Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Nutf2'

65450

Institutional Source

Beutler Lab

Gene Symbol

Nutf2

Ensembl Gene

ENSMUSG00000008450

Gene Name

nuclear transport factor 2

Synonyms

PP15, Ntf2, 2700067I02Rik

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0377 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

106587212-106605962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106605504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 113 (V113D)

Ref Sequence

ENSEMBL: ENSMUSP00000148713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008594] [ENSMUST00000040254] [ENSMUST00000119261] [ENSMUST00000136048] [ENSMUST00000212042] [ENSMUST00000212200] [ENSMUST00000212610] [ENSMUST00000212484]

AlphaFold

P61971

Predicted Effect

probably damaging
Transcript: ENSMUST00000008594
AA Change: V113D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000008594
Gene: ENSMUSG00000008450
AA Change: V113D

Domain	Start	End	E-Value	Type
Pfam:NTF2	10	121	1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040254

SMART Domains

Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270

Domain	Start	End	E-Value	Type
Blast:WD40	33	93	1e-7	BLAST
low complexity region	103	110	N/A	INTRINSIC
WD40	165	205	1.99e0	SMART
low complexity region	243	253	N/A	INTRINSIC
WD40	286	325	1.38e-2	SMART
WD40	333	384	2.3e0	SMART
low complexity region	609	644	N/A	INTRINSIC
low complexity region	664	692	N/A	INTRINSIC
low complexity region	773	785	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	891	902	N/A	INTRINSIC
coiled coil region	1001	1030	N/A	INTRINSIC
low complexity region	1267	1285	N/A	INTRINSIC
PDB:2VXG\|B	1286	1402	3e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000119261

SMART Domains

Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270

Domain	Start	End	E-Value	Type
Blast:WD40	33	93	1e-7	BLAST
low complexity region	103	110	N/A	INTRINSIC
WD40	165	205	1.99e0	SMART
low complexity region	243	253	N/A	INTRINSIC
WD40	286	325	1.38e-2	SMART
WD40	333	384	2.3e0	SMART
low complexity region	609	644	N/A	INTRINSIC
low complexity region	664	692	N/A	INTRINSIC
low complexity region	773	785	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	875	886	N/A	INTRINSIC
coiled coil region	985	1014	N/A	INTRINSIC
low complexity region	1251	1269	N/A	INTRINSIC
PDB:2VXG\|B	1270	1386	3e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000136048

SMART Domains

Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270

Domain	Start	End	E-Value	Type
Blast:WD40	33	93	9e-8	BLAST
low complexity region	103	110	N/A	INTRINSIC
WD40	165	205	1.99e0	SMART
low complexity region	243	253	N/A	INTRINSIC
WD40	286	325	1.38e-2	SMART
low complexity region	549	584	N/A	INTRINSIC
low complexity region	604	632	N/A	INTRINSIC
low complexity region	713	725	N/A	INTRINSIC
low complexity region	734	748	N/A	INTRINSIC
low complexity region	829	840	N/A	INTRINSIC
low complexity region	961	990	N/A	INTRINSIC
low complexity region	1215	1233	N/A	INTRINSIC
PDB:2VXG\|B	1234	1317	1e-14	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000212042
AA Change: V113D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000212200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212398

Predicted Effect

probably benign
Transcript: ENSMUST00000212610

Predicted Effect

probably benign
Transcript: ENSMUST00000212484

Meta Mutation Damage Score

0.8118

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	Het

Other mutations in Nutf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03368:Nutf2	APN	8	106,602,232 (GRCm39)	missense	probably damaging	1.00
FR4340:Nutf2	UTSW	8	106,603,202 (GRCm39)	missense	probably damaging	1.00
R0064:Nutf2	UTSW	8	106,605,441 (GRCm39)	missense	probably damaging	0.98
R0329:Nutf2	UTSW	8	106,602,995 (GRCm39)	missense	probably damaging	1.00
R1842:Nutf2	UTSW	8	106,603,242 (GRCm39)	critical splice donor site	probably null
R4488:Nutf2	UTSW	8	106,603,059 (GRCm39)	critical splice donor site	probably null
R6562:Nutf2	UTSW	8	106,602,258 (GRCm39)	missense	probably benign	0.26
R8794:Nutf2	UTSW	8	106,602,171 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CACCTATGTGACCAGCAGTTTCCC -3'
(R):5'- ACACAAACTTCCTGTCAGATGCGAC -3'

Sequencing Primer
(F):5'- GCAGTTTCCCACATAGTAATTCACG -3'
(R):5'- CCGTGGTGACAGAAGCG -3'

Posted On

2013-08-08