Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00434:Nkiras2'

4498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nkiras2

Ensembl Gene

ENSMUSG00000017837

Gene Name

NFKB inhibitor interacting Ras-like protein 2

Synonyms

KBRAS2, 4930527H08Rik, 2410003M04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00434

Quality Score

Status

Chromosome

Chromosomal Location

100510070-100518433 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100515808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 45 (G45D)

Ref Sequence

ENSEMBL: ENSMUSP00000114456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014339] [ENSMUST00000017981] [ENSMUST00000051947] [ENSMUST00000103119] [ENSMUST00000107376] [ENSMUST00000142993]

AlphaFold

Q9CR56

Predicted Effect

probably benign
Transcript: ENSMUST00000014339

SMART Domains

Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195

Domain	Start	End	E-Value	Type
TPR	28	61	3.39e-7	SMART
TPR	62	95	1.11e-2	SMART
TPR	96	129	4.09e-1	SMART
Blast:TPR	142	175	4e-13	BLAST
Blast:TPR	176	209	1e-13	BLAST
TPR	210	243	2.29e-4	SMART
TPR	256	289	1.11e-2	SMART
TPR	294	327	2.87e-5	SMART
TPR	328	361	1.83e-3	SMART
DnaJ	380	443	2.93e-29	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017981
AA Change: G45D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017981
Gene: ENSMUSG00000017837
AA Change: G45D

Domain	Start	End	E-Value	Type
Pfam:Arf	1	168	4.3e-9	PFAM
Pfam:Roc	6	124	2.2e-13	PFAM
Pfam:MMR_HSR1	6	165	3.1e-6	PFAM
Pfam:Ras	6	170	2.9e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051947
AA Change: G45D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059559
Gene: ENSMUSG00000017837
AA Change: G45D

Domain	Start	End	E-Value	Type
Pfam:Arf	1	168	5.6e-9	PFAM
Pfam:Miro	6	123	2.2e-21	PFAM
Pfam:Ras	6	170	4.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103119

SMART Domains

Protein: ENSMUSP00000099408
Gene: ENSMUSG00000014198

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
ZnF_U1	72	108	4.36e-2	SMART
ZnF_C2H2	77	99	1.51e0	SMART
low complexity region	125	141	N/A	INTRINSIC
low complexity region	143	161	N/A	INTRINSIC
low complexity region	181	200	N/A	INTRINSIC
ZnF_U1	225	259	5.72e-4	SMART
ZnF_C2H2	228	252	7.11e0	SMART
ZnF_U1	294	328	7.44e-3	SMART
ZnF_C2H2	297	321	4.34e0	SMART
low complexity region	347	365	N/A	INTRINSIC
low complexity region	382	405	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107376
AA Change: G45D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102999
Gene: ENSMUSG00000017837
AA Change: G45D

Domain	Start	End	E-Value	Type
Pfam:Arf	1	168	5.6e-9	PFAM
Pfam:Miro	6	123	2.2e-21	PFAM
Pfam:Ras	6	170	4.5e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127547

Predicted Effect

probably damaging
Transcript: ENSMUST00000142993
AA Change: G45D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114456
Gene: ENSMUSG00000017837
AA Change: G45D

Domain	Start	End	E-Value	Type
Pfam:Arf	1	151	1.3e-8	PFAM
Pfam:Miro	6	123	1.4e-21	PFAM
Pfam:MMR_HSR1	6	145	4.5e-6	PFAM
Pfam:Ras	6	153	2.9e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148560

