Mutagenetix > Incidental Mutations

Incidental Mutation 'R7424:Nt5c1b'

610714

Institutional Source

Beutler Lab

Gene Symbol

Nt5c1b

Ensembl Gene

ENSMUSG00000020622

Gene Name

5'-nucleotidase, cytosolic IB

Synonyms

4921514H13Rik, CN-IB

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10369973-10390175 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 10381391 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000118657] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000218327] [ENSMUST00000218339] [ENSMUST00000218417] [ENSMUST00000218551] [ENSMUST00000219049] [ENSMUST00000219292] [ENSMUST00000219826] [ENSMUST00000220257] [ENSMUST00000220611] [ENSMUST00000223534]

Predicted Effect

silent
Transcript: ENSMUST00000002456

SMART Domains

Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622

Domain	Start	End	E-Value	Type
low complexity region	93	105	N/A	INTRINSIC
low complexity region	137	145	N/A	INTRINSIC
low complexity region	227	233	N/A	INTRINSIC
Pfam:5-nucleotidase	298	570	1.6e-106	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000118657

SMART Domains

Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622

Domain	Start	End	E-Value	Type
low complexity region	91	103	N/A	INTRINSIC
low complexity region	135	143	N/A	INTRINSIC
low complexity region	225	231	N/A	INTRINSIC
Pfam:5-nucleotidase	280	553	7e-112	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000147323

SMART Domains

Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622

Domain	Start	End	E-Value	Type
low complexity region	93	105	N/A	INTRINSIC
low complexity region	137	145	N/A	INTRINSIC
low complexity region	227	233	N/A	INTRINSIC
Pfam:5-nucleotidase	298	466	4.8e-62	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000217944

Predicted Effect

probably benign
Transcript: ENSMUST00000218026

Predicted Effect

probably benign
Transcript: ENSMUST00000218287

Predicted Effect

silent
Transcript: ENSMUST00000218288

Predicted Effect

probably benign
Transcript: ENSMUST00000218327

Predicted Effect

silent
Transcript: ENSMUST00000218339

Predicted Effect

probably benign
Transcript: ENSMUST00000218417

Predicted Effect

probably benign
Transcript: ENSMUST00000218551

Predicted Effect

probably benign
Transcript: ENSMUST00000219049

Predicted Effect

probably benign
Transcript: ENSMUST00000219292

Predicted Effect

probably null
Transcript: ENSMUST00000219630

Predicted Effect

silent
Transcript: ENSMUST00000219826

Predicted Effect

probably benign
Transcript: ENSMUST00000220257

Predicted Effect

silent
Transcript: ENSMUST00000220611

Predicted Effect

silent
Transcript: ENSMUST00000223534

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,545	R71C	probably damaging	Het
Aanat	A	T	11: 116,595,629		probably benign	Het
Ahrr	G	T	13: 74,257,545	S91*	probably null	Het
Ampd1	A	T	3: 103,088,442	N223Y	probably benign	Het
Ankar	T	G	1: 72,680,058	N544T	probably damaging	Het
Ankk1	A	G	9: 49,418,750	S302P	possibly damaging	Het
Bcr	T	C	10: 75,157,100	V809A	probably benign	Het
Bpifb2	A	G	2: 153,890,540	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,184,009		probably null	Het
Ddx5	A	T	11: 106,782,180	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244	I239F	probably benign	Het
Ethe1	C	T	7: 24,606,251	T141I	probably damaging	Het
Fam160b2	T	C	14: 70,594,007	H29R	probably damaging	Het
Gdap2	A	T	3: 100,202,066	I36F	unknown	Het
Gm13030	A	T	4: 138,871,266	D115E	unknown	Het
Gm13103	C	T	4: 143,853,209	P455S	probably benign	Het
Gm17019	A	T	5: 15,029,372	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,435,777	E2517D	possibly damaging	Het
Gramd2	T	A	9: 59,708,071	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,630,266	W3836*	probably null	Het
Hspa14	C	T	2: 3,489,041	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,573,198	N46S	probably benign	Het
Ifna6	A	T	4: 88,827,807	E131V	possibly damaging	Het
Ift140	T	C	17: 25,037,036	V504A	possibly damaging	Het
Irgc1	T	C	7: 24,432,228	N388S	probably damaging	Het
Itgal	T	A	7: 127,317,365	V743E	probably benign	Het
Itih5	T	C	2: 10,245,637	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,266,503	K78N	possibly damaging	Het
Kif1a	A	T	1: 93,054,317	V787E	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt39	A	T	11: 99,518,091	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,869,743	F720S	possibly damaging	Het
Map2	G	A	1: 66,414,824	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,724,097	S906P	probably benign	Het
Mdc1	T	C	17: 35,853,309	S1250P	probably benign	Het
Meltf	G	A	16: 31,884,946	V164I	probably damaging	Het
Mtap	T	G	4: 89,179,462		probably null	Het
Mtus1	C	A	8: 41,022,406	V184F	probably damaging	Het
Myh1	A	T	11: 67,213,663	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,944,938		probably null	Het
Nkd1	G	T	8: 88,585,175	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,500,753	D81G	probably benign	Het
Nucb1	T	C	7: 45,498,778	K204E	possibly damaging	Het
Nwd1	T	G	8: 72,675,173	M774R	possibly damaging	Het
Olfr165	A	T	16: 19,407,194	V274E	probably damaging	Het
Olfr262	A	T	19: 12,240,954	S236T	possibly damaging	Het
Olfr654	G	C	7: 104,588,700	E299Q	probably damaging	Het
Pan3	T	A	5: 147,536,272		probably null	Het
Pcdh15	A	T	10: 74,506,485	T1135S	probably benign	Het
Pfas	A	G	11: 69,000,092	I331T	probably damaging	Het
Plxna2	T	A	1: 194,806,339	I1641N	probably damaging	Het
Ptar1	A	T	19: 23,718,101	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,479,194	M1912R	probably damaging	Het
Rbm12	A	G	2: 156,097,303	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,322,043	D96G	probably benign	Het
Serpinb6b	T	A	13: 32,968,667	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,517,164	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,260,876	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
St8sia2	T	A	7: 73,960,902	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,734,897	I96T	possibly damaging	Het
Tab2	G	T	10: 7,907,483	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 52,038,216	E14G	probably benign	Het
Trip11	A	T	12: 101,885,198	L869H	probably damaging	Het
Tslp	T	C	18: 32,819,080	Y133H	not run	Het
Ttn	A	G	2: 76,932,143	V3374A	unknown	Het
Ttn	T	C	2: 76,740,990	I26520V	probably damaging	Het
Tubgcp2	T	A	7: 140,007,924	I263F	possibly damaging	Het
Uaca	A	G	9: 60,870,110	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235	T1021I	unknown	Het
Ush1c	T	A	7: 46,225,555	I131F	probably benign	Het
Usp24	C	A	4: 106,379,107	D997E	probably benign	Het
Usp54	T	C	14: 20,577,040	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,499,080	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,329	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,563,868	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,418,980	P612T	probably damaging	Het
Vps13d	A	T	4: 145,148,747	V1736D		Het
Zbtb11	A	T	16: 55,990,487	H336L	probably benign	Het

