Mutagenetix > Incidental Mutation

Incidental Mutation 'R4333:Khnyn'

323672

Institutional Source

Beutler Lab

Gene Symbol

Khnyn

Ensembl Gene

ENSMUSG00000047153

Gene Name

KH and NYN domain containing

Synonyms

9130227C08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4333 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56122404-56136232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56131499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 536 (D536G)

Ref Sequence

ENSEMBL: ENSMUSP00000153796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000111325] [ENSMUST00000226273] [ENSMUST00000227032] [ENSMUST00000228462] [ENSMUST00000227211]

AlphaFold

Q80U38

Predicted Effect

probably damaging
Transcript: ENSMUST00000022831
AA Change: D536G

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

SMART Domains

Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: D536G

Domain	Start	End	E-Value	Type
low complexity region	350	365	N/A	INTRINSIC
low complexity region	367	380	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	429	582	1.9e-66	PFAM
low complexity region	623	637	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111325

SMART Domains

Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223

Domain	Start	End	E-Value	Type
Pfam:Epimerase	3	216	2.7e-7	PFAM
Pfam:DUF1731	245	291	5.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226746

Predicted Effect

probably benign
Transcript: ENSMUST00000227032

Predicted Effect

probably damaging
Transcript: ENSMUST00000228462
AA Change: D536G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227499

Predicted Effect

probably benign
Transcript: ENSMUST00000227211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227712

Predicted Effect

probably benign
Transcript: ENSMUST00000227387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227462

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein with a C-terminal RNA modifying domain that belongs to a family of ribonucleases typified by eukaryotic Nedd4-binding protein1 and the bacterial YacP-like nucleases (NYN). The NYN domain shares a common protein fold with two other groups of nucleases, the PilT N-terminal nuclease and FLAP nuclease superfamilies. In addition to the NYN domain, the protein encoded by this gene also contains an N-terminal K homology RNA-binding domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	T	10: 10,318,246 (GRCm39)	V193I	possibly damaging	Het
Cadps	C	T	14: 12,467,031 (GRCm38)	R967H	probably damaging	Het
Cwh43	A	G	5: 73,598,722 (GRCm39)	D647G	probably damaging	Het
Dab2ip	T	A	2: 35,551,632 (GRCm39)	*164R	probably null	Het
Ddx18	A	T	1: 121,492,331 (GRCm39)	D125E	probably benign	Het
Fbxw7	T	C	3: 84,879,802 (GRCm39)	C375R	probably damaging	Het
Iqca1l	A	G	5: 24,749,368 (GRCm39)	L710P	probably damaging	Het
Lamp3	T	C	16: 19,492,186 (GRCm39)	I353V	probably benign	Het
Med13	A	G	11: 86,179,009 (GRCm39)	F1429S	probably benign	Het
Mybl1	T	C	1: 9,742,523 (GRCm39)	K621E	probably damaging	Het
Myo19	G	A	11: 84,799,114 (GRCm39)	A816T	probably benign	Het
Or10d1c	A	G	9: 38,893,884 (GRCm39)	I152T	possibly damaging	Het
Or51h7	A	T	7: 102,591,176 (GRCm39)	L203I	possibly damaging	Het
Rnf2	T	C	1: 151,348,827 (GRCm39)	T98A	possibly damaging	Het
Samm50	A	G	15: 84,087,031 (GRCm39)	K280R	probably benign	Het
Satb2	T	C	1: 56,884,745 (GRCm39)	N511S	probably damaging	Het
Tbc1d19	A	G	5: 54,029,619 (GRCm39)	T327A	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,199 (GRCm39)	N786S	probably damaging	Het

Other mutations in Khnyn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Khnyn	APN	14	56,124,439 (GRCm39)	missense	probably benign	0.02
IGL01924:Khnyn	APN	14	56,132,426 (GRCm39)	missense	probably benign	0.03
IGL01990:Khnyn	APN	14	56,125,045 (GRCm39)	missense	possibly damaging	0.87
R0310:Khnyn	UTSW	14	56,125,425 (GRCm39)	missense	probably damaging	1.00
R1822:Khnyn	UTSW	14	56,123,309 (GRCm39)	missense	probably damaging	1.00
R2248:Khnyn	UTSW	14	56,124,195 (GRCm39)	missense	probably benign	0.30
R4334:Khnyn	UTSW	14	56,131,499 (GRCm39)	missense	probably damaging	1.00
R4600:Khnyn	UTSW	14	56,124,438 (GRCm39)	missense	probably benign	0.02
R4731:Khnyn	UTSW	14	56,123,946 (GRCm39)	splice site	probably null
R4732:Khnyn	UTSW	14	56,123,946 (GRCm39)	splice site	probably null
R4733:Khnyn	UTSW	14	56,123,946 (GRCm39)	splice site	probably null
R5063:Khnyn	UTSW	14	56,124,660 (GRCm39)	nonsense	probably null
R5434:Khnyn	UTSW	14	56,124,957 (GRCm39)	missense	probably damaging	1.00
R5908:Khnyn	UTSW	14	56,124,523 (GRCm39)	missense	probably benign
R5928:Khnyn	UTSW	14	56,123,344 (GRCm39)	missense	probably damaging	1.00
R6144:Khnyn	UTSW	14	56,125,296 (GRCm39)	missense	probably damaging	0.98
R6147:Khnyn	UTSW	14	56,125,060 (GRCm39)	missense	probably damaging	1.00
R6353:Khnyn	UTSW	14	56,131,760 (GRCm39)	missense	possibly damaging	0.89
R7179:Khnyn	UTSW	14	56,131,811 (GRCm39)	missense	probably damaging	1.00
R7658:Khnyn	UTSW	14	56,124,596 (GRCm39)	nonsense	probably null
R7755:Khnyn	UTSW	14	56,125,425 (GRCm39)	missense	probably damaging	1.00
R7831:Khnyn	UTSW	14	56,125,303 (GRCm39)	critical splice donor site	probably null
R7947:Khnyn	UTSW	14	56,125,059 (GRCm39)	missense	probably damaging	1.00
R8006:Khnyn	UTSW	14	56,125,047 (GRCm39)	missense	probably benign	0.11
R8546:Khnyn	UTSW	14	56,123,275 (GRCm39)	missense	probably benign	0.00
R8753:Khnyn	UTSW	14	56,125,223 (GRCm39)	missense	possibly damaging	0.68
R8877:Khnyn	UTSW	14	56,131,782 (GRCm39)	missense	possibly damaging	0.94
R8901:Khnyn	UTSW	14	56,124,043 (GRCm39)	missense	probably damaging	1.00
R8911:Khnyn	UTSW	14	56,124,735 (GRCm39)	missense	probably benign	0.00
R9541:Khnyn	UTSW	14	56,124,109 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CAGTTAAGTGAATGAGTTTGGAGAC -3'
(R):5'- ACGTCACAGAGATGACCTGG -3'

Sequencing Primer
(F):5'- AATGAGTTTGGAGACTGACCTC -3'
(R):5'- AGAGATGACCTGGCTACCTC -3'

Posted On

2015-06-24