Mutagenetix > Incidental Mutation

Incidental Mutation 'R7548:Nme3'

584348

Institutional Source

Beutler Lab

Gene Symbol

Nme3

Ensembl Gene

ENSMUSG00000073435

Gene Name

NME/NM23 nucleoside diphosphate kinase 3

Synonyms

Ndk3, non-metastatic cells 3, protein expressed in, Nm23-M3, DR-nm23, 1810009F08Rik

MMRRC Submission

045619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R7548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25115474-25116496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25115522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 12 (L12P)

Ref Sequence

ENSEMBL: ENSMUSP00000024978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024976] [ENSMUST00000024978] [ENSMUST00000043907] [ENSMUST00000068508] [ENSMUST00000088345] [ENSMUST00000115228] [ENSMUST00000115229] [ENSMUST00000117509] [ENSMUST00000117890] [ENSMUST00000119115] [ENSMUST00000119829] [ENSMUST00000119848] [ENSMUST00000120035] [ENSMUST00000120943] [ENSMUST00000121542] [ENSMUST00000121723] [ENSMUST00000121787] [ENSMUST00000139754] [ENSMUST00000146923] [ENSMUST00000154236] [ENSMUST00000168265] [ENSMUST00000178969]

AlphaFold

Q9WV85

Predicted Effect

probably benign
Transcript: ENSMUST00000024976

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC
Pfam:SPRY	181	304	5.7e-18	PFAM
SOCS_box	309	347	2.8e0	SMART
low complexity region	364	373	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000024978
AA Change: L12P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024978
Gene: ENSMUSG00000073435
AA Change: L12P

Domain	Start	End	E-Value	Type
NDK	21	158	1.06e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043907

SMART Domains

Protein: ENSMUSP00000045111
Gene: ENSMUSG00000038880

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
Pfam:MRP-S34	61	187	5.3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068508

SMART Domains

Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	252	1.3e-13	PFAM
low complexity region	295	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088345

SMART Domains

Protein: ENSMUSP00000085683
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115228

SMART Domains

Protein: ENSMUSP00000110883
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	411	466	7e-20	PDB
low complexity region	567	581	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
low complexity region	878	886	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC
SCOP:d1flga_	972	1152	3e-8	SMART
Blast:WD40	1060	1101	6e-18	BLAST
low complexity region	1245	1261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115229

SMART Domains

Protein: ENSMUSP00000110884
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	184	2.9e-60	PFAM
low complexity region	244	257	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:JIP_LZII	423	493	3.1e-32	PFAM
coiled coil region	533	563	N/A	INTRINSIC
low complexity region	590	604	N/A	INTRINSIC
low complexity region	762	777	N/A	INTRINSIC
low complexity region	901	909	N/A	INTRINSIC
low complexity region	936	948	N/A	INTRINSIC
SCOP:d1flga_	995	1175	4e-8	SMART
Blast:WD40	1083	1124	7e-18	BLAST
low complexity region	1268	1284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117509

SMART Domains

Protein: ENSMUSP00000112712
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	238	247	N/A	INTRINSIC
PDB:2W83\|D	394	449	7e-20	PDB
coiled coil region	502	532	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	731	746	N/A	INTRINSIC
low complexity region	870	878	N/A	INTRINSIC
low complexity region	905	917	N/A	INTRINSIC
SCOP:d1flga_	964	1144	3e-8	SMART
Blast:WD40	1052	1093	6e-18	BLAST
low complexity region	1237	1253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117890

SMART Domains

Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119115

SMART Domains

Protein: ENSMUSP00000112955
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.3e-72	PFAM
low complexity region	229	238	N/A	INTRINSIC
PDB:2W83\|D	385	440	7e-20	PDB
coiled coil region	493	523	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	722	737	N/A	INTRINSIC
low complexity region	861	869	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
SCOP:d1flga_	955	1135	3e-8	SMART
Blast:WD40	1043	1084	5e-18	BLAST
low complexity region	1228	1244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119829

SMART Domains

Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	294	6.9e-16	PFAM
SOCS_box	299	337	2.8e0	SMART
low complexity region	354	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119848

SMART Domains

Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ERCC4	71	320	8.51e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120035

SMART Domains

Protein: ENSMUSP00000114084
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	235	248	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
PDB:2W83\|D	416	471	6e-20	PDB
coiled coil region	524	554	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
low complexity region	753	768	N/A	INTRINSIC
low complexity region	892	900	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC
SCOP:d1flga_	986	1166	3e-8	SMART
Blast:WD40	1074	1115	6e-18	BLAST
low complexity region	1259	1275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120943

SMART Domains

Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121542

SMART Domains

Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ERCC4	71	320	1.4e-23	SMART
low complexity region	366	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121723

