Mutagenetix > Incidental Mutation

Incidental Mutation 'R5507:Nt5dc1'

430990

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc1

Ensembl Gene

ENSMUSG00000039480

Gene Name

5'-nucleotidase domain containing 1

Synonyms

6030401B09Rik, Nt5c2l1

MMRRC Submission

043068-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34179605-34294585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34273226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 191 (C191S)

Ref Sequence

ENSEMBL: ENSMUSP00000097553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047885] [ENSMUST00000099973] [ENSMUST00000105511] [ENSMUST00000105512] [ENSMUST00000213269]

AlphaFold

Q8C5P5

Predicted Effect

probably benign
Transcript: ENSMUST00000047885

SMART Domains

Protein: ENSMUSP00000047126
Gene: ENSMUSG00000039480

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	1	382	2.6e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099973
AA Change: C191S

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

SMART Domains

Protein: ENSMUSP00000097553
Gene: ENSMUSG00000039480
AA Change: C191S

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	1	189	8.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105511

SMART Domains

Protein: ENSMUSP00000101150
Gene: ENSMUSG00000039462

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	60	101	N/A	INTRINSIC
Pfam:Collagen	103	155	1.4e-9	PFAM
Pfam:Collagen	153	218	1.4e-8	PFAM
Pfam:Collagen	193	250	2.6e-9	PFAM
Pfam:Collagen	206	264	3.8e-8	PFAM
low complexity region	282	323	N/A	INTRINSIC
internal_repeat_2	329	361	2.25e-6	PROSPERO
internal_repeat_1	331	365	5.9e-14	PROSPERO
low complexity region	368	383	N/A	INTRINSIC
low complexity region	391	410	N/A	INTRINSIC
Pfam:Collagen	413	483	9.3e-10	PFAM
low complexity region	487	517	N/A	INTRINSIC
C1Q	545	680	2.85e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105512

SMART Domains

Protein: ENSMUSP00000101151
Gene: ENSMUSG00000039480

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	1	372	8.7e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130290

Predicted Effect

probably benign
Transcript: ENSMUST00000213269

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,084 (GRCm39)	T97A	probably damaging	Het
1700017N19Rik	T	C	10: 100,445,095 (GRCm39)	S27P	probably benign	Het
Acoxl	C	A	2: 127,726,394 (GRCm39)	A256E	probably damaging	Het
Akap9	A	G	5: 4,018,683 (GRCm39)	E1088G	probably benign	Het
Alox12	T	C	11: 70,145,238 (GRCm39)	T112A	possibly damaging	Het
Ampd2	A	G	3: 107,984,929 (GRCm39)	V379A	probably damaging	Het
Ap4e1	C	A	2: 126,850,818 (GRCm39)	H49N	probably damaging	Het
Arhgap11a	T	C	2: 113,672,023 (GRCm39)	T260A	probably benign	Het
Atg2a	T	C	19: 6,295,100 (GRCm39)	F171S	possibly damaging	Het
Bpifb9b	A	T	2: 154,158,947 (GRCm39)	Y488F	possibly damaging	Het
C2cd2	T	C	16: 97,682,820 (GRCm39)	T139A	probably benign	Het
Cct8l1	A	T	5: 25,721,377 (GRCm39)	T31S	probably benign	Het
Cdhr1	A	T	14: 36,804,802 (GRCm39)	N469K	probably damaging	Het
Chga	T	C	12: 102,528,868 (GRCm39)	S282P	probably benign	Het
Chrnb4	T	G	9: 54,942,296 (GRCm39)	H326P	probably damaging	Het
Cntnap1	A	G	11: 101,074,303 (GRCm39)	T748A	probably benign	Het
Cpsf3	T	A	12: 21,347,929 (GRCm39)	L250H	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dppa5a	T	A	9: 78,275,353 (GRCm39)	D10V	possibly damaging	Het
Dsc2	G	A	18: 20,179,336 (GRCm39)	T244I	probably damaging	Het
Elavl4	T	C	4: 110,070,403 (GRCm39)	T144A	probably benign	Het
Ephb1	C	T	9: 101,813,315 (GRCm39)	V776M	probably damaging	Het
Fcrl1	C	T	3: 87,298,549 (GRCm39)	S348F	probably benign	Het
Fga	T	A	3: 82,940,643 (GRCm39)	W766R	probably damaging	Het
Galnt14	A	G	17: 73,802,661 (GRCm39)	V477A	probably damaging	Het
Gcdh	A	G	8: 85,619,486 (GRCm39)	L103P	probably damaging	Het
Gm27013	G	A	6: 130,652,942 (GRCm39)	T840I	probably damaging	Het
Gpr179	A	T	11: 97,229,156 (GRCm39)	W1000R	probably damaging	Het
Hectd4	C	T	5: 121,419,164 (GRCm39)	A581V	unknown	Het
Ints12	T	A	3: 132,814,921 (GRCm39)	V376E	probably damaging	Het
Krt77	T	C	15: 101,769,665 (GRCm39)	I402V	probably benign	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Meis1	A	T	11: 18,966,168 (GRCm39)	N68K	probably benign	Het
Mthfd1l	A	G	10: 4,056,432 (GRCm39)	E916G	probably benign	Het
Muc5ac	T	C	7: 141,361,569 (GRCm39)	F1627L	possibly damaging	Het
Myef2	A	T	2: 124,958,623 (GRCm39)	M102K	probably benign	Het
Naip6	A	C	13: 100,435,423 (GRCm39)	H1033Q	probably benign	Het
Nid1	T	A	13: 13,663,622 (GRCm39)	C760*	probably null	Het
Nup214	A	G	2: 31,878,188 (GRCm39)	E285G	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or5t9	T	A	2: 86,659,661 (GRCm39)	H188Q	probably damaging	Het
Otog	A	G	7: 45,911,123 (GRCm39)	E658G	probably damaging	Het
Pam16	G	T	16: 4,435,880 (GRCm39)		probably benign	Het
Psg17	T	C	7: 18,553,851 (GRCm39)	D133G	probably benign	Het
Rabgap1l	A	G	1: 160,178,898 (GRCm39)	S21P	possibly damaging	Het
Rgs22	T	A	15: 36,099,798 (GRCm39)	M306L	probably damaging	Het
Ruvbl1	A	G	6: 88,444,582 (GRCm39)	K59R	probably benign	Het
Samd9l	T	C	6: 3,373,898 (GRCm39)	E1121G	possibly damaging	Het
Serpinb13	A	G	1: 106,926,332 (GRCm39)	N169S	probably benign	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Syn3	A	T	10: 85,916,090 (GRCm39)	S299T	probably benign	Het
Taar7a	A	G	10: 23,868,529 (GRCm39)	L284P	probably damaging	Het
Tlr6	C	A	5: 65,110,749 (GRCm39)	Q719H	probably damaging	Het
Tmem131	T	A	1: 36,928,361 (GRCm39)	D76V	probably damaging	Het
Tradd	T	G	8: 105,986,257 (GRCm39)	D145A	possibly damaging	Het
Usp20	A	T	2: 30,900,238 (GRCm39)	M251L	probably benign	Het
Vmn2r96	T	A	17: 18,818,091 (GRCm39)	L556Q	probably damaging	Het
Xrcc2	A	G	5: 25,897,317 (GRCm39)	S211P	probably benign	Het

