Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02901:Nxf7'

363614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxf7

Ensembl Gene

ENSMUSG00000031410

Gene Name

nuclear RNA export factor 7

Synonyms

nxf-a2, nfx-a1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02901

Quality Score

Status

Chromosome

Chromosomal Location

134480304-134499526 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 134487984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033784] [ENSMUST00000033784] [ENSMUST00000113163] [ENSMUST00000113163] [ENSMUST00000141310] [ENSMUST00000150900]

AlphaFold

Q80SZ6

Predicted Effect

probably null
Transcript: ENSMUST00000033784

SMART Domains

Protein: ENSMUSP00000033784
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	116	203	1.9e-42	PFAM
low complexity region	269	280	N/A	INTRINSIC
Pfam:LRR_4	294	346	9.2e-8	PFAM
Pfam:NTF2	389	537	1.1e-12	PFAM
TAP_C	557	620	5.03e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000033784

SMART Domains

Protein: ENSMUSP00000033784
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	116	203	1.9e-42	PFAM
low complexity region	269	280	N/A	INTRINSIC
Pfam:LRR_4	294	346	9.2e-8	PFAM
Pfam:NTF2	389	537	1.1e-12	PFAM
TAP_C	557	620	5.03e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113163

SMART Domains

Protein: ENSMUSP00000108788
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	119	202	4.8e-37	PFAM
low complexity region	269	280	N/A	INTRINSIC
Pfam:NTF2	389	537	1.8e-12	PFAM
TAP_C	557	620	5.03e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113163

SMART Domains

Protein: ENSMUSP00000108788
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	119	202	4.8e-37	PFAM
low complexity region	269	280	N/A	INTRINSIC
Pfam:NTF2	389	537	1.8e-12	PFAM
TAP_C	557	620	5.03e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127202

Predicted Effect

probably null
Transcript: ENSMUST00000137977

SMART Domains

Protein: ENSMUSP00000122993
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	10	93	9.6e-38	PFAM
Pfam:NTF2	244	392	2.6e-13	PFAM
TAP_C	412	475	5.03e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000137977

SMART Domains

Protein: ENSMUSP00000122993
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	10	93	9.6e-38	PFAM
Pfam:NTF2	244	392	2.6e-13	PFAM
TAP_C	412	475	5.03e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141310

SMART Domains

Protein: ENSMUSP00000117622
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	106	127	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150900

SMART Domains

Protein: ENSMUSP00000119764
Gene: ENSMUSG00000031410

Domain	Start	End	E-Value	Type
Pfam:Tap-RNA_bind	106	156	1.3e-27	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,524 (GRCm39)	Y189N	probably damaging	Het
Ahdc1	A	G	4: 132,792,245 (GRCm39)	D1162G	possibly damaging	Het
Alpk2	A	G	18: 65,439,482 (GRCm39)	M637T	probably benign	Het
Arvcf	G	A	16: 18,216,992 (GRCm39)	A440T	probably damaging	Het
BC051665	A	T	13: 60,932,532 (GRCm39)	V51E	probably damaging	Het
Clca3a2	A	T	3: 144,522,529 (GRCm39)	V164E	probably damaging	Het
Cox6a2	A	C	7: 127,805,454 (GRCm39)	L5R	probably damaging	Het
Cpsf1	A	T	15: 76,483,696 (GRCm39)	L849*	probably null	Het
Dclk1	A	G	3: 55,395,208 (GRCm39)		probably benign	Het
Fam120b	T	A	17: 15,627,964 (GRCm39)		probably benign	Het
Iqub	A	G	6: 24,454,194 (GRCm39)	L563P	probably damaging	Het
Itgb3	A	T	11: 104,528,772 (GRCm39)	I300F	probably benign	Het
Mdga2	A	G	12: 66,844,583 (GRCm39)		probably benign	Het
Mfsd6	A	G	1: 52,747,632 (GRCm39)	I411T	probably benign	Het
Misp	A	T	10: 79,662,771 (GRCm39)	Y396F	possibly damaging	Het
Nhsl2	T	A	X: 101,122,849 (GRCm39)	V884D	probably benign	Het
Or10al4	T	A	17: 38,037,311 (GRCm39)	I132K	probably damaging	Het
Or4b12	G	A	2: 90,096,052 (GRCm39)	H241Y	probably damaging	Het
Palld	T	A	8: 62,330,029 (GRCm39)	K283*	probably null	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Proc	T	G	18: 32,256,678 (GRCm39)	T330P	possibly damaging	Het
Prpf38a	T	C	4: 108,425,615 (GRCm39)	D221G	probably damaging	Het
Prss55	T	A	14: 64,314,576 (GRCm39)	N198I	probably damaging	Het
Rabggta	A	G	14: 55,959,138 (GRCm39)	S10P	probably benign	Het
Sbk2	A	G	7: 4,960,289 (GRCm39)	Y294H	possibly damaging	Het
Smyd1	A	G	6: 71,215,614 (GRCm39)	V115A	probably benign	Het
Trpm7	A	G	2: 126,649,207 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,787,347 (GRCm39)	N751S	probably damaging	Het
Upk1a	A	T	7: 30,303,204 (GRCm39)	M241K	possibly damaging	Het
Vmn2r71	A	C	7: 85,268,470 (GRCm39)	E224D	probably benign	Het
Vmn2r81	C	T	10: 79,106,564 (GRCm39)	T514I	probably damaging	Het
Zkscan16	T	C	4: 58,946,283 (GRCm39)	W53R	probably damaging	Het

Other mutations in Nxf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02965:Nxf7	APN	X	134,490,159 (GRCm39)	missense	probably damaging	1.00
IGL03388:Nxf7	APN	X	134,485,489 (GRCm39)	missense	probably damaging	0.97
R0389:Nxf7	UTSW	X	134,485,132 (GRCm39)	missense	possibly damaging	0.58
R8813:Nxf7	UTSW	X	134,484,515 (GRCm39)	missense	possibly damaging	0.78
Z1177:Nxf7	UTSW	X	134,488,774 (GRCm39)	missense	probably benign

Posted On

2015-12-18