Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02145:Nipal1'

281731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipal1

Ensembl Gene

ENSMUSG00000067219

Gene Name

NIPA-like domain containing 1

Synonyms

Npal1, 3830408G10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL02145

Quality Score

Status

Chromosome

Chromosomal Location

72805139-72828421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72824274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 206 (D206G)

Ref Sequence

ENSEMBL: ENSMUSP00000084462 (fasta)

Gene Model

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

AlphaFold

Q8BMW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000087212
AA Change: D206G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: D206G

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

possibly damaging
Transcript: ENSMUST00000197837
AA Change: D117G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
AA Change: D117G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	A	G	8: 125,291,187 (GRCm39)	L40P	probably damaging	Het
Ahnak	T	C	19: 8,980,219 (GRCm39)	I501T	probably benign	Het
Aldh2	A	G	5: 121,706,056 (GRCm39)	*196Q	probably null	Het
Ankrd65	A	G	4: 155,875,848 (GRCm39)	D23G	possibly damaging	Het
Anln	A	T	9: 22,250,292 (GRCm39)		probably null	Het
Armc3	C	T	2: 19,301,671 (GRCm39)	S663L	possibly damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Cul5	A	T	9: 53,546,375 (GRCm39)		probably benign	Het
Cyba	T	C	8: 123,151,796 (GRCm39)	I134V	probably damaging	Het
Cybb	T	A	X: 9,323,257 (GRCm39)	Q93H	probably damaging	Het
Cyp4f37	G	T	17: 32,849,009 (GRCm39)	K292N	probably benign	Het
Dmxl2	T	C	9: 54,281,981 (GRCm39)	I2850V	probably benign	Het
Ep300	T	C	15: 81,485,367 (GRCm39)	I118T	unknown	Het
Ercc6l	G	T	X: 101,189,148 (GRCm39)	P454T	probably benign	Het
Grxcr1	A	G	5: 68,267,821 (GRCm39)	E190G	probably damaging	Het
Heatr3	C	T	8: 88,871,227 (GRCm39)	R194C	probably benign	Het
Hspa12b	C	T	2: 130,985,655 (GRCm39)		probably benign	Het
Inpp5d	T	C	1: 87,642,777 (GRCm39)	V644A	probably damaging	Het
Kif26a	G	A	12: 112,143,409 (GRCm39)	R1221H	probably benign	Het
Klra8	T	C	6: 130,102,199 (GRCm39)	N79D	probably benign	Het
Kntc1	T	C	5: 123,900,661 (GRCm39)	I253T	possibly damaging	Het
Lamp5	T	C	2: 135,901,509 (GRCm39)	V111A	possibly damaging	Het
Lmo7	T	C	14: 102,139,659 (GRCm39)	S859P	probably benign	Het
Mgarp	T	C	3: 51,296,453 (GRCm39)	Q205R	possibly damaging	Het
Morf4l1	A	G	9: 89,975,848 (GRCm39)	Y315H	probably benign	Het
Naip6	A	T	13: 100,433,486 (GRCm39)	V1117E	possibly damaging	Het
Notch3	A	G	17: 32,373,715 (GRCm39)	S498P	probably benign	Het
Npepps	A	G	11: 97,109,328 (GRCm39)		probably null	Het
Or14c46	C	A	7: 85,918,466 (GRCm39)	C177F	probably damaging	Het
Or2ak6	T	C	11: 58,592,886 (GRCm39)	Y120H	probably damaging	Het
Phlpp1	A	G	1: 106,317,613 (GRCm39)	H1278R	probably damaging	Het
Pprc1	C	A	19: 46,053,329 (GRCm39)		probably benign	Het
Rab8b	A	T	9: 66,755,000 (GRCm39)		probably benign	Het
Ripor2	T	A	13: 24,901,554 (GRCm39)	I875N	probably damaging	Het
Samd9l	T	C	6: 3,374,105 (GRCm39)	E1052G	probably benign	Het
Slit3	A	T	11: 35,520,569 (GRCm39)	I569F	probably damaging	Het
Spata2l	C	T	8: 123,960,770 (GRCm39)	G173D	possibly damaging	Het
Stc2	T	G	11: 31,317,875 (GRCm39)		probably benign	Het
Tm6sf1	C	A	7: 81,513,000 (GRCm39)	Y65*	probably null	Het
Tspan15	A	G	10: 62,029,751 (GRCm39)		probably benign	Het
Vmn2r14	A	T	5: 109,368,454 (GRCm39)	Y179*	probably null	Het
Washc5	C	A	15: 59,241,060 (GRCm39)	V92L	probably benign	Het
Wiz	A	G	17: 32,575,893 (GRCm39)	S838P	probably benign	Het
Zp2	T	A	7: 119,739,074 (GRCm39)		probably null	Het

Other mutations in Nipal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Nipal1	APN	5	72,816,067 (GRCm39)	missense	probably benign
IGL01894:Nipal1	APN	5	72,820,882 (GRCm39)	missense	probably benign	0.02
IGL01962:Nipal1	APN	5	72,825,401 (GRCm39)	missense	possibly damaging	0.50
IGL02902:Nipal1	APN	5	72,825,405 (GRCm39)	missense	possibly damaging	0.49
IGL02934:Nipal1	APN	5	72,805,250 (GRCm39)	missense	probably damaging	1.00
IGL03024:Nipal1	APN	5	72,820,968 (GRCm39)	critical splice donor site	probably null
IGL03237:Nipal1	APN	5	72,824,150 (GRCm39)	missense	probably damaging	0.99
R0848:Nipal1	UTSW	5	72,825,183 (GRCm39)	missense	probably damaging	0.99
R1024:Nipal1	UTSW	5	72,825,334 (GRCm39)	frame shift	probably null
R2106:Nipal1	UTSW	5	72,820,902 (GRCm39)	missense	probably damaging	0.99
R2883:Nipal1	UTSW	5	72,825,073 (GRCm39)	missense	probably damaging	1.00
R2932:Nipal1	UTSW	5	72,824,978 (GRCm39)	missense	possibly damaging	0.46
R5364:Nipal1	UTSW	5	72,825,243 (GRCm39)	missense	probably damaging	1.00
R6175:Nipal1	UTSW	5	72,820,898 (GRCm39)	missense	probably damaging	1.00
R6523:Nipal1	UTSW	5	72,824,951 (GRCm39)	missense	probably damaging	0.97
R7185:Nipal1	UTSW	5	72,824,198 (GRCm39)	missense	probably damaging	0.98
R7436:Nipal1	UTSW	5	72,824,984 (GRCm39)	missense	probably benign	0.00
R9388:Nipal1	UTSW	5	72,825,557 (GRCm39)	makesense	probably null
RF011:Nipal1	UTSW	5	72,824,156 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16