Mutagenetix > Incidental Mutation

Incidental Mutation 'R9696:Nt5c3b'

729308

Institutional Source

Beutler Lab

Gene Symbol

Nt5c3b

Ensembl Gene

ENSMUSG00000017176

Gene Name

5'-nucleotidase, cytosolic IIIB

Synonyms

2610037D24Rik, C330027I04Rik, Nt5c3l

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R9696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100313147-100332634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100323811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 167 (I167N)

Ref Sequence

ENSEMBL: ENSMUSP00000090360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092688] [ENSMUST00000092689] [ENSMUST00000107397] [ENSMUST00000107398] [ENSMUST00000107399]

AlphaFold

Q3UFY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000092688
AA Change: I167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090360
Gene: ENSMUSG00000017176
AA Change: I167N

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	289	6.2e-126	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000092689
AA Change: I124N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090361
Gene: ENSMUSG00000017176
AA Change: I124N

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	1	246	1.2e-123	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107397
AA Change: I159N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103020
Gene: ENSMUSG00000017176
AA Change: I159N

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	36	281	1.9e-123	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107398
AA Change: I167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176
AA Change: I167N

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	261	3.5e-108	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107399
AA Change: I167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176
AA Change: I167N

Domain	Start	End	E-Value	Type
Pfam:UMPH-1	44	261	3.5e-108	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,691,256 (GRCm39)	D105G	possibly damaging	Het
4930407I10Rik	A	G	15: 81,949,697 (GRCm39)	N1198S	probably benign	Het
Abca14	A	T	7: 119,888,734 (GRCm39)	I1227F	possibly damaging	Het
Abhd10	T	C	16: 45,552,042 (GRCm39)	D277G	probably damaging	Het
Adam20	A	G	8: 41,249,633 (GRCm39)	N581S	probably damaging	Het
Apbb1ip	A	T	2: 22,725,989 (GRCm39)	T254S	probably benign	Het
Arap3	T	C	18: 38,112,905 (GRCm39)	T1102A	probably damaging	Het
Asb16	A	T	11: 102,159,766 (GRCm39)	R40W	probably damaging	Het
Birc6	T	A	17: 74,947,292 (GRCm39)	S3019T	probably damaging	Het
Btbd18	T	A	2: 84,497,854 (GRCm39)	C497*	probably null	Het
Cacna1h	T	C	17: 25,602,215 (GRCm39)	M1542V	possibly damaging	Het
Ccdc8	T	G	7: 16,730,087 (GRCm39)	S525R	unknown	Het
Ch25h	G	A	19: 34,451,947 (GRCm39)	R194W	probably damaging	Het
Ciapin1	C	A	8: 95,555,065 (GRCm39)	L130F	probably damaging	Het
Cnfn	G	T	7: 25,067,515 (GRCm39)	T54N	probably damaging	Het
Cop1	A	T	1: 159,076,783 (GRCm39)	I195F	probably damaging	Het
Daam1	A	G	12: 71,991,147 (GRCm39)	R254G	unknown	Het
Dcaf13	T	C	15: 39,001,496 (GRCm39)	M268T	possibly damaging	Het
Disp3	C	A	4: 148,345,611 (GRCm39)	V410L	probably damaging	Het
Dus4l	A	T	12: 31,696,647 (GRCm39)	I110K	probably damaging	Het
Endov	C	T	11: 119,398,048 (GRCm39)	P271L	probably damaging	Het
Epha2	A	G	4: 141,047,834 (GRCm39)	I539V	probably benign	Het
Ercc4	A	T	16: 12,950,810 (GRCm39)	I635L	probably damaging	Het
Exosc10	A	G	4: 148,649,704 (GRCm39)	D378G	probably damaging	Het
Fmnl1	A	G	11: 103,086,297 (GRCm39)	D804G	unknown	Het
Gm11983	T	A	11: 6,787,020 (GRCm39)	I36F	unknown	Het
Gm11992	A	T	11: 9,006,438 (GRCm39)	I123L	probably benign	Het
Gm19965	T	C	1: 116,730,838 (GRCm39)		probably benign	Het
Gm19965	A	G	1: 116,749,210 (GRCm39)	D297G		Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gse1	T	C	8: 120,956,280 (GRCm39)	V257A	unknown	Het
Haus1	A	T	18: 77,847,202 (GRCm39)	S225T	probably benign	Het
Hgf	A	G	5: 16,777,534 (GRCm39)	Y177C	probably damaging	Het
Insig1	T	C	5: 28,279,546 (GRCm39)	W184R	probably damaging	Het
Krt5	A	T	15: 101,616,141 (GRCm39)	S491R	unknown	Het
Lcn5	A	G	2: 25,550,142 (GRCm39)	I110V	probably benign	Het
Lin9	A	T	1: 180,496,733 (GRCm39)	S341C	possibly damaging	Het
Magi2	C	T	5: 20,670,864 (GRCm39)	H403Y	probably benign	Het
Mapk1ip1l	C	T	14: 47,548,340 (GRCm39)	P163S	probably damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mdp1	A	G	14: 55,896,704 (GRCm39)	V119A	probably benign	Het
Me1	A	G	9: 86,469,047 (GRCm39)	I506T	probably damaging	Het
Med1	A	G	11: 98,061,772 (GRCm39)		probably null	Het
Med25	T	A	7: 44,529,524 (GRCm39)	Q656L	probably benign	Het
Memo1	A	C	17: 74,524,041 (GRCm39)	I213S	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mpi	T	C	9: 57,452,539 (GRCm39)	D331G	probably benign	Het
Muc4	T	C	16: 32,574,712 (GRCm39)	I1054T	probably benign	Het
Nat10	T	C	2: 103,556,040 (GRCm39)	E927G	possibly damaging	Het
Nlrp9a	T	C	7: 26,275,033 (GRCm39)	L930P	unknown	Het
Ogdh	T	C	11: 6,289,209 (GRCm39)	S308P	probably damaging	Het
Or2y1b	A	G	11: 49,208,390 (GRCm39)	I6V	probably benign	Het
Or4c108	T	G	2: 88,803,615 (GRCm39)	I207L	probably benign	Het
Or52e5	T	A	7: 104,719,283 (GRCm39)	V203D	probably damaging	Het
Or8b9	G	A	9: 37,766,671 (GRCm39)	E186K	probably benign	Het
Parl	A	G	16: 20,105,690 (GRCm39)	V244A	probably benign	Het
Parp14	G	T	16: 35,661,252 (GRCm39)	D1565E	probably damaging	Het
Parp14	T	C	16: 35,661,251 (GRCm39)	K1566E	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,606 (GRCm39)	I312K	possibly damaging	Het
Pcnp	A	T	16: 55,844,867 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Rab10	T	A	12: 3,306,947 (GRCm39)	M83L	probably benign	Het
Rabep1	A	G	11: 70,814,029 (GRCm39)	S616G	probably benign	Het
Rnf213	G	A	11: 119,359,806 (GRCm39)	V4400M		Het
Samd9l	T	A	6: 3,375,078 (GRCm39)	I728F	possibly damaging	Het
Scaf4	T	A	16: 90,044,122 (GRCm39)	D620V	unknown	Het
Scnn1b	A	T	7: 121,498,462 (GRCm39)	M1L	probably damaging	Het
Sec23b	T	A	2: 144,428,343 (GRCm39)	M652K	probably benign	Het
Selenoi	T	C	5: 30,453,413 (GRCm39)	F44L	probably benign	Het
Slc36a3	A	T	11: 55,026,161 (GRCm39)	V219E	possibly damaging	Het
Sncaip	A	T	18: 53,038,915 (GRCm39)	Q543L	probably damaging	Het
Stmnd1	A	G	13: 46,443,224 (GRCm39)	I119V	probably damaging	Het
Strn3	T	A	12: 51,676,286 (GRCm39)	E414D	probably damaging	Het
Syne1	T	A	10: 5,297,847 (GRCm39)	H1150L	probably benign	Het
Tdrd7	A	G	4: 46,016,888 (GRCm39)	N676S	possibly damaging	Het
Tgs1	A	T	4: 3,575,071 (GRCm39)	I16F	possibly damaging	Het
Thnsl2	T	G	6: 71,108,930 (GRCm39)	T294P	possibly damaging	Het
Tmem156	A	G	5: 65,231,147 (GRCm39)	I241T	possibly damaging	Het
Unc13a	A	T	8: 72,082,197 (GRCm39)	M1689K	possibly damaging	Het
Uri1	T	C	7: 37,664,738 (GRCm39)	D318G	probably benign	Het
Vmn2r86	T	A	10: 130,285,702 (GRCm39)	Q491L	possibly damaging	Het
Vps13b	C	A	15: 35,675,033 (GRCm39)	Q1718K	possibly damaging	Het