SMART Domains

Protein: ENSMUSP00000113698
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1e-72	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	386	441	7e-20	PDB
coiled coil region	494	524	N/A	INTRINSIC
low complexity region	551	565	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	862	870	N/A	INTRINSIC
low complexity region	897	909	N/A	INTRINSIC
SCOP:d1flga_	956	1136	3e-8	SMART
Blast:WD40	1044	1085	5e-18	BLAST
low complexity region	1229	1245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121787

SMART Domains

Protein: ENSMUSP00000113753
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	3.8e-73	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	380	435	8e-20	PDB
coiled coil region	488	518	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
low complexity region	717	732	N/A	INTRINSIC
low complexity region	856	864	N/A	INTRINSIC
low complexity region	891	903	N/A	INTRINSIC
SCOP:d1flga_	950	1130	3e-8	SMART
Blast:WD40	1038	1079	6e-18	BLAST
low complexity region	1223	1239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139754

SMART Domains

Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146923

SMART Domains

Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154236

SMART Domains

Protein: ENSMUSP00000120985
Gene: ENSMUSG00000038880

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
low complexity region	59	79	N/A	INTRINSIC
Blast:NDK	172	208	3e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000168265

SMART Domains

Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
low complexity region	145	156	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
low complexity region	184	195	N/A	INTRINSIC
low complexity region	244	255	N/A	INTRINSIC
Pfam:SPRY	294	416	5.8e-20	PFAM
SOCS_box	420	458	2.8e0	SMART
low complexity region	475	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178969

SMART Domains

Protein: ENSMUSP00000136924
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.1e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	3e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Meta Mutation Damage Score