Other mutations in Nt5c1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Nt5c1b	APN	12	10374798	missense	probably benign	0.00
IGL01737:Nt5c1b	APN	12	10390108	missense	possibly damaging	0.93
IGL02114:Nt5c1b	APN	12	10375444	missense	probably damaging	1.00
IGL02131:Nt5c1b	APN	12	10375491	missense	possibly damaging	0.75
IGL02135:Nt5c1b	APN	12	10377194	missense	probably damaging	1.00
IGL02871:Nt5c1b	APN	12	10381325	missense	probably damaging	1.00
IGL03003:Nt5c1b	APN	12	10374910	missense	possibly damaging	0.90
IGL03327:Nt5c1b	APN	12	10374861	nonsense	probably null
R0838:Nt5c1b	UTSW	12	10375071	nonsense	probably null
R1340:Nt5c1b	UTSW	12	10377276	missense	probably damaging	1.00
R1480:Nt5c1b	UTSW	12	10374886	missense	probably damaging	1.00
R1599:Nt5c1b	UTSW	12	10390024	missense	probably damaging	1.00
R1674:Nt5c1b	UTSW	12	10370055	start gained	probably benign
R1691:Nt5c1b	UTSW	12	10375537	missense	possibly damaging	0.95
R2237:Nt5c1b	UTSW	12	10375558	missense	probably damaging	0.96
R2238:Nt5c1b	UTSW	12	10375558	missense	probably damaging	0.96
R2238:Nt5c1b	UTSW	12	10390108	missense	probably damaging	1.00
R2239:Nt5c1b	UTSW	12	10375558	missense	probably damaging	0.96
R2260:Nt5c1b	UTSW	12	10374965	missense	probably damaging	1.00
R2424:Nt5c1b	UTSW	12	10370072	missense	probably damaging	1.00
R3607:Nt5c1b	UTSW	12	10377236	missense	probably damaging	1.00
R4276:Nt5c1b	UTSW	12	10374886	missense	probably damaging	1.00
R4582:Nt5c1b	UTSW	12	10390054	missense	probably damaging	1.00
R4711:Nt5c1b	UTSW	12	10370093	missense	probably damaging	1.00
R4775:Nt5c1b	UTSW	12	10375449	missense	probably damaging	1.00
R5840:Nt5c1b	UTSW	12	10377171	missense	probably damaging	1.00
R5940:Nt5c1b	UTSW	12	10375515	missense	probably damaging	1.00
R6104:Nt5c1b	UTSW	12	10372955	missense	probably damaging	1.00
R6329:Nt5c1b	UTSW	12	10372138	nonsense	probably null
R6626:Nt5c1b	UTSW	12	10374837	nonsense	probably null
R6722:Nt5c1b	UTSW	12	10372874	missense	possibly damaging	0.48
R7491:Nt5c1b	UTSW	12	10374903	missense	probably benign	0.00
R7714:Nt5c1b	UTSW	12	10375472	missense	probably damaging	1.00
R8008:Nt5c1b	UTSW	12	10375000	missense	possibly damaging	0.59
R8711:Nt5c1b	UTSW	12	10381450	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATTTCTACGGGGAAATCGAC -3'
(R):5'- CTTACAAGCAAAGGAGTAGAATGTACC -3'

Sequencing Primer
(F):5'- CTACGGGGAAATCGACTTTACTTG -3'
(R):5'- TGGAGGAGGCCATCTAAAATTAGTTG -3'

Posted On

2019-12-26