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,269,181 (GRCm39)	V1098A	probably damaging	Het
Bltp1	T	C	3: 37,041,448 (GRCm39)	F2609L	probably damaging	Het
Ccdc126	C	T	6: 49,311,239 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,135,271 (GRCm39)	L54P	probably damaging	Het
Cdsn	A	T	17: 35,865,740 (GRCm39)	S90C	unknown	Het
Clcn6	G	T	4: 148,098,195 (GRCm39)	D581E	probably damaging	Het
Clec4f	T	A	6: 83,630,198 (GRCm39)	H120L	possibly damaging	Het
Col12a1	T	C	9: 79,560,614 (GRCm39)	T1838A	probably benign	Het
Col22a1	T	C	15: 71,878,524 (GRCm39)	D211G	possibly damaging	Het
Cpne8	T	C	15: 90,381,261 (GRCm39)		probably benign	Het
Dgkk	T	A	X: 6,772,697 (GRCm39)	M462K	probably benign	Het
Dhx29	T	A	13: 113,091,759 (GRCm39)	H834Q	probably benign	Het
Esyt1	A	G	10: 128,353,504 (GRCm39)	Y578H	possibly damaging	Het
Fnip2	C	A	3: 79,419,796 (GRCm39)		probably benign	Het
Fut1	T	G	7: 45,268,855 (GRCm39)	C270G	probably damaging	Het
Ganab	T	A	19: 8,884,707 (GRCm39)	V170D	probably damaging	Het
Gys1	T	A	7: 45,094,256 (GRCm39)	M364K	possibly damaging	Het
Ighv1-85	A	C	12: 115,963,654 (GRCm39)	C115W	probably damaging	Het
Igkv4-74	T	G	6: 69,162,044 (GRCm39)	T42P	probably damaging	Het
Jmjd4	A	G	11: 59,341,321 (GRCm39)	Y84C	probably damaging	Het
Kif11	A	C	19: 37,399,857 (GRCm39)	E781D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Klf1	C	T	8: 85,628,628 (GRCm39)	P9S	possibly damaging	Het
Lrrn3	T	C	12: 41,502,191 (GRCm39)		probably benign	Het
Ltbp4	C	A	7: 27,028,230 (GRCm39)	R309L	probably damaging	Het
Marchf10	T	C	11: 105,293,014 (GRCm39)	E131G	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mgme1	T	A	2: 144,121,056 (GRCm39)		probably benign	Het
Orc2	A	T	1: 58,532,875 (GRCm39)	D16E	possibly damaging	Het
Pcyox1l	T	C	18: 61,830,613 (GRCm39)	T420A	probably benign	Het
Pira13	C	A	7: 3,826,088 (GRCm39)	G302C	probably damaging	Het
Pm20d1	A	G	1: 131,741,738 (GRCm39)		probably benign	Het
Ppp1r3c	T	C	19: 36,711,503 (GRCm39)	D89G	probably damaging	Het
Ppp2ca	G	A	11: 52,012,776 (GRCm39)	R302H	probably benign	Het
Riok3	T	C	18: 12,281,904 (GRCm39)	V291A	probably damaging	Het
Rragd	A	G	4: 33,007,219 (GRCm39)		probably benign	Het
Scai	C	A	2: 38,998,406 (GRCm39)	L174F	probably damaging	Het
Slc25a44	T	C	3: 88,323,369 (GRCm39)	I227V	probably benign	Het
Slc35f1	T	C	10: 52,938,548 (GRCm39)	L160P	probably damaging	Het
Slc38a1	A	G	15: 96,483,504 (GRCm39)	Y275H	possibly damaging	Het
Slco6b1	A	G	1: 96,916,375 (GRCm39)		noncoding transcript	Het
Spag8	G	T	4: 43,652,890 (GRCm39)	C190*	probably null	Het
Tbr1	T	C	2: 61,635,625 (GRCm39)	F192L	probably benign	Het
Tti1	C	T	2: 157,850,886 (GRCm39)	E118K	probably damaging	Het
Tti1	T	A	2: 157,850,885 (GRCm39)	E118V	probably damaging	Het
Vcan	G	T	13: 89,852,821 (GRCm39)	P713Q	probably damaging	Het
Vcf2	A	T	X: 149,181,395 (GRCm39)	V132E	possibly damaging	Het
Wt1	G	T	2: 104,974,486 (GRCm39)		probably null	Het
Xylt1	T	A	7: 117,249,912 (GRCm39)	I694N	probably damaging	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Nkiras2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03080:Nkiras2	APN	11	100,515,105 (GRCm39)	splice site	probably null
R0543:Nkiras2	UTSW	11	100,515,018 (GRCm39)	unclassified	probably benign
R0733:Nkiras2	UTSW	11	100,515,758 (GRCm39)	splice site	probably null
R1192:Nkiras2	UTSW	11	100,516,806 (GRCm39)	splice site	probably null
R1698:Nkiras2	UTSW	11	100,515,989 (GRCm39)	missense	probably damaging	1.00
R5727:Nkiras2	UTSW	11	100,515,853 (GRCm39)	missense	probably damaging	1.00
R5973:Nkiras2	UTSW	11	100,516,866 (GRCm39)	missense	probably damaging	0.99
R6427:Nkiras2	UTSW	11	100,515,861 (GRCm39)	missense	probably damaging	1.00
R7961:Nkiras2	UTSW	11	100,510,628 (GRCm39)	unclassified	probably benign
R8022:Nkiras2	UTSW	11	100,515,113 (GRCm39)	missense	probably benign	0.23
R8949:Nkiras2	UTSW	11	100,510,158 (GRCm39)	intron	probably benign

Posted On

2012-04-20