Mutagenetix > Incidental Mutation

Incidental Mutation 'R5063:Khnyn'

386766

Institutional Source

Beutler Lab

Gene Symbol

Khnyn

Ensembl Gene

ENSMUSG00000047153

Gene Name

KH and NYN domain containing

Synonyms

9130227C08Rik

MMRRC Submission

042653-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56122404-56136232 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 56124660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 305 (K305*)

Ref Sequence

ENSEMBL: ENSMUSP00000153796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000063871] [ENSMUST00000172378] [ENSMUST00000228462]

AlphaFold

Q80U38

Predicted Effect

probably null
Transcript: ENSMUST00000022831
AA Change: K305*

SMART Domains

Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: K305*

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: ENSMUST00000063871

SMART Domains

Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
C1Q	57	197	6.3e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172378

SMART Domains

Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
C1Q	57	197	6.3e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227462

Predicted Effect

probably null
Transcript: ENSMUST00000228462
AA Change: K305*

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,315 (GRCm39)	H970R	probably benign	Het
Anapc1	T	C	2: 128,471,469 (GRCm39)	M1496V	possibly damaging	Het
Arhgef4	A	T	1: 34,763,296 (GRCm39)	T851S	probably benign	Het
Armh3	A	G	19: 45,874,394 (GRCm39)	I593T	possibly damaging	Het
Cacna1d	A	G	14: 29,773,340 (GRCm39)	S1782P	probably benign	Het
Capn13	T	A	17: 73,629,074 (GRCm39)	R578*	probably null	Het
Casp8	A	T	1: 58,883,533 (GRCm39)	H280L	probably damaging	Het
Cd274	G	T	19: 29,361,543 (GRCm39)	D284Y	probably damaging	Het
Cenpe	T	A	3: 134,976,715 (GRCm39)	C2441S	probably damaging	Het
Chn2	A	T	6: 54,267,272 (GRCm39)	K118*	probably null	Het
Chst12	G	T	5: 140,510,167 (GRCm39)	E265*	probably null	Het
Cp	C	A	3: 20,043,379 (GRCm39)	Q22K	probably benign	Het
Diaph3	A	T	14: 87,222,306 (GRCm39)	W404R	probably damaging	Het
Dnajb13	T	G	7: 100,160,030 (GRCm39)	E69A	probably damaging	Het
Dzip1l	A	G	9: 99,549,705 (GRCm39)	E725G	probably damaging	Het
Dzip3	T	A	16: 48,774,117 (GRCm39)	K373*	probably null	Het
Fmn1	C	T	2: 113,195,266 (GRCm39)	T322I	unknown	Het
Gbp9	T	C	5: 105,233,028 (GRCm39)	Y208C	probably benign	Het
Gtf2i	T	A	5: 134,289,425 (GRCm39)	K418N	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqcm	A	T	8: 76,472,914 (GRCm39)	D251V	probably damaging	Het
Itpr3	A	T	17: 27,308,885 (GRCm39)	I363F	possibly damaging	Het
Klf17	A	G	4: 117,617,856 (GRCm39)	V167A	possibly damaging	Het
Letm2	T	C	8: 26,071,795 (GRCm39)	D369G	probably benign	Het
Lrrc31	A	G	3: 30,744,085 (GRCm39)	V141A	possibly damaging	Het
Msh5	A	T	17: 35,261,164 (GRCm39)		probably null	Het
Neb	G	A	2: 52,113,224 (GRCm39)		probably benign	Het
Or10j5	T	A	1: 172,785,009 (GRCm39)	S216T	possibly damaging	Het
Or2t6	A	T	14: 14,175,593 (GRCm38)	M163K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	T	C	4: 140,469,191 (GRCm39)	I50V	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppy	A	G	11: 101,991,525 (GRCm39)	Y5H	probably benign	Het
Psmc1	T	C	12: 100,081,734 (GRCm39)	L112S	probably damaging	Het
Ptov1	A	G	7: 44,515,026 (GRCm39)	I195T	possibly damaging	Het
Rassf10	C	A	7: 112,553,631 (GRCm39)	D77E	probably benign	Het
Slc25a45	T	C	19: 5,934,490 (GRCm39)	S153P	possibly damaging	Het
Slco1a5	G	A	6: 142,204,791 (GRCm39)	R126C	probably damaging	Het
Srebf2	T	C	15: 82,061,652 (GRCm39)	V366A	probably benign	Het
St6galnac5	T	C	3: 152,686,772 (GRCm39)	S61G	probably benign	Het
Sult6b1	A	T	17: 79,213,005 (GRCm39)	V82D	probably benign	Het
Tep1	A	T	14: 51,088,084 (GRCm39)	C818S	possibly damaging	Het
Tex15	T	G	8: 34,072,638 (GRCm39)	F2728L	possibly damaging	Het
Tm9sf2	T	A	14: 122,382,558 (GRCm39)	F190Y	probably damaging	Het
Tmem175	T	C	5: 108,794,298 (GRCm39)	L476P	probably damaging	Het
Tmprss11c	T	C	5: 86,385,689 (GRCm39)	K248R	probably benign	Het
Tnk2	T	A	16: 32,489,668 (GRCm39)	F316I	probably damaging	Het
Vmn2r75	T	A	7: 85,813,372 (GRCm39)	M477L	probably benign	Het
Vmn2r83	A	C	10: 79,314,921 (GRCm39)	I390L	probably benign	Het
Vmn2r88	A	G	14: 51,648,603 (GRCm39)	Y49C	probably damaging	Het
Zdhhc4	T	A	5: 143,302,377 (GRCm39)	I318F	probably damaging	Het
Zmat4	A	T	8: 24,238,457 (GRCm39)	D27V	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
R4333:Khnyn	UTSW	14	56,131,499 (GRCm39)	missense	probably damaging	1.00
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
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'- ATTCGTAGGCACCAGAGTGG -3'
(R):5'- TAAGGCTTCCTGGAAACGCTG -3'

Sequencing Primer
(F):5'- TCGCCAGCAGTAAGAGGAC -3'
(R):5'- TGCCAGTCACCAAGTTGC -3'

Posted On

2016-06-06