Mutagenetix > Incidental Mutation

Incidental Mutation 'R6144:Khnyn'

488766

Institutional Source

Beutler Lab

Gene Symbol

Khnyn

Ensembl Gene

ENSMUSG00000047153

Gene Name

KH and NYN domain containing

Synonyms

9130227C08Rik

MMRRC Submission

044291-MU

Accession Numbers

Essential gene?

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

Stock #

R6144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56122404-56136232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56125296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 485 (V485A)

Ref Sequence

ENSEMBL: ENSMUSP00000153796 (fasta)

Gene Model

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

AlphaFold

Q80U38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022831
AA Change: V485A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: V485A

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 damaging
Transcript: ENSMUST00000228462
AA Change: V485A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.3487

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,186,564 (GRCm39)	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,837,347 (GRCm39)	R246H	probably damaging	Het
Agbl1	A	G	7: 76,069,832 (GRCm39)	T203A	probably benign	Het
Alms1	T	A	6: 85,600,056 (GRCm39)	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,739,639 (GRCm39)		probably benign	Het
Arap3	C	A	18: 38,118,486 (GRCm39)	G814C	probably damaging	Het
Armc9	T	G	1: 86,172,301 (GRCm39)	I5S	probably benign	Het
Catsperg1	T	C	7: 28,910,120 (GRCm39)	T74A	probably damaging	Het
Cdca7l	T	A	12: 117,837,446 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,733,153 (GRCm39)		probably benign	Het
Chpt1	A	G	10: 88,288,955 (GRCm39)		probably benign	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,803,148 (GRCm39)	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,082 (GRCm39)	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,356,887 (GRCm39)		probably null	Het
Creb3l1	T	C	2: 91,822,350 (GRCm39)	H212R	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,310,053 (GRCm39)	D254G	possibly damaging	Het
Dennd1b	A	G	1: 139,008,993 (GRCm39)	H232R	probably damaging	Het
Dhx29	T	C	13: 113,101,105 (GRCm39)	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,529,476 (GRCm39)	I307T	possibly damaging	Het
Ep300	A	G	15: 81,485,435 (GRCm39)	S141G	unknown	Het
Evl	A	C	12: 108,619,290 (GRCm39)	K101T	probably damaging	Het
Exph5	G	A	9: 53,284,328 (GRCm39)	G470R	probably benign	Het
Flg	A	T	3: 93,190,515 (GRCm39)		probably benign	Het
Gm45704	T	A	8: 73,510,920 (GRCm39)			Het
Grm1	T	C	10: 10,955,640 (GRCm39)	M215V	probably benign	Het
Hadha	T	C	5: 30,345,994 (GRCm39)	D210G	probably benign	Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Hrc	A	T	7: 44,986,157 (GRCm39)	H436L	possibly damaging	Het
Hycc1	T	C	5: 24,171,367 (GRCm39)	S352G	possibly damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,131,917 (GRCm39)	R222L	probably benign	Het
Kifc5b	T	C	17: 27,140,826 (GRCm39)	V100A	probably benign	Het
Lsm10	T	C	4: 125,991,794 (GRCm39)	M50T	probably damaging	Het
Map3k6	T	G	4: 132,972,986 (GRCm39)	W382G	probably damaging	Het
Mink1	T	A	11: 70,501,478 (GRCm39)	F922I	possibly damaging	Het
Mrap2	T	C	9: 87,057,871 (GRCm39)	V53A	probably damaging	Het
Mrps7	C	A	11: 115,495,000 (GRCm39)	A5E	probably benign	Het
Muc4	A	G	16: 32,587,298 (GRCm39)	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,689,585 (GRCm39)	S249P	probably damaging	Het
Neil3	T	C	8: 54,052,447 (GRCm39)	T384A	probably benign	Het
Noc3l	A	T	19: 38,787,399 (GRCm39)	I504K	probably damaging	Het
Nudt13	A	G	14: 20,357,839 (GRCm39)	N107S	probably benign	Het
Or11h4b	C	A	14: 50,918,392 (GRCm39)	R233L	probably benign	Het
Or2n1	T	A	17: 38,486,116 (GRCm39)	L47H	probably damaging	Het
Or5c1	T	A	2: 37,222,125 (GRCm39)	M122K	probably damaging	Het
Otub1	G	T	19: 7,176,518 (GRCm39)	Y205*	probably null	Het
Pals1	T	C	12: 78,871,563 (GRCm39)	V381A	possibly damaging	Het
Pierce2	C	A	9: 72,887,270 (GRCm39)	C79F	probably damaging	Het
Plpp7	T	A	2: 31,986,100 (GRCm39)	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011 (GRCm38)	Y188D	probably damaging	Het
Rigi	T	C	4: 40,229,551 (GRCm39)	I78V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpap1	A	T	2: 119,603,128 (GRCm39)	C602*	probably null	Het
Sbds	T	C	5: 130,275,185 (GRCm39)	K248E	probably benign	Het
Serpina10	A	T	12: 103,595,092 (GRCm39)	N42K	probably benign	Het
Slc7a8	A	G	14: 54,966,797 (GRCm39)	L368P	probably damaging	Het
Srrm1	T	C	4: 135,065,184 (GRCm39)		probably benign	Het
Sun2	C	T	15: 79,614,533 (GRCm39)	V288I	probably benign	Het
Tas2r107	C	A	6: 131,636,966 (GRCm39)	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,037,155 (GRCm39)	I268T	probably benign	Het
Tjp2	A	G	19: 24,097,437 (GRCm39)	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740 (GRCm38)	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,697,005 (GRCm39)		probably null	Het
Trdv2-2	A	T	14: 54,198,761 (GRCm39)	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,719,886 (GRCm39)	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,718,914 (GRCm39)	T582A	probably benign	Het
Zfp788	T	C	7: 41,299,193 (GRCm39)	S558P	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
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
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'- GCCATGGTGTAAGTAGCTGG -3'
(R):5'- CCAGGAGAGGAACAATTACCTG -3'

Sequencing Primer
(F):5'- TGGAGACAGCCTCTGAGG -3'
(R):5'- CAGGAGAGGAACAATTACCTGTCATC -3'

Posted On

2017-10-10