Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Nipal1'

364223

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipal1

Ensembl Gene

ENSMUSG00000067219

Gene Name

NIPA-like domain containing 1

Synonyms

3830408G10Rik, Npal1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

72647795-72671078 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72647907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 7 (L7P)

Ref Sequence

ENSEMBL: ENSMUSP00000143667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087212] [ENSMUST00000197837]

AlphaFold

Q8BMW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000087212
AA Change: L7P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: L7P

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	66	360	6e-136	PFAM
Pfam:EamA	107	186	1.6e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197772

Predicted Effect

probably damaging
Transcript: ENSMUST00000197837
AA Change: L7P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: L7P

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	3	96	2.1e-45	PFAM
Pfam:EamA	17	96	2.8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202230

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,162,359	R716*	probably null	Het
Abca8a	A	T	11: 110,040,588	N1246K	probably damaging	Het
Acadl	A	G	1: 66,836,975	Y396H	probably benign	Het
Apol7c	A	T	15: 77,526,118	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,576,992	C990*	probably null	Het
Cachd1	C	T	4: 100,968,098	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,758	T48A	probably benign	Het
Ccdc138	G	T	10: 58,573,580		probably benign	Het
Cenpe	A	G	3: 135,264,351	E2231G	probably damaging	Het
Cog3	T	C	14: 75,741,689	I206V	probably damaging	Het
Cr2	A	G	1: 195,154,325		probably benign	Het
Ctdspl2	T	C	2: 121,979,009	V147A	probably damaging	Het
Cyp4f13	A	G	17: 32,929,871	V300A	probably damaging	Het
Dkk3	A	T	7: 112,150,747	M72K	probably damaging	Het
Dock3	A	T	9: 107,023,745	F340L	probably benign	Het
Fut1	A	G	7: 45,618,703	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 69,016,856	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,954,396	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,497,884	S1021P	probably damaging	Het
Krt13	A	C	11: 100,119,084	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,417,544	T372A	probably benign	Het
Manba	T	C	3: 135,544,749	V379A	probably benign	Het
Map1b	C	T	13: 99,435,131	V361I	probably benign	Het
Map4k1	A	G	7: 28,994,106	S399G	probably benign	Het
Mff	G	A	1: 82,747,094	R229H	probably damaging	Het
Naga	T	C	15: 82,330,200	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,025,557	M2045K	probably benign	Het
Olfr9	T	A	10: 128,990,089	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,640,727	M187K	probably benign	Het
Perp	A	T	10: 18,855,772	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,625,864	D169N	probably damaging	Het
Sel1l	G	A	12: 91,809,936	Q711*	probably null	Het
Sept5	T	C	16: 18,629,831	Y7C	probably damaging	Het
Spdya	A	T	17: 71,556,400	N48I	probably benign	Het
Stard6	T	A	18: 70,496,104		probably benign	Het
Sytl2	T	C	7: 90,375,992	V396A	probably benign	Het
Tcaf3	T	G	6: 42,593,898	M307L	probably benign	Het
Tdrd6	T	C	17: 43,627,887	N757D	probably benign	Het
Tgm1	T	A	14: 55,709,989	D305V	probably damaging	Het
Themis2	T	A	4: 132,789,551	M213L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820	V347A	probably damaging	Het
Tmem214	A	G	5: 30,871,544	E159G	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Tshz1	A	T	18: 84,013,090	S1064R	probably damaging	Het
Ubr2	C	T	17: 46,957,340	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,929	I288N	probably benign	Het
Vmn2r97	T	C	17: 18,929,685	V445A	probably benign	Het
Whrn	G	A	4: 63,416,105	T813M	probably damaging	Het
Xirp2	C	T	2: 67,515,676	H2754Y	probably benign	Het

Other mutations in Nipal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Nipal1	APN	5	72658724	missense	probably benign
IGL01894:Nipal1	APN	5	72663539	missense	probably benign	0.02
IGL01962:Nipal1	APN	5	72668058	missense	possibly damaging	0.50
IGL02145:Nipal1	APN	5	72666931	missense	probably damaging	1.00
IGL02902:Nipal1	APN	5	72668062	missense	possibly damaging	0.49
IGL03024:Nipal1	APN	5	72663625	critical splice donor site	probably null
IGL03237:Nipal1	APN	5	72666807	missense	probably damaging	0.99
R0848:Nipal1	UTSW	5	72667840	missense	probably damaging	0.99
R1024:Nipal1	UTSW	5	72667991	frame shift	probably null
R2106:Nipal1	UTSW	5	72663559	missense	probably damaging	0.99
R2883:Nipal1	UTSW	5	72667730	missense	probably damaging	1.00
R2932:Nipal1	UTSW	5	72667635	missense	possibly damaging	0.46
R5364:Nipal1	UTSW	5	72667900	missense	probably damaging	1.00
R6175:Nipal1	UTSW	5	72663555	missense	probably damaging	1.00
R6523:Nipal1	UTSW	5	72667608	missense	probably damaging	0.97
R7185:Nipal1	UTSW	5	72666855	missense	probably damaging	0.98
R7436:Nipal1	UTSW	5	72667641	missense	probably benign	0.00
R9388:Nipal1	UTSW	5	72668214	makesense	probably null
RF011:Nipal1	UTSW	5	72666813	missense	probably damaging	1.00

Posted On

2015-12-18