Mutagenetix > Incidental Mutation

Incidental Mutation 'R2066:Nipal4'

226696

Institutional Source

Beutler Lab

Gene Symbol

Nipal4

Ensembl Gene

ENSMUSG00000020411

Gene Name

NIPA-like domain containing 4

Synonyms

MMRRC Submission

040071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R2066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46148155-46166508 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46156795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 104 (D104A)

Ref Sequence

ENSEMBL: ENSMUSP00000020679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020679]

AlphaFold

Q8BZF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000020679
AA Change: D104A

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

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: D104A

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	56	350	1.6e-122	PFAM

Meta Mutation Damage Score

0.5061

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Acadl	C	T	1: 66,841,746		probably null	Het
Acss1	G	A	2: 150,668,131	Q23*	probably null	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ano5	T	G	7: 51,585,386	L639R	probably damaging	Het
Arhgap26	T	C	18: 39,306,728	S71P	probably damaging	Het
B3gnt2	A	G	11: 22,836,735	L151P	probably damaging	Het
Bach1	A	T	16: 87,729,625	K658N	probably damaging	Het
Bdnf	C	A	2: 109,723,902	T207K	probably damaging	Het
Bod1l	G	T	5: 41,805,156	T2746K	probably damaging	Het
Brwd1	A	G	16: 96,046,465	S652P	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Clasp2	T	A	9: 113,906,157	I1021N	possibly damaging	Het
Cnep1r1	G	T	8: 88,118,817		probably benign	Het
Cntn6	C	T	6: 104,861,822	R946*	probably null	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnajc13	A	T	9: 104,221,441	I471N	probably benign	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Emx2	A	G	19: 59,461,698	N149S	probably benign	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Filip1	A	G	9: 79,820,216	S374P	probably damaging	Het
Fry	T	A	5: 150,370,119		probably benign	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm2959	A	G	14: 42,413,701		noncoding transcript	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Hdlbp	A	G	1: 93,421,880		probably benign	Het
Hunk	G	A	16: 90,481,245		probably null	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Ints1	A	G	5: 139,767,496	V720A	probably benign	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Jpt2	G	A	17: 24,948,739	Q79*	probably null	Het
Lingo2	A	G	4: 35,709,179	L267P	probably benign	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Meiob	G	T	17: 24,818,316	R56L	probably damaging	Het
Mindy3	A	T	2: 12,419,249	S2T	probably damaging	Het
Mrm3	A	T	11: 76,250,321	D385V	probably damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nbea	A	G	3: 55,968,146	V1701A	probably damaging	Het
Npas4	A	G	19: 4,987,414	V284A	probably damaging	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Obscn	G	A	11: 59,135,732	A215V	possibly damaging	Het
Olfr1218	A	G	2: 89,054,899	Y176H	probably damaging	Het
Olfr870	G	T	9: 20,171,554	Q6K	probably benign	Het
Olfr938	T	C	9: 39,078,214	Y177C	probably damaging	Het
Pgs1	G	A	11: 118,014,570		probably benign	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Phldb2	A	T	16: 45,770,758	L970Q	probably damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Ppip5k1	A	G	2: 121,342,871		probably benign	Het
Prune2	A	G	19: 17,120,678	D1182G	possibly damaging	Het
Psg25	G	A	7: 18,529,562	T112I	probably damaging	Het
Sec61g	T	C	11: 16,508,124	T24A	probably benign	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Sorbs1	T	C	19: 40,365,028		probably null	Het
Sox2	C	A	3: 34,651,307	Q298K	possibly damaging	Het
Spatc1	T	A	15: 76,283,537		probably null	Het
Szt2	T	C	4: 118,373,980	M2529V	unknown	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tpp2	T	G	1: 43,978,438	I734S	possibly damaging	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ttc28	C	A	5: 111,225,933	F1078L	probably benign	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vstm2a	A	T	11: 16,261,483	I98F	probably benign	Het
Zdhhc13	T	A	7: 48,816,427	V284D	probably benign	Het
Zfp668	C	A	7: 127,867,031	R327L	probably damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	Het

Other mutations in Nipal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02531:Nipal4	APN	11	46151325	missense	probably damaging	1.00
IGL03203:Nipal4	APN	11	46150296	missense	probably damaging	1.00
H8786:Nipal4	UTSW	11	46150477	missense	probably damaging	1.00
R0239:Nipal4	UTSW	11	46150441	missense	possibly damaging	0.80
R0239:Nipal4	UTSW	11	46150441	missense	possibly damaging	0.80
R0331:Nipal4	UTSW	11	46150213	missense	probably damaging	1.00
R0414:Nipal4	UTSW	11	46161908	missense	probably damaging	1.00
R0613:Nipal4	UTSW	11	46150384	missense	probably benign	0.31
R0940:Nipal4	UTSW	11	46150312	missense	possibly damaging	0.48
R1797:Nipal4	UTSW	11	46151333	missense	probably benign	0.06
R1889:Nipal4	UTSW	11	46150733	missense	probably damaging	0.99
R1899:Nipal4	UTSW	11	46150231	missense	probably damaging	1.00
R1974:Nipal4	UTSW	11	46151383	missense	probably damaging	1.00
R3705:Nipal4	UTSW	11	46161851	splice site	probably benign
R3941:Nipal4	UTSW	11	46150646	missense	probably damaging	1.00
R4597:Nipal4	UTSW	11	46151329	missense	probably damaging	1.00
R4965:Nipal4	UTSW	11	46162010	missense	possibly damaging	0.68
R5888:Nipal4	UTSW	11	46151339	missense	probably damaging	0.98
R6533:Nipal4	UTSW	11	46150407	nonsense	probably null
R7444:Nipal4	UTSW	11	46166235	missense	probably benign	0.27
R8099:Nipal4	UTSW	11	46162021	missense	probably benign	0.05
R8203:Nipal4	UTSW	11	46150320	missense	probably damaging	1.00
R8825:Nipal4	UTSW	11	46162046	missense	probably benign	0.01
R8826:Nipal4	UTSW	11	46154643	missense	possibly damaging	0.63
R8881:Nipal4	UTSW	11	46151350	missense	probably benign	0.00
R9514:Nipal4	UTSW	11	46162095	critical splice acceptor site	probably null
R9768:Nipal4	UTSW	11	46150646	missense	probably damaging	1.00
X0018:Nipal4	UTSW	11	46162046	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGATTGCACAGAGTAAGATGTCTG -3'
(R):5'- GATGCGACAGATGCTGAGTG -3'

Sequencing Primer
(F):5'- GCAGAGGCAAGATTTTCCCAAG -3'
(R):5'- GTAGTTAGACACACAGCTGGATTC -3'

Posted On

2014-09-17