Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Nipal4'

676932

Institutional Source

Beutler Lab

Gene Symbol

Nipal4

Ensembl Gene

ENSMUSG00000020411

Gene Name

NIPA-like domain containing 4

Synonyms

9530066K23Rik

MMRRC Submission

068749-MU

Accession Numbers

Essential gene?

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

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46038982-46057186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46042177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 168 (M168K)

Ref Sequence

ENSEMBL: ENSMUSP00000020679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011400] [ENSMUST00000020679]

AlphaFold

Q8BZF2

Predicted Effect

probably benign
Transcript: ENSMUST00000011400

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Pep_M12B_propep	32	163	9.4e-27	PFAM
Pfam:Reprolysin_5	209	388	1.9e-25	PFAM
Pfam:Reprolysin_4	209	399	1.5e-15	PFAM
Pfam:Reprolysin	211	409	1.3e-68	PFAM
Pfam:Reprolysin_2	231	399	6.1e-19	PFAM
Pfam:Reprolysin_3	235	357	1.2e-19	PFAM
DISIN	426	501	9.7e-41	SMART
ACR	502	650	7.46e-62	SMART
transmembrane domain	704	726	N/A	INTRINSIC
low complexity region	788	797	N/A	INTRINSIC
low complexity region	832	846	N/A	INTRINSIC
low complexity region	886	905	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000020679
AA Change: M168K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: M168K

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: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,074,794 (GRCm39)	C612Y	probably benign	Het
Adam21	T	C	12: 81,606,650 (GRCm39)	T371A	probably benign	Het
Akap9	T	C	5: 4,011,279 (GRCm39)	S661P		Het
Anxa11	C	T	14: 25,874,687 (GRCm39)	R233C	probably damaging	Het
Capza3	A	C	6: 139,987,521 (GRCm39)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,718,273 (GRCm39)	N294K	probably damaging	Het
Cdh1	T	C	8: 107,392,904 (GRCm39)	V796A	probably benign	Het
Cfap251	C	T	5: 123,462,438 (GRCm39)	P1249L	probably damaging	Het
Cped1	A	T	6: 22,119,578 (GRCm39)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,185,902 (GRCm39)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,474,343 (GRCm39)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,537,922 (GRCm39)	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,077,647 (GRCm39)	N1282S	probably benign	Het
Dnah11	C	T	12: 118,090,550 (GRCm39)	V1104M	probably benign	Het
Dot1l	A	G	10: 80,621,429 (GRCm39)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,108,299 (GRCm39)	T28K		Het
Dusp5	T	A	19: 53,529,745 (GRCm39)	S383T	probably benign	Het
Eef2k	C	T	7: 120,472,548 (GRCm39)	A87V	probably damaging	Het
Epha1	T	C	6: 42,337,961 (GRCm39)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,382,997 (GRCm39)		probably null	Het
Fam151b	T	A	13: 92,604,630 (GRCm39)	M120L	probably benign	Het
Fam237b	A	C	5: 5,625,379 (GRCm39)	D25A	possibly damaging	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,272,735 (GRCm39)	H886N	probably benign	Het
Galnt17	T	C	5: 130,906,635 (GRCm39)	H511R	probably benign	Het
Grpel1	C	A	5: 36,626,816 (GRCm39)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,530,819 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,723 (GRCm39)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,231,498 (GRCm39)	T309S	probably benign	Het
Itgal	G	A	7: 126,929,541 (GRCm39)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,257,654 (GRCm39)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,669,296 (GRCm39)	R151L	probably benign	Het
Lgi3	T	A	14: 70,770,282 (GRCm39)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,743,866 (GRCm39)	H731R	probably benign	Het
Lrp5	A	T	19: 3,641,015 (GRCm39)	S1482T	probably damaging	Het
Meis2	T	C	2: 115,889,116 (GRCm39)	D212G	probably benign	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 144,861,999 (GRCm39)	H187R	probably benign	Het
Mvd	A	G	8: 123,164,564 (GRCm39)		probably null	Het
Neb	T	C	2: 52,096,999 (GRCm39)	I4938M	possibly damaging	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,554,920 (GRCm39)	I1133T	probably benign	Het
Numa1	T	C	7: 101,650,684 (GRCm39)	Y1472H	probably benign	Het
Or10ak8	A	G	4: 118,774,571 (GRCm39)	V31A	probably benign	Het
Or12j3	A	G	7: 139,952,698 (GRCm39)	V275A	probably benign	Het
Or2y10	G	A	11: 49,455,209 (GRCm39)	V154M	probably benign	Het
Or3a1d	T	C	11: 74,237,471 (GRCm39)	D313G	probably benign	Het
Or52h7	A	G	7: 104,213,619 (GRCm39)	M64V	possibly damaging	Het
Pate7	T	A	9: 35,689,384 (GRCm39)		probably benign	Het
Pcdha6	G	T	18: 37,101,484 (GRCm39)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,581,489 (GRCm39)	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,105,194 (GRCm39)	R322H	probably damaging	Het
Sgtb	T	C	13: 104,258,046 (GRCm39)		probably null	Het
Skint6	T	C	4: 112,672,716 (GRCm39)	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,527,457 (GRCm39)	E646G	probably damaging	Het
Speg	G	T	1: 75,377,795 (GRCm39)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,429,912 (GRCm39)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,700,098 (GRCm39)	V984A	probably benign	Het
Syne1	A	T	10: 5,223,639 (GRCm39)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,730,101 (GRCm39)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,587 (GRCm39)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,327,987 (GRCm39)	*582G	probably null	Het
Trip13	C	A	13: 74,077,795 (GRCm39)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,661,883 (GRCm39)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,423,737 (GRCm39)	I2T	possibly damaging	Het
V1rd19	T	A	7: 23,703,081 (GRCm39)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,486,609 (GRCm39)	G762V	probably benign	Het
Zfp874b	T	C	13: 67,622,141 (GRCm39)	K386E	probably damaging	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
R0414:Nipal4	UTSW	11	46,052,735 (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
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'- AGCAGGTACCATCCAGCTTC -3'
(R):5'- TCTGGACTGTTGTTCTCCATAAG -3'

Sequencing Primer
(F):5'- CATCTTTTCCTCAAGGGGGCAG -3'
(R):5'- TAAGTATTCACTCAACCCCCAGTGTG -3'

Posted On

2021-07-15