Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01724:Nkd1'

105211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nkd1

Ensembl Gene

ENSMUSG00000031661

Gene Name

naked cuticle 1

Synonyms

2810434J10Rik, 9030215G15Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.584) question?

Stock #

IGL01724

Quality Score

Status

Chromosome

Chromosomal Location

89247982-89321512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89248923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 23 (F23L)

Ref Sequence

ENSEMBL: ENSMUSP00000034086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034086]

AlphaFold

Q99MH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034086
AA Change: F23L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034086
Gene: ENSMUSG00000031661
AA Change: F23L

Domain	Start	End	E-Value	Type
SCOP:d2pvba_	121	164	1e-3	SMART
low complexity region	379	397	N/A	INTRINSIC
low complexity region	453	467	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]
PHENOTYPE: Homozygous null mice display reduced male fertility with oligozoospermia, small testis, and small seminiferous tubules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	C	T	7: 28,947,321 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,610,259 (GRCm39)	V635A	probably benign	Het
Adgre1	T	A	17: 57,751,064 (GRCm39)	Y579*	probably null	Het
Adgrg3	T	C	8: 95,766,053 (GRCm39)	F295L	probably benign	Het
Arhgap42	A	T	9: 8,998,254 (GRCm39)		probably benign	Het
Brd2	T	A	17: 34,335,976 (GRCm39)	Q79L	probably damaging	Het
Brd2	C	A	17: 34,335,975 (GRCm39)	Q79H	probably damaging	Het
Capn15	A	G	17: 26,181,037 (GRCm39)	S705P	probably damaging	Het
Cebpz	T	A	17: 79,243,342 (GRCm39)	D104V	probably benign	Het
Chl1	T	C	6: 103,626,534 (GRCm39)	I94T	probably damaging	Het
Csf2rb	C	T	15: 78,220,614 (GRCm39)	A52V	probably damaging	Het
Ddx27	T	C	2: 166,870,309 (GRCm39)	L459P	probably damaging	Het
Dhtkd1	T	C	2: 5,919,651 (GRCm39)	T577A	probably benign	Het
Dync2h1	G	A	9: 7,081,077 (GRCm39)	T2873I	probably benign	Het
Emg1	A	G	6: 124,688,984 (GRCm39)	F8S	possibly damaging	Het
Fermt3	A	G	19: 6,979,143 (GRCm39)	I553T	probably damaging	Het
Gaa	A	G	11: 119,165,947 (GRCm39)	D419G	possibly damaging	Het
Hdac10	T	C	15: 89,008,912 (GRCm39)		probably benign	Het
Hsf1	T	A	15: 76,381,037 (GRCm39)	V122E	possibly damaging	Het
Lig3	C	A	11: 82,681,448 (GRCm39)	T480K	possibly damaging	Het
Magi1	T	C	6: 93,769,381 (GRCm39)		probably null	Het
Mcm2	G	T	6: 88,863,044 (GRCm39)	H683N	probably damaging	Het
Ncapg2	G	T	12: 116,390,331 (GRCm39)	A427S	probably damaging	Het
Or9i2	G	A	19: 13,816,225 (GRCm39)	T104M	probably damaging	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Pdx1	A	T	5: 147,211,217 (GRCm39)	E146V	probably damaging	Het
Qrsl1	T	C	10: 43,750,604 (GRCm39)	T485A	probably benign	Het
Slc17a4	A	G	13: 24,089,516 (GRCm39)	Y134H	probably benign	Het
Slc24a4	A	T	12: 102,185,219 (GRCm39)	M110L	possibly damaging	Het
Tent5a	A	G	9: 85,207,103 (GRCm39)	C232R	probably damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Uhrf2	T	C	19: 30,052,652 (GRCm39)	V382A	probably benign	Het
Vac14	T	A	8: 111,345,523 (GRCm39)	M1K	probably null	Het
Virma	A	G	4: 11,528,672 (GRCm39)	E1303G	probably damaging	Het
Xirp2	T	C	2: 67,356,411 (GRCm39)	V3724A	probably benign	Het

Other mutations in Nkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Nkd1	APN	8	89,318,180 (GRCm39)	splice site	probably benign
IGL03297:Nkd1	APN	8	89,300,902 (GRCm39)	splice site	probably benign
PIT4508001:Nkd1	UTSW	8	89,249,028 (GRCm39)	missense	probably benign	0.04
R0350:Nkd1	UTSW	8	89,311,844 (GRCm39)	nonsense	probably null
R0611:Nkd1	UTSW	8	89,248,944 (GRCm39)	missense	probably damaging	1.00
R1080:Nkd1	UTSW	8	89,318,647 (GRCm39)	missense	probably benign	0.02
R1946:Nkd1	UTSW	8	89,318,745 (GRCm39)	missense	probably damaging	1.00
R2036:Nkd1	UTSW	8	89,318,305 (GRCm39)	missense	probably damaging	0.99
R2135:Nkd1	UTSW	8	89,318,278 (GRCm39)	missense	probably benign	0.06
R4623:Nkd1	UTSW	8	89,316,383 (GRCm39)	missense	probably benign	0.35
R5254:Nkd1	UTSW	8	89,315,822 (GRCm39)	missense	probably damaging	1.00
R6057:Nkd1	UTSW	8	89,316,442 (GRCm39)	critical splice donor site	probably null
R6168:Nkd1	UTSW	8	89,311,859 (GRCm39)	missense	probably damaging	1.00
R7424:Nkd1	UTSW	8	89,311,803 (GRCm39)	missense	probably benign	0.13
R9491:Nkd1	UTSW	8	89,300,875 (GRCm39)	missense	probably benign	0.33
R9784:Nkd1	UTSW	8	89,318,330 (GRCm39)	missense	probably damaging	1.00
X0024:Nkd1	UTSW	8	89,318,763 (GRCm39)	missense	probably damaging	1.00
Z1177:Nkd1	UTSW	8	89,318,679 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21