Mutagenetix > Incidental Mutation

Incidental Mutation 'R0414:Nipal4'

40177

Institutional Source

Beutler Lab

Gene Symbol

Nipal4

Ensembl Gene

ENSMUSG00000020411

Gene Name

NIPA-like domain containing 4

Synonyms

9530066K23Rik

MMRRC Submission

038616-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R0414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46038982-46057186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46052735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 77 (I77F)

Ref Sequence

ENSEMBL: ENSMUSP00000020679 (fasta)

Gene Model

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

AlphaFold

Q8BZF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000020679
AA Change: I77F

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

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: I77F

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

Meta Mutation Damage Score

0.8830

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	A	T	5: 103,797,356 (GRCm39)	V51E	probably benign	Het
Abo	T	C	2: 26,733,428 (GRCm39)	Y259C	probably damaging	Het
Adamts5	A	G	16: 85,674,794 (GRCm39)	S457P	probably damaging	Het
Alk	G	T	17: 72,206,281 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,439,230 (GRCm39)	I1188T	probably benign	Het
Ambra1	T	C	2: 91,706,084 (GRCm39)	S730P	possibly damaging	Het
Arhgef2	T	C	3: 88,539,575 (GRCm39)		probably benign	Het
Atpsckmt	T	A	15: 31,617,148 (GRCm39)	Y126*	probably null	Het
B3gnt7	T	C	1: 86,233,351 (GRCm39)	I82T	probably damaging	Het
B4galnt3	T	C	6: 120,193,526 (GRCm39)	D400G	probably benign	Het
Bag4	A	G	8: 26,258,025 (GRCm39)	V434A	possibly damaging	Het
Cfap251	A	G	5: 123,425,476 (GRCm39)		probably null	Het
Cfc1	A	G	1: 34,576,409 (GRCm39)	D130G	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clec2m	T	C	6: 129,303,813 (GRCm39)		probably benign	Het
Crybg2	GAGAAGAAG	GAGAAG	4: 133,799,947 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,390,064 (GRCm39)	D727G	probably benign	Het
Dock10	C	A	1: 80,513,650 (GRCm39)	V1129F	possibly damaging	Het
Dsc1	A	T	18: 20,221,411 (GRCm39)	I688N	possibly damaging	Het
Dyrk1a	C	G	16: 94,464,701 (GRCm39)	T103R	probably damaging	Het
Ebf1	C	T	11: 44,815,297 (GRCm39)	R304*	probably null	Het
Eif2s2	A	G	2: 154,726,381 (GRCm39)		probably benign	Het
Endov	T	G	11: 119,390,397 (GRCm39)	Y8*	probably null	Het
Eps15	T	A	4: 109,223,677 (GRCm39)	D485E	probably damaging	Het
Fam118a	C	A	15: 84,929,890 (GRCm39)	S39R	probably damaging	Het
Fbxo22	T	A	9: 55,130,910 (GRCm39)	M393K	possibly damaging	Het
Firrm	T	C	1: 163,795,890 (GRCm39)	I434V	probably benign	Het
Gab1	A	G	8: 81,526,918 (GRCm39)	I60T	probably damaging	Het
Gapvd1	A	G	2: 34,583,439 (GRCm39)	L1059P	probably benign	Het
Gbp5	A	G	3: 142,213,674 (GRCm39)		probably null	Het
Glb1l2	T	A	9: 26,676,400 (GRCm39)	K487*	probably null	Het
H1f1	A	G	13: 23,948,141 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,591,573 (GRCm39)	I1875M	possibly damaging	Het
Jkamp	T	C	12: 72,140,919 (GRCm39)		probably null	Het
Kprp	C	T	3: 92,733,020 (GRCm39)	C10Y	probably damaging	Het
Lrig2	A	G	3: 104,401,372 (GRCm39)		probably null	Het
Lrrn3	T	A	12: 41,503,939 (GRCm39)	N126I	probably damaging	Het
Mug1	T	C	6: 121,833,513 (GRCm39)	F325L	probably benign	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Nagk	C	T	6: 83,774,249 (GRCm39)	R87*	probably null	Het
Or4c112	A	G	2: 88,853,490 (GRCm39)	Y286H	probably damaging	Het
Osbp2	T	C	11: 3,769,932 (GRCm39)	H250R	probably damaging	Het
Pcx	T	C	19: 4,657,670 (GRCm39)	V378A	possibly damaging	Het
Pfkp	T	A	13: 6,643,246 (GRCm39)	H524L	probably benign	Het
Picalm	A	T	7: 89,838,406 (GRCm39)	N370I	possibly damaging	Het
Plcl2	A	C	17: 50,914,983 (GRCm39)	D664A	possibly damaging	Het
Ptpn5	G	A	7: 46,732,884 (GRCm39)	P320S	probably benign	Het
Scn3a	T	A	2: 65,356,326 (GRCm39)		probably benign	Het
Sfswap	A	G	5: 129,581,115 (GRCm39)	D96G	possibly damaging	Het
Slfn1	A	G	11: 83,012,096 (GRCm39)	I71V	probably benign	Het
Spata1	A	G	3: 146,181,943 (GRCm39)		probably null	Het
Stx18	T	C	5: 38,262,349 (GRCm39)		probably benign	Het
Suox	T	A	10: 128,507,326 (GRCm39)	H234L	probably benign	Het
Tbc1d17	T	C	7: 44,495,483 (GRCm39)	S114G	probably benign	Het
Tfeb	T	A	17: 48,099,224 (GRCm39)		probably null	Het
Tnks	A	C	8: 35,320,463 (GRCm39)	V736G	probably damaging	Het
Wdhd1	T	C	14: 47,514,045 (GRCm39)	T4A	probably benign	Het

