GRCm39)	T571A	probably damaging	Het
Zfp608	C	A	18: 55,031,096 (GRCm39)	G948V	probably damaging	Het
Zswim5	A	G	4: 116,841,975 (GRCm39)	I852V	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
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
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'- CACATGGGGAGTGTTCAGAG -3'
(R):5'- TGCTGGACTTTATAAAATCCGCC -3'

Sequencing Primer
(F):5'- TTCAGAGAGTGGGTTTGGACAGAAC -3'
(R):5'- GGACTTTATAAAATCCGCCACCCAC -3'

Posted On

2019-06-07