Mutagenetix > Incidental Mutation

Incidental Mutation 'R1288:Nkg7'

150667

Institutional Source

Beutler Lab

Gene Symbol

Nkg7

Ensembl Gene

ENSMUSG00000004612

Gene Name

natural killer cell group 7 sequence

Synonyms

2500004F03Rik

MMRRC Submission

039354-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1288 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43086562-43087670 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 43087086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004732] [ENSMUST00000040227] [ENSMUST00000070518] [ENSMUST00000177375] [ENSMUST00000206741] [ENSMUST00000206839]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004732

SMART Domains

Protein: ENSMUSP00000004732
Gene: ENSMUSG00000093639

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	157	5.5e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000040227

SMART Domains

Protein: ENSMUSP00000037980
Gene: ENSMUSG00000038973

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	147	2.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070518
AA Change: T95A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000068946
Gene: ENSMUSG00000004612
AA Change: T95A

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	150	5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177375

SMART Domains

Protein: ENSMUSP00000135834
Gene: ENSMUSG00000093639

Domain	Start	End	E-Value	Type
low complexity region	26	46	N/A	INTRINSIC
low complexity region	116	131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206251

Predicted Effect

probably benign
Transcript: ENSMUST00000206741
AA Change: T95A

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably null
Transcript: ENSMUST00000206839

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	T	5: 129,206,071 (GRCm39)	D247V	probably damaging	Het
Ano5	A	T	7: 51,196,620 (GRCm39)	S184C	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Atxn3	C	T	12: 101,908,437 (GRCm39)		probably null	Het
BC005537	A	T	13: 24,988,883 (GRCm39)	E54V	probably damaging	Het
Ccdc150	A	T	1: 54,403,617 (GRCm39)	E881V	probably damaging	Het
Cep126	A	T	9: 8,112,182 (GRCm39)	N130K	probably benign	Het
Enoph1	A	G	5: 100,188,138 (GRCm39)	T21A	possibly damaging	Het
Fbxw28	A	G	9: 109,166,361 (GRCm39)	I165T	probably damaging	Het
Lrp12	A	T	15: 39,741,799 (GRCm39)	N305K	probably damaging	Het
Msl2	A	G	9: 100,979,308 (GRCm39)	T561A	probably benign	Het
Mup21	G	T	4: 62,068,934 (GRCm39)	A19E	probably benign	Het
Myh13	T	C	11: 67,244,544 (GRCm39)	I1027T	probably benign	Het
Nme8	A	G	13: 19,858,619 (GRCm39)	V73A	possibly damaging	Het
Or2g1	T	A	17: 38,106,584 (GRCm39)	L83Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,114 (GRCm39)	T151A	probably benign	Het
Or52a5	A	T	7: 103,427,249 (GRCm39)	L101Q	possibly damaging	Het
Or5w12	G	A	2: 87,501,916 (GRCm39)	A265V	probably benign	Het
Or6c69c	A	G	10: 129,911,154 (GRCm39)	N292D	probably damaging	Het
Rapgef3	C	A	15: 97,657,223 (GRCm39)	S267I	probably benign	Het
Trhde	T	A	10: 114,637,195 (GRCm39)	D4V	probably benign	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het
Zfp40	T	A	17: 23,401,136 (GRCm39)	I36L	probably benign	Het

Other mutations in Nkg7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02997:Nkg7	APN	7	43,087,291 (GRCm39)	missense	probably damaging	1.00
1mM(1):Nkg7	UTSW	7	43,086,825 (GRCm39)	missense	probably damaging	1.00
R1116:Nkg7	UTSW	7	43,086,878 (GRCm39)	missense	probably benign	0.09
R1467:Nkg7	UTSW	7	43,086,857 (GRCm39)	missense	probably damaging	1.00
R1467:Nkg7	UTSW	7	43,086,857 (GRCm39)	missense	probably damaging	1.00
R9500:Nkg7	UTSW	7	43,087,229 (GRCm39)	missense	probably damaging	1.00
X0065:Nkg7	UTSW	7	43,087,015 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTCCAGTGGGAAACAGACACTCAG -3'
(R):5'- CAAGGTTTCATACTCAGCCCGACG -3'

Sequencing Primer
(F):5'- CACTCAGAAACATCATCTTCCTTAG -3'
(R):5'- GTTCTACAGTGAGCACCCAG -3'

Posted On

2014-01-29