Mutagenetix > Incidental Mutation

Incidental Mutation 'R5434:Khnyn'

428228

Institutional Source

Beutler Lab

Gene Symbol

Khnyn

Ensembl Gene

ENSMUSG00000047153

Gene Name

KH and NYN domain containing

Synonyms

9130227C08Rik

MMRRC Submission

042999-MU

Accession Numbers

Essential gene?

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

Stock #

R5434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56122404-56136232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56124957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 404 (T404A)

Ref Sequence

ENSEMBL: ENSMUSP00000022831 (fasta)

Gene Model

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

AlphaFold

Q80U38

Predicted Effect

probably damaging
Transcript: ENSMUST00000022831
AA Change: T404A

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

SMART Domains

Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: T404A

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: T404A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.2967

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	G	T	9: 20,786,821 (GRCm39)	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,344,013 (GRCm39)	Y323C	probably damaging	Het
Arid5b	T	A	10: 67,932,719 (GRCm39)	H818L	possibly damaging	Het
Atg13	G	T	2: 91,515,110 (GRCm39)		probably null	Het
Bltp1	A	C	3: 36,929,665 (GRCm39)	D94A	probably damaging	Het
Bop1	T	C	15: 76,339,611 (GRCm39)	M245V	probably benign	Het
Ces2a	T	A	8: 105,464,041 (GRCm39)	F224L	probably damaging	Het
Cntnap5b	A	G	1: 99,999,926 (GRCm39)	H228R	probably benign	Het
Col9a2	A	T	4: 120,898,162 (GRCm39)	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744 (GRCm39)	T137N	probably benign	Het
Dennd4c	A	G	4: 86,729,693 (GRCm39)	N765S	probably benign	Het
Dnah12	A	G	14: 26,581,256 (GRCm39)	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,010,756 (GRCm39)	C123F	possibly damaging	Het
Flvcr1	C	A	1: 190,758,206 (GRCm39)	A29S	probably benign	Het
Frmd3	A	T	4: 74,106,033 (GRCm39)	I560F	probably damaging	Het
Galnt15	G	A	14: 31,771,800 (GRCm39)	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,006,405 (GRCm39)	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464 (GRCm39)	Y218*	probably null	Het
Hmcn2	C	A	2: 31,310,375 (GRCm39)	T3323N	probably damaging	Het
Idh1	T	A	1: 65,214,495 (GRCm39)	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,322,813 (GRCm39)		noncoding transcript	Het
Kcnj10	T	A	1: 172,197,047 (GRCm39)	V187E	probably damaging	Het
Lrp1b	T	A	2: 41,660,880 (GRCm39)	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,500,862 (GRCm39)	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mgp	T	A	6: 136,849,772 (GRCm39)	N62I	probably benign	Het
Ms4a6c	T	A	19: 11,448,588 (GRCm39)	H40Q	probably benign	Het
Necab3	A	G	2: 154,389,379 (GRCm39)	S121P	probably damaging	Het
Nfkb1	T	A	3: 135,332,372 (GRCm39)	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861 (GRCm39)	R486W	probably damaging	Het
Nwd2	A	G	5: 63,964,991 (GRCm39)	K1525R	probably benign	Het
Odad2	T	C	18: 7,222,550 (GRCm39)	K573R	probably benign	Het
Pbrm1	G	T	14: 30,806,968 (GRCm39)	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,237,783 (GRCm39)	S872P	possibly damaging	Het
Retsat	A	G	6: 72,578,518 (GRCm39)	I77V	probably damaging	Het
Rpl32	A	G	6: 115,783,996 (GRCm39)	F77L	probably benign	Het
Ryr3	A	T	2: 112,624,814 (GRCm39)	V2202D	probably damaging	Het
Sars2	G	A	7: 28,449,716 (GRCm39)	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,006,263 (GRCm39)	T275N	probably benign	Het
Sf3a1	C	A	11: 4,124,041 (GRCm39)	P296Q	probably damaging	Het
Sh3bgr	A	G	16: 96,025,744 (GRCm39)		probably benign	Het
St3gal3	A	G	4: 117,797,247 (GRCm39)	L332P	probably damaging	Het
Ston1	A	G	17: 88,952,739 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,018,649 (GRCm39)	S3383T	probably damaging	Het
Tektl1	A	T	10: 78,584,484 (GRCm39)	L346*	probably null	Het
Tnfsf14	A	G	17: 57,499,592 (GRCm39)	S87P	probably benign	Het
Trap1	T	C	16: 3,862,529 (GRCm39)	D583G	probably benign	Het
Ube3d	A	T	9: 86,309,460 (GRCm39)	I212N	possibly damaging	Het
Usp34	T	A	11: 23,362,271 (GRCm39)	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,628,387 (GRCm39)	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,767,470 (GRCm39)	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	C	T	3: 159,639,976 (GRCm39)	R536C	probably damaging	Het
Zfhx3	A	G	8: 109,519,031 (GRCm39)	D51G	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
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'- TTCAGTGTGCAGGGTGAACC -3'
(R):5'- AAGTAATGCTGGAGTCCGTG -3'

Sequencing Primer
(F):5'- TGTCAGAGGGCAGCTCCAATC -3'
(R):5'- TGTTACGGAGAGCGTCGAC -3'

Posted On

2016-09-01