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

9530066K23Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9514 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46038982-46057186 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 46052922 bp (GRCm39)

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
1810065E05Rik	T	C	11: 58,312,533 (GRCm39)	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Acsl6	A	G	11: 54,225,880 (GRCm39)	N307D	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Cacna2d4	T	C	6: 119,213,611 (GRCm39)	L10S	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Cebpz	A	T	17: 79,239,684 (GRCm39)	M579K	probably benign	Het
Cenpk	T	G	13: 104,370,682 (GRCm39)	C103G	probably benign	Het
Cep97	T	A	16: 55,726,093 (GRCm39)	Q670L	probably benign	Het
Cfap65	C	T	1: 74,945,468 (GRCm39)		probably null	Het
Cir1	A	G	2: 73,142,781 (GRCm39)	S18P	probably damaging	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Creld1	T	C	6: 113,469,765 (GRCm39)	F389S	probably damaging	Het
Dimt1	T	C	13: 107,093,636 (GRCm39)	I276T	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dsp	T	A	13: 38,371,781 (GRCm39)	C911S	probably benign	Het
Egr3	A	G	14: 70,314,978 (GRCm39)	I29V	probably benign	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fam83a	G	A	15: 57,849,765 (GRCm39)	G103D	possibly damaging	Het
Fat2	T	A	11: 55,175,808 (GRCm39)	Q1635L	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Fryl	T	C	5: 73,262,115 (GRCm39)	K551E	probably damaging	Het
Galr2	A	G	11: 116,174,452 (GRCm39)	T361A	probably benign	Het
Gart	A	T	16: 91,427,596 (GRCm39)	S467R	probably benign	Het
Ggps1	T	C	13: 14,229,742 (GRCm39)	K45R	probably benign	Het
Ghsr	G	C	3: 27,426,630 (GRCm39)	V229L	possibly damaging	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hectd2	A	T	19: 36,582,689 (GRCm39)	H473L	possibly damaging	Het
Hic2	T	C	16: 17,076,293 (GRCm39)	V374A	possibly damaging	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt34	A	T	11: 99,929,226 (GRCm39)	I328N	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Mier2	T	C	10: 79,377,496 (GRCm39)	S486G	probably benign	Het
Mllt10	A	G	2: 18,164,322 (GRCm39)	D284G	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,248,133 (GRCm39)	S1724P	probably benign	Het
Nlrc4	G	C	17: 74,753,736 (GRCm39)	L216V	probably benign	Het
Ogfr	A	G	2: 180,235,417 (GRCm39)	M164V	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4b12	G	A	2: 90,096,709 (GRCm39)	Q22*	probably null	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pkd1l3	T	C	8: 110,395,849 (GRCm39)	V2083A	probably damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Prex1	C	T	2: 166,419,896 (GRCm39)	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,818,619 (GRCm39)	V47A	probably benign	Het
Ptch1	T	C	13: 63,675,071 (GRCm39)	T851A	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Ptprm	A	G	17: 67,116,466 (GRCm39)	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,507,203 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,443,684 (GRCm39)	V89A	probably benign	Het
Sh2b1	CTC	CTCCGCCACGGGGACCAGTTC	7: 126,066,770 (GRCm39)		probably benign	Het
Sh2b1	AGCTCAGCCACGGGGACC	AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	ACCAGCTC	ACCAGCTCAGCCACGGGGGCCAGCTC	7: 126,066,765 (GRCm39)		probably benign	Het
Slain1	T	A	14: 103,932,748 (GRCm39)	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,400,532 (GRCm39)	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,659,452 (GRCm39)	F914S	possibly damaging	Het
Smarca5	A	C	8: 81,428,840 (GRCm39)	L1003V	probably damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Spata31d1e	A	G	13: 59,890,806 (GRCm39)	V338A	probably damaging	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tktl2	C	G	8: 66,965,840 (GRCm39)	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tom1l2	T	C	11: 60,153,486 (GRCm39)	T164A	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Trim11	G	T	11: 58,878,477 (GRCm39)	A251S	unknown	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,960,040 (GRCm39)	N1225S	probably benign	Het
Usp21	T	C	1: 171,112,503 (GRCm39)	Y300C	probably damaging	Het
Usp32	T	C	11: 84,913,560 (GRCm39)	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,539,015 (GRCm39)	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Zc3h8	T	C	2: 128,773,223 (GRCm39)	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,232,337 (GRCm39)	D55E	probably benign	Het
Zfp408	A	T	2: 91,478,368 (GRCm39)	W26R	probably damaging	Het
Zfp937	G	T	2: 150,080,890 (GRCm39)	A307S	possibly 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
R8881:Nipal4	UTSW	11	46,042,177 (GRCm39)	missense	probably benign	0.00
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'- GAATGAGGCCTTTCTTCTTAAGGATG -3'
(R):5'- GTCCATGCAAATGATGTCCTTGG -3'

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

Posted On

2022-07-18