Mutagenetix > Incidental Mutation

Incidental Mutation 'R7913:Nudt16l1'

610691

Institutional Source

Beutler Lab

Gene Symbol

Nudt16l1

Ensembl Gene

ENSMUSG00000022516

Gene Name

nudix hydrolase 16 like 1

Synonyms

nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1, 5330437I08Rik, syndesmos, 1110001K21Rik

MMRRC Submission

045961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4756975-4758892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4757245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 53 (Q53K)

Ref Sequence

ENSEMBL: ENSMUSP00000054201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023157] [ENSMUST00000023159] [ENSMUST00000050881] [ENSMUST00000070658] [ENSMUST00000229038] [ENSMUST00000229961] [ENSMUST00000230931] [ENSMUST00000230990]

AlphaFold

Q8VHN8

Predicted Effect

probably benign
Transcript: ENSMUST00000023157

SMART Domains

Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515

Domain	Start	End	E-Value	Type
ANK	34	64	1.25e2	SMART
ANK	68	97	9.93e-5	SMART
ANK	101	130	9.13e-4	SMART
ANK	134	163	2.45e-4	SMART
ANK	168	197	9.27e-5	SMART
ANK	201	230	5.87e2	SMART
SAM	421	487	9.8e-12	SMART
coiled coil region	500	533	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023159

SMART Domains

Protein: ENSMUSP00000023159
Gene: ENSMUSG00000022517

Domain	Start	End	E-Value	Type
low complexity region	205	216	N/A	INTRINSIC
low complexity region	268	278	N/A	INTRINSIC
RING	279	317	4.58e-4	SMART
low complexity region	349	360	N/A	INTRINSIC
low complexity region	443	454	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050881
AA Change: Q53K

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054201
Gene: ENSMUSG00000022516
AA Change: Q53K

Domain	Start	End	E-Value	Type
PDB:3KVH\|A	6	210	1e-133	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000070658

SMART Domains

Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517

Domain	Start	End	E-Value	Type
low complexity region	204	215	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC
RING	278	316	4.58e-4	SMART
low complexity region	348	359	N/A	INTRINSIC
low complexity region	442	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229038

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229961
AA Change: Q53K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230931
AA Change: Q53K

