Mutagenetix > Incidental Mutation

Incidental Mutation 'R2873:Notum'

334559

Institutional Source

Beutler Lab

Gene Symbol

Notum

Ensembl Gene

ENSMUSG00000042988

Gene Name

notum palmitoleoyl-protein carboxylesterase

Synonyms

5730593N15Rik

MMRRC Submission

040461-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R2873 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120544614-120552001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120551022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 48 (V48A)

Ref Sequence

ENSEMBL: ENSMUSP00000122788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106177] [ENSMUST00000106178] [ENSMUST00000150458]

AlphaFold

Q8R116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000055439

Predicted Effect

probably benign
Transcript: ENSMUST00000106177
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101783
Gene: ENSMUSG00000042988
AA Change: V48A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
Pfam:PAE	78	431	6.2e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106178
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101784
Gene: ENSMUSG00000042988
AA Change: V48A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
Pfam:PAE	88	426	4.6e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126642

Predicted Effect

probably benign
Transcript: ENSMUST00000150458
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122788
Gene: ENSMUSG00000042988
AA Change: V48A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
Pfam:PAE	78	215	1.2e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151998

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Acvr1	G	A	2: 58,367,808 (GRCm39)	Q118*	probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd40	T	C	11: 94,224,771 (GRCm39)	V60A	possibly damaging	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp13a2	T	C	4: 140,730,294 (GRCm39)	I773T	probably benign	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Ccdc162	G	T	10: 41,531,095 (GRCm39)	T537N	possibly damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd101	A	T	3: 100,911,164 (GRCm39)	D831E	probably benign	Het
Ch25h	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Chek2	C	A	5: 111,011,202 (GRCm39)	Y333*	probably null	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Flnc	A	G	6: 29,447,542 (GRCm39)	D1115G	probably damaging	Het
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm5519	A	C	19: 33,802,410 (GRCm39)	D151A	possibly damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notch1	A	G	2: 26,350,247 (GRCm39)	C2298R	possibly damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pms2	G	A	5: 143,848,732 (GRCm39)		probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Ptger4	T	C	15: 5,264,286 (GRCm39)	R457G	probably benign	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Ralgds	A	G	2: 28,438,781 (GRCm39)		probably null	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Sgk2	A	G	2: 162,836,449 (GRCm39)		probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc4a4	G	T	5: 89,283,623 (GRCm39)	V481L	probably damaging	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Slit3	G	T	11: 35,435,620 (GRCm39)	E184*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tet2	C	T	3: 133,192,715 (GRCm39)	G573E	probably damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Usp9y	T	A	Y: 1,310,502 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het

Other mutations in Notum

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Notum	APN	11	120,547,482 (GRCm39)	missense	probably damaging	1.00
R0265:Notum	UTSW	11	120,549,160 (GRCm39)	missense	probably benign	0.09
R0383:Notum	UTSW	11	120,545,282 (GRCm39)	missense	probably benign
R1268:Notum	UTSW	11	120,549,493 (GRCm39)	nonsense	probably null
R1311:Notum	UTSW	11	120,546,575 (GRCm39)	unclassified	probably benign
R2249:Notum	UTSW	11	120,545,237 (GRCm39)	missense	probably benign
R2869:Notum	UTSW	11	120,551,022 (GRCm39)	missense	probably benign
R2869:Notum	UTSW	11	120,551,022 (GRCm39)	missense	probably benign
R2871:Notum	UTSW	11	120,551,022 (GRCm39)	missense	probably benign
R2871:Notum	UTSW	11	120,551,022 (GRCm39)	missense	probably benign
R2872:Notum	UTSW	11	120,551,022 (GRCm39)	missense	probably benign
R2872:Notum	UTSW	11	120,551,022 (GRCm39)	missense	probably benign
R5617:Notum	UTSW	11	120,547,171 (GRCm39)	nonsense	probably null
R6298:Notum	UTSW	11	120,548,766 (GRCm39)	missense	probably damaging	1.00
R7748:Notum	UTSW	11	120,545,627 (GRCm39)	missense	probably damaging	0.99
R8998:Notum	UTSW	11	120,545,207 (GRCm39)	missense	probably benign	0.08
R8999:Notum	UTSW	11	120,545,207 (GRCm39)	missense	probably benign	0.08
R9261:Notum	UTSW	11	120,550,974 (GRCm39)	missense
R9616:Notum	UTSW	11	120,550,974 (GRCm39)	missense
R9642:Notum	UTSW	11	120,550,980 (GRCm39)	missense	probably damaging	0.98
R9714:Notum	UTSW	11	120,551,019 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTGCAGGTCACCGACGTG -3'
(R):5'- CGAGGAGCAGCAGTGTCTTG -3'

Sequencing Primer
(F):5'- TCACCGACGTGTTCAGCAG -3'
(R):5'- AGCAGTGTCTTGCGCGC -3'

Posted On

2015-09-01