Mutagenetix > Incidental Mutation

Incidental Mutation 'R8203:Nipal4'

635774

Institutional Source

Beutler Lab

Gene Symbol

Nipal4

Ensembl Gene

ENSMUSG00000020411

Gene Name

NIPA-like domain containing 4

Synonyms

9530066K23Rik

MMRRC Submission

067626-MU

Accession Numbers

Essential gene?

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

Stock #

R8203 (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 46041147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 349 (D349E)

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: D349E

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

SMART Domains

Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: D349E

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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
Abcd2	A	G	15: 91,075,369 (GRCm39)	I148T	probably benign	Het
Agbl3	A	G	6: 34,776,414 (GRCm39)	T307A	probably damaging	Het
Ahsa1	A	G	12: 87,315,042 (GRCm39)	D65G	probably damaging	Het
Aicda	T	C	6: 122,538,076 (GRCm39)	V78A	possibly damaging	Het
Arhgef5	A	G	6: 43,257,579 (GRCm39)	D1282G	probably damaging	Het
Atf7ip	T	C	6: 136,583,781 (GRCm39)	S1271P	probably damaging	Het
Atrn	G	A	2: 130,802,469 (GRCm39)	D537N	probably benign	Het
Brd10	A	T	19: 29,693,443 (GRCm39)	S2017T	probably benign	Het
Cep170	T	A	1: 176,596,877 (GRCm39)	Q493H	probably benign	Het
Cltc	A	T	11: 86,594,986 (GRCm39)	Y1371N	possibly damaging	Het
Col12a1	T	C	9: 79,588,831 (GRCm39)	T1095A	possibly damaging	Het
Cxcr5	T	C	9: 44,425,451 (GRCm39)	M69V	probably benign	Het
Cyp2c69	A	T	19: 39,869,584 (GRCm39)	V145E	probably damaging	Het
Ddx3y	T	C	Y: 1,269,827 (GRCm39)	E185G	probably benign	Het
Dgke	G	A	11: 88,941,193 (GRCm39)	A330V	probably benign	Het
Dyrk4	A	G	6: 126,871,797 (GRCm39)	L157P	probably damaging	Het
Ermard	T	A	17: 15,240,548 (GRCm39)	S337R	possibly damaging	Het
Etl4	A	T	2: 20,789,916 (GRCm39)	M805L	possibly damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmn1	T	A	2: 113,355,620 (GRCm39)	M785K	unknown	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabrg3	G	A	7: 56,423,008 (GRCm39)	T230I	possibly damaging	Het
Gle1	A	G	2: 29,825,522 (GRCm39)	D4G	probably benign	Het
Gm5468	T	C	15: 25,414,527 (GRCm39)	S26P	noncoding transcript	Het
Igsf10	A	T	3: 59,236,254 (GRCm39)	L1309Q	probably benign	Het
Lipf	A	G	19: 33,944,283 (GRCm39)	K164R	probably benign	Het
Luc7l	C	A	17: 26,485,333 (GRCm39)	T111K	possibly damaging	Het
Masp2	A	G	4: 148,696,599 (GRCm39)	T399A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip1	T	C	13: 100,562,328 (GRCm39)	I946V	probably benign	Het
Neb	T	A	2: 52,039,259 (GRCm39)	K6927*	probably null	Het
Or12j2	A	T	7: 139,915,939 (GRCm39)	T55S	probably benign	Het
Or5al7	T	A	2: 85,992,844 (GRCm39)	I150F	probably benign	Het
Or7g22	A	G	9: 19,049,170 (GRCm39)	N294D	probably damaging	Het
Pdik1l	A	T	4: 134,006,676 (GRCm39)	H154Q	unknown	Het
Polr2m	T	G	9: 71,386,768 (GRCm39)	M338L	probably benign	Het
Rab3gap2	T	C	1: 184,999,376 (GRCm39)	L995P	probably damaging	Het
Rnf17	T	A	14: 56,705,179 (GRCm39)	H694Q	probably benign	Het
Sar1b	A	G	11: 51,670,524 (GRCm39)	K23E	probably benign	Het
Setd7	A	T	3: 51,437,519 (GRCm39)	Y245*	probably null	Het
Shpk	A	C	11: 73,104,904 (GRCm39)	D171A	probably benign	Het
Slc2a7	G	T	4: 150,243,015 (GRCm39)	E279*	probably null	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Srcin1	G	T	11: 97,457,539 (GRCm39)	P62Q	probably damaging	Het
Tbc1d2	A	G	4: 46,606,476 (GRCm39)	F823S	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd9	T	A	12: 111,992,064 (GRCm39)	V613E	probably damaging	Het
Tsc1	A	G	2: 28,563,007 (GRCm39)		probably null	Het
Ulk4	A	T	9: 120,997,274 (GRCm39)	M766K	probably damaging	Het
Wdr36	G	T	18: 32,985,136 (GRCm39)	G481*	probably null	Het
Yme1l1	G	A	2: 23,054,538 (GRCm39)	R119H	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	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
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'- ACTCATGCATTCCAGGCTTTAAG -3'
(R):5'- AGGTCAACTTCCTCAACAGGG -3'

Sequencing Primer
(F):5'- GCATTCCAGGCTTTAAGAATCGGTC -3'
(R):5'- GGGCACTGGATATTTTCAACACC -3'

Posted On

2020-07-13