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000230990

Predicted Effect

probably benign
Transcript: ENSMUST00000231036

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	A	G	10: 90,896,133 (GRCm39)	V324A	probably damaging	Het
Aqp8	T	A	7: 123,063,495 (GRCm39)	I115N	possibly damaging	Het
Atrn	G	A	2: 130,812,131 (GRCm39)	C692Y	probably damaging	Het
Card10	A	T	15: 78,665,303 (GRCm39)	S717T	possibly damaging	Het
Cep78	T	C	19: 15,947,941 (GRCm39)	S408G	probably benign	Het
Col24a1	G	T	3: 145,137,621 (GRCm39)	G895*	probably null	Het
Cs	A	T	10: 128,186,310 (GRCm39)	K34N	possibly damaging	Het
Dchs1	T	C	7: 105,408,435 (GRCm39)	E1799G	possibly damaging	Het
Dlg5	A	T	14: 24,187,192 (GRCm39)		probably null	Het
Dpy19l4	A	T	4: 11,265,859 (GRCm39)	Y696*	probably null	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Fgd2	G	T	17: 29,593,019 (GRCm39)	R423L	probably damaging	Het
Fmo4	T	C	1: 162,621,741 (GRCm39)	D490G	possibly damaging	Het
Gm5113	A	T	7: 29,877,648 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,291,654 (GRCm39)	W854R	probably damaging	Het
H2-M1	T	C	17: 36,981,129 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,309,842 (GRCm39)	M694K	probably benign	Het
Hsd17b6	T	C	10: 127,833,645 (GRCm39)	T79A	possibly damaging	Het
Hspa4	A	C	11: 53,153,134 (GRCm39)	V761G	probably benign	Het
Ifi203	T	C	1: 173,754,523 (GRCm39)	Y736C	probably damaging	Het
Mettl9	T	A	7: 120,675,524 (GRCm39)	L308Q	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Ncapd3	T	A	9: 26,959,522 (GRCm39)	C319*	probably null	Het
Ncs1	C	A	2: 31,177,296 (GRCm39)		probably null	Het
Nell1	T	A	7: 49,929,270 (GRCm39)	H392Q	possibly damaging	Het
Nlrp1b	C	A	11: 71,108,537 (GRCm39)	E321D	possibly damaging	Het
Nlrp9b	A	T	7: 19,779,725 (GRCm39)	H796L	probably benign	Het
Nyap1	A	G	5: 137,733,231 (GRCm39)	S601P	probably damaging	Het
Odf2l	C	T	3: 144,859,244 (GRCm39)	Q634*	probably null	Het
Or10al2	A	T	17: 37,982,999 (GRCm39)	E28D	probably benign	Het
Or12e14	A	G	2: 87,677,037 (GRCm39)	I141V	probably benign	Het
Or1e22	A	G	11: 73,377,224 (GRCm39)	V142A	probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or5b120	T	A	19: 13,480,571 (GRCm39)	V288E	probably damaging	Het
Or5m10	T	A	2: 85,718,074 (GRCm39)	L310H	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pik3c2b	T	C	1: 133,017,799 (GRCm39)		probably null	Het
Pramel21	T	A	4: 143,341,615 (GRCm39)	Y15N	possibly damaging	Het
Prl3c1	A	G	13: 27,383,393 (GRCm39)	I40V	probably benign	Het
R3hdm4	C	T	10: 79,747,779 (GRCm39)	A229T	probably damaging	Het
Rab3gap2	T	C	1: 184,995,013 (GRCm39)	S851P	possibly damaging	Het
Ralgapb	A	T	2: 158,307,859 (GRCm39)	I1056F	probably damaging	Het
Sec16b	T	C	1: 157,356,899 (GRCm39)	Y36H	probably benign	Het
Setd3	A	T	12: 108,073,924 (GRCm39)	V451D	probably benign	Het
Slc35e1	T	C	8: 73,238,506 (GRCm39)	K334R	probably damaging	Het
Synj1	A	T	16: 90,788,315 (GRCm39)	N184K	possibly damaging	Het
Syt1	T	C	10: 108,478,109 (GRCm39)	D105G	probably benign	Het
Taar7e	T	A	10: 23,913,902 (GRCm39)	C131S	possibly damaging	Het
Tead4	A	G	6: 128,220,331 (GRCm39)		probably null	Het
Tescl	C	A	7: 24,033,076 (GRCm39)	R83L	probably damaging	Het
Ufd1	G	T	16: 18,633,616 (GRCm39)	V14F	probably benign	Het
Ugt1a10	T	A	1: 87,983,477 (GRCm39)	Y92N	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r67	G	A	7: 84,801,036 (GRCm39)	T300I	possibly damaging	Het
Wt1	T	G	2: 104,997,205 (GRCm39)	S381A	probably damaging	Het
Zbtb44	C	T	9: 30,965,504 (GRCm39)	Q305*	probably null	Het

Other mutations in Nudt16l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Nudt16l1	APN	16	4,757,299 (GRCm39)	missense	probably benign	0.10
IGL02802:Nudt16l1	UTSW	16	4,757,131 (GRCm39)	missense	probably damaging	1.00
R1955:Nudt16l1	UTSW	16	4,758,189 (GRCm39)	missense	probably benign	0.02
R5242:Nudt16l1	UTSW	16	4,757,485 (GRCm39)	missense	probably damaging	0.97
R7509:Nudt16l1	UTSW	16	4,757,082 (GRCm39)	missense	probably damaging	1.00
R7942:Nudt16l1	UTSW	16	4,757,243 (GRCm39)	missense	probably benign	0.21
R9154:Nudt16l1	UTSW	16	4,758,281 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTGAAACAGATCAGTCGG -3'
(R):5'- TGTTCCAATGTCAGCTGCC -3'

Sequencing Primer
(F):5'- TCAGTCGGGAGGAAGCAATGC -3'
(R):5'- TGCGTACAGATGTGCCAC -3'

Posted On

2019-12-20