Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4508001:Nkd1'

556227

Institutional Source

Beutler Lab

Gene Symbol

Nkd1

Ensembl Gene

ENSMUSG00000031661

Gene Name

naked cuticle 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

PIT4508001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88521354-88594884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88522400 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 58 (T58A)

Ref Sequence

ENSEMBL: ENSMUSP00000034086 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034086
AA Change: T58A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034086
Gene: ENSMUSG00000031661
AA Change: T58A

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

1x: 93.4%
3x: 90.7%
10x: 84.6%
20x: 71.6%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,357,378	T1228A	probably damaging	Het
Actg2	A	T	6: 83,513,007	I370N	possibly damaging	Het
Ankrd36	A	G	11: 5,607,137	T330A	possibly damaging	Het
Atrip	C	T	9: 109,073,989	A6T	possibly damaging	Het
Bms1	G	A	6: 118,383,806	R1234C	probably benign	Het
Cacnb2	A	T	2: 14,984,419	T487S	probably benign	Het
Col4a3bp	T	C	13: 96,630,776	F478S	probably damaging	Het
Esco2	A	T	14: 65,831,465	V132E	probably damaging	Het
Gjb5	A	T	4: 127,356,240	L37Q	probably damaging	Het
Gm8020	T	A	14: 42,502,277	Y24F		Het
H2-Q6	T	C	17: 35,425,820	L195P	probably damaging	Het
Hc	T	C	2: 34,984,804	T1602A	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hist1h2bg	CTCGACCATCACGTC	CTC	13: 23,571,693		probably benign	Het
Itga3	T	C	11: 95,055,893	H730R	probably benign	Het
Kif1a	A	T	1: 93,046,729	L866Q	probably damaging	Het
Krt81	A	T	15: 101,462,725	L127Q	probably damaging	Het
Mdn1	T	C	4: 32,719,223	I2262T	probably damaging	Het
Mxd3	A	T	13: 55,325,894	D170E	probably benign	Het
Myh2	A	G	11: 67,185,505	M811V	probably benign	Het
Naa16	A	T	14: 79,369,087	D335E	probably benign	Het
Ogfrl1	T	A	1: 23,370,270	R292*	probably null	Het
Olfr1136	G	A	2: 87,693,715	H56Y	probably damaging	Het
Olfr589	T	A	7: 103,155,313	M145L	probably benign	Het
Pom121l12	A	G	11: 14,599,689	R132G	possibly damaging	Het
Prss46	A	G	9: 110,851,416	K210E	probably damaging	Het
Scn8a	T	C	15: 101,029,692	Y1351H	probably damaging	Het
Shisa9	G	A	16: 12,267,480	V318I	probably benign	Het
Slc41a2	T	G	10: 83,254,880	H480P	probably damaging	Het
Slc45a1	C	A	4: 150,638,435	A331S	probably benign	Het
Smg1	A	T	7: 118,185,541	F885I	unknown	Het
Speer4f1	T	C	5: 17,480,414	S236P	unknown	Het
Zfp326	A	T	5: 105,914,690	Q475L	probably benign	Het
Zzef1	T	G	11: 72,895,176	V2058G	probably benign	Het

Other mutations in Nkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Nkd1	APN	8	88591552	splice site	probably benign
IGL01724:Nkd1	APN	8	88522295	missense	probably damaging	0.98
IGL03297:Nkd1	APN	8	88574274	splice site	probably benign
R0350:Nkd1	UTSW	8	88585216	nonsense	probably null
R0611:Nkd1	UTSW	8	88522316	missense	probably damaging	1.00
R1080:Nkd1	UTSW	8	88592019	missense	probably benign	0.02
R1946:Nkd1	UTSW	8	88592117	missense	probably damaging	1.00
R2036:Nkd1	UTSW	8	88591677	missense	probably damaging	0.99
R2135:Nkd1	UTSW	8	88591650	missense	probably benign	0.06
R4623:Nkd1	UTSW	8	88589755	missense	probably benign	0.35
R5254:Nkd1	UTSW	8	88589194	missense	probably damaging	1.00
R6057:Nkd1	UTSW	8	88589814	critical splice donor site	probably null
R6168:Nkd1	UTSW	8	88585231	missense	probably damaging	1.00
R7424:Nkd1	UTSW	8	88585175	missense	probably benign	0.13
X0024:Nkd1	UTSW	8	88592135	missense	probably damaging	1.00
Z1177:Nkd1	UTSW	8	88592051	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCTTTACTCTCCGGGCTG -3'
(R):5'- CAAGGGTCCTCCAAAGCATAG -3'

Sequencing Primer
(F):5'- GGCTGTGCCGCCTTGTC -3'
(R):5'- GCATAGGGCACAAGTAGGG -3'

Posted On

2019-06-07