Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03003:Nt5c1b'

407414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nt5c1b

Ensembl Gene

ENSMUSG00000020622

Gene Name

5'-nucleotidase, cytosolic IB

Synonyms

4921514H13Rik, CN-IB

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

10369973-10390175 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10374910 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 210 (A210V)

Ref Sequence

ENSEMBL: ENSMUSP00000151627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000118657] [ENSMUST00000143739] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000218327] [ENSMUST00000218339] [ENSMUST00000218551] [ENSMUST00000218417] [ENSMUST00000219292] [ENSMUST00000219049] [ENSMUST00000220611] [ENSMUST00000220257] [ENSMUST00000219826] [ENSMUST00000223534]

Predicted Effect

probably benign
Transcript: ENSMUST00000002456
AA Change: A152V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: A152V

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

probably benign
Transcript: ENSMUST00000118657
AA Change: A150V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: A150V

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

unknown
Transcript: ENSMUST00000143739
AA Change: A152V

SMART Domains

Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622
AA Change: A152V

Domain	Start	End	E-Value	Type
low complexity region	151	163	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147323
AA Change: A152V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: A152V

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

probably benign
Transcript: ENSMUST00000217944
AA Change: A210V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218026
AA Change: A152V

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218148

Predicted Effect

probably benign
Transcript: ENSMUST00000218287
AA Change: A210V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

unknown
Transcript: ENSMUST00000218288
AA Change: A97V

Predicted Effect

probably benign
Transcript: ENSMUST00000218327
AA Change: A150V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000218339
AA Change: A150V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000218551
AA Change: A152V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000218417
AA Change: A210V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219292
AA Change: A152V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000219049
AA Change: A152V

Predicted Effect

unknown
Transcript: ENSMUST00000219630
AA Change: A41V

Predicted Effect

probably benign
Transcript: ENSMUST00000220611
AA Change: A152V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220257
AA Change: A210V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000219826
AA Change: A210V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223534
AA Change: A152V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,743,772	P577L	probably damaging	Het
Aff3	A	T	1: 38,209,570	S819T	probably damaging	Het
Aftph	G	T	11: 20,726,982	S209*	probably null	Het
Astn1	T	A	1: 158,612,395	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,671,266	K29E	probably benign	Het
Ccdc93	T	C	1: 121,463,117	S273P	possibly damaging	Het
Cd200r3	G	T	16: 44,943,775	M1I	probably null	Het
Cd200r3	C	A	16: 44,943,776	H2N	probably benign	Het
Col7a1	G	A	9: 108,974,956		probably null	Het
Cyp3a41a	T	A	5: 145,705,830	M240L	probably benign	Het
D430042O09Rik	A	T	7: 125,851,960	I1088F	probably damaging	Het
Dcstamp	T	C	15: 39,754,510	V105A	possibly damaging	Het
Dmbt1	C	A	7: 131,082,679	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,336,819	M634K	probably benign	Het
Farp2	T	C	1: 93,567,418	Y138H	probably damaging	Het
Fga	T	C	3: 83,032,730	S564P	probably damaging	Het
Gbf1	T	C	19: 46,255,655	L142S	probably damaging	Het
Gm5422	T	C	10: 31,250,844		noncoding transcript	Het
Helz2	A	G	2: 181,240,253	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,433,486	T4204K	probably damaging	Het
Ift81	T	C	5: 122,594,662	I270V	probably benign	Het
Kif6	C	T	17: 49,753,871	R411*	probably null	Het
Klhl35	T	A	7: 99,470,343	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,504,697	D1531E	probably benign	Het
Muc5b	C	A	7: 141,863,614	D3432E	probably benign	Het
Nipbl	A	T	15: 8,350,314	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,964,862	V228L	probably benign	Het
Nrap	T	C	19: 56,321,952	H1456R	probably damaging	Het
Olfr364-ps1	T	C	2: 37,146,452	V80A	probably benign	Het
Olfr46	A	G	7: 140,610,370	Y60C	probably damaging	Het
Osbpl7	T	C	11: 97,050,695	Y15H	probably benign	Het
Pde8b	T	A	13: 95,041,957	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,984,812	S280T	probably benign	Het
Pkd1	T	A	17: 24,593,603		probably null	Het
Polh	A	T	17: 46,194,366	V108E	possibly damaging	Het
Prob1	A	G	18: 35,653,375	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,583	N1557K	probably damaging	Het
Rev1	A	C	1: 38,088,073	F369V	possibly damaging	Het
Rgma	A	G	7: 73,417,440	N148D	probably damaging	Het
Robo3	A	G	9: 37,419,291	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,973,000	V137A	probably damaging	Het
Sema6c	T	C	3: 95,169,614	L337P	probably damaging	Het
Shc4	A	T	2: 125,723,333	Y15*	probably null	Het
Slc4a9	T	C	18: 36,536,893	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,206,100	N864D	probably damaging	Het
Sspo	T	C	6: 48,455,087	L745P	probably damaging	Het
Syce1l	A	G	8: 113,654,067	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,316,438	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,661,887	D7G	probably benign	Het
Tmem109	A	C	19: 10,874,331	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,039,943	R333G	probably damaging	Het
Ttn	T	G	2: 76,781,611	S17316R	probably damaging	Het
Usp10	A	G	8: 119,954,810	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,515,562	F2716I	possibly damaging	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
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
R7424:Nt5c1b	UTSW	12	10381391	splice site	probably null
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

Posted On

2016-08-02