0.2252

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

PHENOTYPE: Mice heterozygous for a knock-out allele exhibit transmission distortion ratio of the t-haplotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,016,059 (GRCm39)	S146N	possibly damaging	Het
Acr	T	C	15: 89,458,596 (GRCm39)	S426P	possibly damaging	Het
Arl6ip1	A	T	7: 117,725,733 (GRCm39)	I59N	probably damaging	Het
Atp2b4	A	T	1: 133,629,379 (GRCm39)	*81K	probably null	Het
Atp8a1	T	A	5: 67,973,071 (GRCm39)	R26*	probably null	Het
Atp8b4	T	A	2: 126,231,262 (GRCm39)	Q453L	probably benign	Het
B4galt4	A	G	16: 38,574,428 (GRCm39)	E134G	probably damaging	Het
Bcl9	G	A	3: 97,113,209 (GRCm39)	T1082I	probably damaging	Het
Catsperg2	A	G	7: 29,409,251 (GRCm39)	F617L	probably benign	Het
Ccdc15	T	C	9: 37,188,723 (GRCm39)	N800S	probably benign	Het
Cd300ld	T	C	11: 114,878,248 (GRCm39)	D88G	probably benign	Het
Ceacam2	A	T	7: 25,229,958 (GRCm39)	V216E	probably benign	Het
Cecr2	T	A	6: 120,738,675 (GRCm39)	M356K		Het
Cenpm	T	C	15: 82,128,880 (GRCm39)	M1V	probably null	Het
Ces2e	A	G	8: 105,658,538 (GRCm39)	E401G	probably benign	Het
Cib3	C	A	8: 72,961,041 (GRCm39)	L65F	probably damaging	Het
Clip4	C	G	17: 72,096,963 (GRCm39)	T29R	probably benign	Het
Cnot7	A	G	8: 40,953,874 (GRCm39)	I131T	probably damaging	Het
Cntn5	A	T	9: 9,673,415 (GRCm39)		probably null	Het
Col11a1	A	C	3: 113,917,409 (GRCm39)	H732P	unknown	Het
Coq4	A	T	2: 29,685,420 (GRCm39)	T145S	possibly damaging	Het
Cwf19l1	T	C	19: 44,098,989 (GRCm39)	D527G	probably benign	Het
Cyp3a25	T	C	5: 145,923,735 (GRCm39)	I303V	probably damaging	Het
Dab2	C	T	15: 6,459,399 (GRCm39)	T437I	possibly damaging	Het
Dlc1	A	G	8: 37,051,809 (GRCm39)	S190P	probably benign	Het
Dnah6	G	A	6: 73,004,423 (GRCm39)	L3847F	probably damaging	Het
Dnmbp	T	C	19: 43,877,838 (GRCm39)	E411G	probably benign	Het
Dpp8	T	C	9: 64,944,517 (GRCm39)	Y95H	probably damaging	Het
Emb	T	A	13: 117,408,590 (GRCm39)	D310E	possibly damaging	Het
Eml4	C	A	17: 83,732,766 (GRCm39)	Q140K	probably benign	Het
Epb41l3	T	C	17: 69,517,271 (GRCm39)	S100P	probably damaging	Het
Fat4	A	T	3: 39,035,263 (GRCm39)	T2972S	probably benign	Het
Fignl2	T	C	15: 100,951,079 (GRCm39)	E401G	unknown	Het
Fryl	T	A	5: 73,349,105 (GRCm39)	D19V	unknown	Het
Gck	C	T	11: 5,852,040 (GRCm39)	G16R		Het
Gm3371	T	C	14: 44,648,145 (GRCm39)	M1V	probably null	Het
Hlcs	T	A	16: 93,933,876 (GRCm39)	K661*	probably null	Het
Il17re	C	G	6: 113,443,348 (GRCm39)	P363A	probably damaging	Het
Kif24	C	T	4: 41,423,601 (GRCm39)	E217K	possibly damaging	Het
Klhdc7b	T	C	15: 89,272,907 (GRCm39)	I605T	probably damaging	Het
Krt31	T	C	11: 99,940,346 (GRCm39)	T170A	probably damaging	Het
Lgals3bp	T	C	11: 118,287,669 (GRCm39)	D126G	probably benign	Het
Lig1	T	A	7: 13,035,344 (GRCm39)	F601Y	possibly damaging	Het
Lrp6	A	G	6: 134,484,471 (GRCm39)	I384T	probably damaging	Het
Mfap5	A	T	6: 122,502,993 (GRCm39)	T102S	probably benign	Het
Mfsd6	A	G	1: 52,702,446 (GRCm39)	F600S	possibly damaging	Het
Nlrp4a	G	A	7: 26,149,604 (GRCm39)	E404K	probably damaging	Het
Nxpe5	A	T	5: 138,249,493 (GRCm39)	T428S	probably benign	Het
Or1e26	G	A	11: 73,479,802 (GRCm39)	T254I	possibly damaging	Het
Or4c122	T	C	2: 89,079,430 (GRCm39)	T191A	probably benign	Het
Prr5	C	A	15: 84,641,259 (GRCm39)	P175Q	possibly damaging	Het
Psmc6	T	C	14: 45,572,375 (GRCm39)	Y110H	probably benign	Het
Pthlh	T	A	6: 147,158,653 (GRCm39)	R102S	possibly damaging	Het
Ric8b	G	T	10: 84,783,736 (GRCm39)	S198I	probably damaging	Het
Rrp7a	C	A	15: 83,001,871 (GRCm39)	R212S	possibly damaging	Het
Rubcnl	T	C	14: 75,279,792 (GRCm39)	Y392H	probably benign	Het
Sag	G	A	1: 87,772,638 (GRCm39)	V369I	probably benign	Het
Sar1b	A	G	11: 51,680,094 (GRCm39)	E140G	probably benign	Het
Sema3d	T	A	5: 12,627,783 (GRCm39)	M658K	unknown	Het
Skor2	C	T	18: 76,948,600 (GRCm39)	S774F	possibly damaging	Het
Slc1a6	G	T	10: 78,650,265 (GRCm39)	R501L	probably damaging	Het
Spata31d1b	A	G	13: 59,864,468 (GRCm39)	M539V	probably benign	Het
Spocd1	T	C	4: 129,823,602 (GRCm39)	L133P		Het
Sptlc1	A	T	13: 53,521,968 (GRCm39)	N96K	possibly damaging	Het
Stox1	A	T	10: 62,501,946 (GRCm39)	S205T	probably damaging	Het
Tec	T	C	5: 72,917,693 (GRCm39)	M509V	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,940,816 (GRCm39)	L499Q	probably damaging	Het
Uqcc1	A	G	2: 155,751,309 (GRCm39)	C120R	probably damaging	Het
Usp39	C	T	6: 72,321,996 (GRCm39)	S46N	possibly damaging	Het
Zbtb5	T	C	4: 44,994,724 (GRCm39)	E220G	probably benign	Het
Zfp287	A	T	11: 62,604,701 (GRCm39)	C735*	probably null	Het

Other mutations in Nme3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02883:Nme3	APN	17	25,115,880 (GRCm39)	missense	probably benign	0.32
R0348:Nme3	UTSW	17	25,115,491 (GRCm39)	missense	possibly damaging	0.95
R4943:Nme3	UTSW	17	25,115,697 (GRCm39)	missense	probably damaging	0.97
R5567:Nme3	UTSW	17	25,115,823 (GRCm39)	splice site	probably null
R6696:Nme3	UTSW	17	25,116,268 (GRCm39)	missense	possibly damaging	0.81
R6891:Nme3	UTSW	17	25,115,829 (GRCm39)	missense	probably benign	0.01
R7261:Nme3	UTSW	17	25,116,037 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTTCATTACATGTGTACCGC -3'
(R):5'- TCAAAGCGACGCACGATCTC -3'

Sequencing Primer
(F):5'- TGCTCCCGCACACTCAG -3'
(R):5'- ACGATCTCGCCCACCAG -3'

Posted On

2019-10-17