Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Nipal4'

307459

Institutional Source

Beutler Lab

Gene Symbol

Nipal4

Ensembl Gene

ENSMUSG00000020411

Gene Name

NIPA-like domain containing 4

Synonyms

9530066K23Rik

MMRRC Submission

040923-MU

Accession Numbers

Essential gene?

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

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46038982-46057186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46041473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 241 (V241M)

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 damaging
Transcript: ENSMUST00000020679
AA Change: V241M

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

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: V241M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144915

Meta Mutation Damage Score

0.6921

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,214,263 (GRCm39)	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,667,242 (GRCm39)	L435Q	probably damaging	Het
Bin1	T	C	18: 32,539,211 (GRCm39)	V48A	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Btn1a1	T	G	13: 23,643,434 (GRCm39)	R338S	probably benign	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Ccdc80	A	G	16: 44,916,455 (GRCm39)	T404A	probably benign	Het
Cd2ap	G	C	17: 43,119,690 (GRCm39)	H488D	probably damaging	Het
Cdon	A	G	9: 35,375,467 (GRCm39)	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786 (GRCm39)	N380D	probably benign	Het
Col6a5	G	A	9: 105,817,033 (GRCm39)	S426F	unknown	Het
Cr2	A	T	1: 194,848,122 (GRCm39)	H345Q	probably damaging	Het
Cttnbp2	T	A	6: 18,427,452 (GRCm39)	K743M	probably benign	Het
Depdc1b	T	C	13: 108,505,370 (GRCm39)	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825 (GRCm39)	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079 (GRCm39)	R98L	probably benign	Het
Eml6	C	T	11: 29,753,167 (GRCm39)	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,193,349 (GRCm39)	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,845,111 (GRCm39)	N10S	probably benign	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gabrr3	A	G	16: 59,253,864 (GRCm39)	N194D	probably damaging	Het
Hey1	A	G	3: 8,729,638 (GRCm39)	L273P	probably damaging	Het
Irf6	A	G	1: 192,850,857 (GRCm39)	K365E	probably benign	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Lrp1	G	A	10: 127,389,265 (GRCm39)	A3217V	probably damaging	Het
Mei4	C	T	9: 81,809,336 (GRCm39)	R140C	probably benign	Het
Mir100hg	T	C	9: 41,501,570 (GRCm39)	L143P	probably damaging	Het
Mpo	A	T	11: 87,688,175 (GRCm39)	K278M	probably benign	Het
Mprip	T	C	11: 59,622,328 (GRCm39)		probably benign	Het
Mug2	G	C	6: 122,040,522 (GRCm39)	G691R	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nlrp2	A	T	7: 5,330,551 (GRCm39)	L615*	probably null	Het
Pcdh1	A	G	18: 38,332,511 (GRCm39)	V164A	probably benign	Het
Phc2	T	C	4: 128,641,037 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,620,133 (GRCm39)	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,844,825 (GRCm39)	G29*	probably null	Het
Slc25a54	A	T	3: 109,019,479 (GRCm39)	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,400,992 (GRCm39)	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,900,764 (GRCm39)		probably null	Het
Strn	A	T	17: 78,965,369 (GRCm39)	I641N	probably damaging	Het
Tapbp	A	G	17: 34,139,457 (GRCm39)	E151G	possibly damaging	Het
Ticrr	T	C	7: 79,343,445 (GRCm39)		probably benign	Het
Tnfrsf21	G	A	17: 43,348,901 (GRCm39)	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Utrn	T	A	10: 12,587,329 (GRCm39)		probably null	Het
Vmn1r175	A	G	7: 23,508,393 (GRCm39)	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,490,682 (GRCm39)	Y167H	probably damaging	Het
Washc1	T	C	17: 66,425,123 (GRCm39)	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,842,656 (GRCm39)		probably null	Het
Xrcc4	A	G	13: 90,219,752 (GRCm39)	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799 (GRCm39)	V770A	probably benign	Het
Zfp410	A	G	12: 84,385,527 (GRCm39)	N90S	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
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'- TGGTATACCACTCCTTGAAGAGGAC -3'
(R):5'- CCCTTGAGTCCTTTGCTGAATAAC -3'

Sequencing Primer
(F):5'- ATGGAGGAGGCCACCAC -3'
(R):5'- GAGTCCTTTGCTGAATAACTTTTACC -3'

Posted On

2015-04-17