Other mutations in Nipal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02531:Nipal4	APN	11	46,042,152 (GRCm39)	missense	probably damaging	1.00
IGL03203:Nipal4	APN	11	46,041,123 (GRCm39)	missense	probably damaging	1.00
H8786:Nipal4	UTSW	11	46,041,304 (GRCm39)	missense	probably damaging	1.00
R0239:Nipal4	UTSW	11	46,041,268 (GRCm39)	missense	possibly damaging	0.80
R0239:Nipal4	UTSW	11	46,041,268 (GRCm39)	missense	possibly damaging	0.80
R0331:Nipal4	UTSW	11	46,041,040 (GRCm39)	missense	probably damaging	1.00
R0613:Nipal4	UTSW	11	46,041,211 (GRCm39)	missense	probably benign	0.31
R0940:Nipal4	UTSW	11	46,041,139 (GRCm39)	missense	possibly damaging	0.48
R1797:Nipal4	UTSW	11	46,042,160 (GRCm39)	missense	probably benign	0.06
R1889:Nipal4	UTSW	11	46,041,560 (GRCm39)	missense	probably damaging	0.99
R1899:Nipal4	UTSW	11	46,041,058 (GRCm39)	missense	probably damaging	1.00
R1974:Nipal4	UTSW	11	46,042,210 (GRCm39)	missense	probably damaging	1.00
R2066:Nipal4	UTSW	11	46,047,622 (GRCm39)	missense	probably damaging	1.00
R3705:Nipal4	UTSW	11	46,052,678 (GRCm39)	splice site	probably benign
R3941:Nipal4	UTSW	11	46,041,473 (GRCm39)	missense	probably damaging	1.00
R4597:Nipal4	UTSW	11	46,042,156 (GRCm39)	missense	probably damaging	1.00
R4965:Nipal4	UTSW	11	46,052,837 (GRCm39)	missense	possibly damaging	0.68
R5888:Nipal4	UTSW	11	46,042,166 (GRCm39)	missense	probably damaging	0.98
R6533:Nipal4	UTSW	11	46,041,234 (GRCm39)	nonsense	probably null
R7444:Nipal4	UTSW	11	46,057,062 (GRCm39)	missense	probably benign	0.27
R8099:Nipal4	UTSW	11	46,052,848 (GRCm39)	missense	probably benign	0.05
R8203:Nipal4	UTSW	11	46,041,147 (GRCm39)	missense	probably damaging	1.00
R8825:Nipal4	UTSW	11	46,052,873 (GRCm39)	missense	probably benign	0.01
R8826:Nipal4	UTSW	11	46,045,470 (GRCm39)	missense	possibly damaging	0.63
R8881:Nipal4	UTSW	11	46,042,177 (GRCm39)	missense	probably benign	0.00
R9514:Nipal4	UTSW	11	46,052,922 (GRCm39)	critical splice acceptor site	probably null
R9768:Nipal4	UTSW	11	46,041,473 (GRCm39)	missense	probably damaging	1.00
X0018:Nipal4	UTSW	11	46,052,873 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGATTCTCAGCAGGGTTGACAATG -3'
(R):5'- AGTTCTACGCCATGCCCACATC -3'

Sequencing Primer
(F):5'- TTGACAATGAGCCCCCAGTG -3'
(R):5'- AGGCTCCATAGTCAGCCTC -3'

Posted On

2013-05-23