Other mutations in Nt5dc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Nt5dc1	APN	10	34,283,553 (GRCm39)	missense	possibly damaging	0.80
IGL02096:Nt5dc1	APN	10	34,275,806 (GRCm39)	nonsense	probably null
IGL02471:Nt5dc1	APN	10	34,279,721 (GRCm39)	missense	probably benign	0.03
IGL03345:Nt5dc1	APN	10	34,200,458 (GRCm39)	missense	probably benign	0.04
R0083:Nt5dc1	UTSW	10	34,279,760 (GRCm39)	missense	probably damaging	0.98
R1159:Nt5dc1	UTSW	10	34,274,169 (GRCm39)	missense	possibly damaging	0.93
R1898:Nt5dc1	UTSW	10	34,189,631 (GRCm39)	missense	probably benign	0.00
R1901:Nt5dc1	UTSW	10	34,189,667 (GRCm39)	missense	probably damaging	1.00
R2327:Nt5dc1	UTSW	10	34,189,673 (GRCm39)	missense	possibly damaging	0.66
R4365:Nt5dc1	UTSW	10	34,186,377 (GRCm39)	missense	probably benign	0.20
R4942:Nt5dc1	UTSW	10	34,198,673 (GRCm39)	missense	probably damaging	1.00
R4943:Nt5dc1	UTSW	10	34,186,387 (GRCm39)	missense	probably damaging	1.00
R5168:Nt5dc1	UTSW	10	34,273,236 (GRCm39)	missense	probably benign	0.05
R5605:Nt5dc1	UTSW	10	34,279,691 (GRCm39)	missense	probably benign	0.12
R6406:Nt5dc1	UTSW	10	34,200,404 (GRCm39)	missense	probably benign	0.04
R6495:Nt5dc1	UTSW	10	34,200,365 (GRCm39)	missense	probably damaging	1.00
R6799:Nt5dc1	UTSW	10	34,189,703 (GRCm39)	missense	possibly damaging	0.79
R6835:Nt5dc1	UTSW	10	34,186,375 (GRCm39)	missense	probably benign	0.04
R7480:Nt5dc1	UTSW	10	34,200,450 (GRCm39)	missense	probably damaging	1.00
R7480:Nt5dc1	UTSW	10	34,200,449 (GRCm39)	missense	probably damaging	1.00
R7486:Nt5dc1	UTSW	10	34,275,805 (GRCm39)	missense	probably benign	0.26
R7493:Nt5dc1	UTSW	10	34,180,932 (GRCm39)	missense	probably benign	0.00
R7638:Nt5dc1	UTSW	10	34,190,792 (GRCm39)	missense	probably benign	0.04
R8042:Nt5dc1	UTSW	10	34,273,210 (GRCm39)	missense	probably benign	0.19
R8160:Nt5dc1	UTSW	10	34,200,392 (GRCm39)	missense	possibly damaging	0.79
R8268:Nt5dc1	UTSW	10	34,186,407 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCGGAGTATTTAATCTACTTGG -3'
(R):5'- CTCCTTTTCAGTAAATCAAGCCAC -3'

Sequencing Primer
(F):5'- CAGCTTTACAGCTTCGCA -3'
(R):5'- TGTGTGATACCGTCTTCC -3'

Posted On

2016-10-05