Other mutations in Nt5c3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Nt5c3b	APN	11	100,323,735 (GRCm39)	splice site	probably benign
IGL03060:Nt5c3b	APN	11	100,327,045 (GRCm39)	missense	probably damaging	1.00
IGL03331:Nt5c3b	APN	11	100,327,041 (GRCm39)	missense	probably damaging	1.00
R0523:Nt5c3b	UTSW	11	100,327,036 (GRCm39)	missense	probably damaging	0.99
R1678:Nt5c3b	UTSW	11	100,327,036 (GRCm39)	missense	probably damaging	0.99
R1686:Nt5c3b	UTSW	11	100,330,920 (GRCm39)	splice site	probably benign
R2042:Nt5c3b	UTSW	11	100,327,020 (GRCm39)	missense	probably benign
R4580:Nt5c3b	UTSW	11	100,323,885 (GRCm39)	missense	probably damaging	1.00
R4601:Nt5c3b	UTSW	11	100,323,744 (GRCm39)	missense	probably benign	0.20
R4735:Nt5c3b	UTSW	11	100,331,732 (GRCm39)	missense	probably benign	0.34
R5328:Nt5c3b	UTSW	11	100,331,067 (GRCm39)	missense	probably damaging	1.00
R5503:Nt5c3b	UTSW	11	100,323,883 (GRCm39)	missense	probably benign	0.13
R6176:Nt5c3b	UTSW	11	100,330,974 (GRCm39)	intron	probably benign
R6966:Nt5c3b	UTSW	11	100,320,750 (GRCm39)	missense	probably benign	0.04
R7969:Nt5c3b	UTSW	11	100,325,567 (GRCm39)	missense	possibly damaging	0.88
R9776:Nt5c3b	UTSW	11	100,327,012 (GRCm39)	missense	probably benign
Z1177:Nt5c3b	UTSW	11	100,326,982 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCCATTTAAAGTAGCGCAC -3'
(R):5'- TACATGTTTGCGTGCACATG -3'

Sequencing Primer
(F):5'- CTATGAAGCCAAGTGCCGTGATTC -3'
(R):5'- CACATGTGCTCTATACACACAC -3'

Posted On

2022-10-06