Mutagenetix > Incidental Mutation

Incidental Mutation 'R9514:Nipal4'

718389

Institutional Source

Beutler Lab

Gene Symbol

Nipal4

Ensembl Gene

ENSMUSG00000020411

Gene Name

NIPA-like domain containing 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9514 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46148155-46166508 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 46162095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020679 (fasta)

Gene Model

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

AlphaFold

Q8BZF2

Predicted Effect

probably null
Transcript: ENSMUST00000020679

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411

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

Predicted Effect

probably null
Transcript: ENSMUST00000020679

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411

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

Predicted Effect

probably null
Transcript: ENSMUST00000020679

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,742,992	V338A	probably damaging	Het
1810065E05Rik	T	C	11: 58,421,707	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Acsl6	A	G	11: 54,335,054	N307D	probably benign	Het
Atxn1	A	G	13: 45,567,957	V154A	probably benign	Het
Cacna2d4	T	C	6: 119,236,650	L10S	probably benign	Het
Cd33	A	T	7: 43,532,726	H98Q	probably benign	Het
Cebpz	A	T	17: 78,932,255	M579K	probably benign	Het
Cenpk	T	G	13: 104,234,174	C103G	probably benign	Het
Cep97	T	A	16: 55,905,730	Q670L	probably benign	Het
Cfap65	C	T	1: 74,906,309		probably null	Het
Cir1	A	G	2: 73,312,437	S18P	probably damaging	Het
Coprs	T	C	8: 13,885,081	Y158C	probably damaging	Het
Creld1	T	C	6: 113,492,804	F389S	probably damaging	Het
Dimt1	T	C	13: 106,957,128	I276T	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Dsp	T	A	13: 38,187,805	C911S	probably benign	Het
Egr3	A	G	14: 70,077,529	I29V	probably benign	Het
Fam186a	A	G	15: 99,946,885	S493P	unknown	Het
Fam83a	G	A	15: 57,986,369	G103D	possibly damaging	Het
Fat2	T	A	11: 55,284,982	Q1635L	probably damaging	Het
Figla	A	C	6: 86,020,707	H139P	probably benign	Het
Fryl	T	C	5: 73,104,772	K551E	probably damaging	Het
Galr2	A	G	11: 116,283,626	T361A	probably benign	Het
Gart	A	T	16: 91,630,708	S467R	probably benign	Het
Ggps1	T	C	13: 14,055,157	K45R	probably benign	Het
Ghsr	G	C	3: 27,372,481	V229L	possibly damaging	Het
Hectd2	A	T	19: 36,605,289	H473L	possibly damaging	Het
Hic2	T	C	16: 17,258,429	V374A	possibly damaging	Het
Hist2h2ab	A	G	3: 96,220,085	E57G	probably damaging	Het
Hivep2	T	A	10: 14,129,779	I707N	probably benign	Het
Il17rc	T	C	6: 113,472,780	S116P	probably damaging	Het
Krt34	A	T	11: 100,038,400	I328N	probably damaging	Het
Krt79	G	A	15: 101,931,853	R303C	probably damaging	Het
Lama2	T	C	10: 27,224,019	E830G	probably benign	Het
Lamb2	C	T	9: 108,480,807	T149I	probably damaging	Het
Mau2	T	C	8: 70,027,503	Y318C	probably damaging	Het
Mier2	T	C	10: 79,541,662	S486G	probably benign	Het
Mllt10	A	G	2: 18,159,511	D284G	probably damaging	Het
Nbea	A	T	3: 56,029,945	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,406,213	S1724P	probably benign	Het
Nlrc4	G	C	17: 74,446,741	L216V	probably benign	Het
Ogfr	A	G	2: 180,593,624	M164V	possibly damaging	Het
Olfr1271	G	A	2: 90,266,365	Q22*	probably null	Het
Olfr99	G	T	17: 37,280,495		probably benign	Het
Pcdha12	G	T	18: 37,022,473	W748C	probably damaging	Het
Pkd1l3	T	C	8: 109,669,217	V2083A	probably damaging	Het
Plin3	C	A	17: 56,280,824	G297V	probably benign	Het
Prex1	C	T	2: 166,577,976	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,911,303	V47A	probably benign	Het
Ptch1	T	C	13: 63,527,257	T851A	probably benign	Het
Ptk7	T	A	17: 46,576,818	I563F	possibly damaging	Het
Ptprm	A	G	17: 66,809,471	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,518,764		probably benign	Het
Rapgef6	T	C	11: 54,552,858	V89A	probably benign	Het
Sh2b1	AGCTCAGCCACGGGGACC	AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC	7: 126,467,578		probably benign	Het
Sh2b1	ACCAGCTC	ACCAGCTCAGCCACGGGGGCCAGCTC	7: 126,467,593		probably benign	Het
Sh2b1	CTC	CTCCGCCACGGGGACCAGTTC	7: 126,467,598		probably benign	Het
Slain1	T	A	14: 103,695,312	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,335,472	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,682,052	F914S	possibly damaging	Het
Smarca5	A	C	8: 80,702,211	L1003V	probably damaging	Het
Spata18	A	T	5: 73,672,497	I332F		Het
Stard9	C	G	2: 120,704,083	P3607R	probably damaging	Het
Tbx19	A	G	1: 165,138,977	S443P	unknown	Het
Tktl2	C	G	8: 66,513,188	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,657,778	V17A	probably benign	Het
Tom1l2	T	C	11: 60,262,660	T164A	probably damaging	Het
Tor1aip1	T	A	1: 156,030,431	D205V	probably damaging	Het
Tpp2	T	A	1: 43,978,488	S751T	probably benign	Het
Trim11	G	T	11: 58,987,651	A251S	unknown	Het
Trim33	T	C	3: 103,331,758	V684A	probably benign	Het
Triobp	C	T	15: 78,993,178	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,982,676	N1225S	probably benign	Het
Uhrf1bp1	A	G	17: 27,893,440	D1201G	probably damaging	Het
Usp21	T	C	1: 171,284,930	Y300C	probably damaging	Het
Usp32	T	C	11: 85,022,734	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,354,845	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,712,713	T183A	probably benign	Het
Zc3h8	T	C	2: 128,931,303	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,338,544	D55E	probably benign	Het
Zfp408	A	T	2: 91,648,023	W26R	probably damaging	Het
Zfp937	G	T	2: 150,238,970	A307S	possibly 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
R2066:Nipal4	UTSW	11	46156795	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
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'- GAATGAGGCCTTTCTTCTTAAGGATG -3'
(R):5'- GTCCATGCAAATGATGTCCTTGG -3'

Sequencing Primer
(F):5'- CTTAAGGATGACACTGGTGCC -3'
(R):5'- TCCTTGGTGAGAAAACGGCTAAC -3'

Posted On

2022-07-18