Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00709:Mink1'

12010

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mink1

Ensembl Gene

ENSMUSG00000020827

Gene Name

misshapen-like kinase 1 (zebrafish)

Synonyms

Misshapen/NIKs-related kinase, Map4k6, Ysk2, MINK

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00709

Quality Score

Status

Chromosome

Chromosomal Location

70453707-70505309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70503845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1255 (I1255N)

Ref Sequence

ENSEMBL: ENSMUSP00000072091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014753] [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102556] [ENSMUST00000102558] [ENSMUST00000102559] [ENSMUST00000144960] [ENSMUST00000135865] [ENSMUST00000180052]

AlphaFold

Q9JM52

Predicted Effect

probably benign
Transcript: ENSMUST00000014753

SMART Domains

Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Neur_chan_LBD	24	240	2.9e-65	PFAM
Pfam:Neur_chan_memb	247	475	6.5e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000072237
AA Change: I1255N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: I1255N

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	719	738	N/A	INTRINSIC
low complexity region	837	874	N/A	INTRINSIC
CNH	1026	1324	1.58e-113	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072873
AA Change: I1248N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: I1248N

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	719	738	N/A	INTRINSIC
low complexity region	829	853	N/A	INTRINSIC
CNH	1019	1317	1.58e-113	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079244
AA Change: I1245N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: I1245N

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	314	338	N/A	INTRINSIC
coiled coil region	348	493	N/A	INTRINSIC
low complexity region	554	566	N/A	INTRINSIC
low complexity region	617	630	N/A	INTRINSIC
low complexity region	643	656	N/A	INTRINSIC
low complexity region	716	735	N/A	INTRINSIC
low complexity region	826	850	N/A	INTRINSIC
CNH	1016	1314	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102556

SMART Domains

Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Neur_chan_LBD	24	240	5.4e-65	PFAM
Pfam:Neur_chan_memb	247	474	2.9e-53	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102558
AA Change: I1211N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: I1211N

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	792	816	N/A	INTRINSIC
CNH	982	1280	1.58e-113	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102559
AA Change: I1219N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: I1219N

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	800	824	N/A	INTRINSIC
CNH	990	1288	1.58e-113	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000136663
AA Change: I1108N

SMART Domains

Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: I1108N

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	140	2.3e-22	PFAM
Pfam:Pkinase	1	143	1.6e-30	PFAM
low complexity region	161	192	N/A	INTRINSIC
coiled coil region	204	349	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	474	487	N/A	INTRINSIC
low complexity region	500	513	N/A	INTRINSIC
low complexity region	573	592	N/A	INTRINSIC
low complexity region	691	728	N/A	INTRINSIC
CNH	880	1178	1.58e-113	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134836

Predicted Effect

probably benign
Transcript: ENSMUST00000144960

SMART Domains

Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135865

SMART Domains

Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	101	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180052

SMART Domains

Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1d	T	C	12: 78,896,528 (GRCm39)	H113R	probably benign	Het
Cd59a	A	G	2: 103,944,425 (GRCm39)	N91S	probably benign	Het
Ddx21	C	A	10: 62,434,181 (GRCm39)	E193*	probably null	Het
Orc1	G	T	4: 108,447,975 (GRCm39)		probably null	Het
Prelid2	T	A	18: 42,045,488 (GRCm39)	N141Y	probably damaging	Het
Rad50	A	G	11: 53,560,469 (GRCm39)	L1051S	possibly damaging	Het
Sidt1	C	T	16: 44,082,374 (GRCm39)		probably benign	Het
Slc25a24	A	G	3: 109,066,670 (GRCm39)	K275E	probably damaging	Het
Stx19	A	G	16: 62,642,943 (GRCm39)	N253S	probably benign	Het
Tanc2	A	G	11: 105,689,621 (GRCm39)	Y261C	probably damaging	Het
Wdr62	A	G	7: 29,941,486 (GRCm39)	L706P	probably benign	Het

Other mutations in Mink1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Mink1	APN	11	70,494,638 (GRCm39)	missense	probably damaging	0.99
IGL01064:Mink1	APN	11	70,494,307 (GRCm39)	missense	probably benign	0.05
IGL02612:Mink1	APN	11	70,488,052 (GRCm39)	missense	probably damaging	1.00
IGL02797:Mink1	APN	11	70,501,176 (GRCm39)	missense	probably damaging	1.00
IGL03056:Mink1	APN	11	70,503,409 (GRCm39)	critical splice donor site	probably null
IGL03066:Mink1	APN	11	70,499,715 (GRCm39)	missense	probably benign	0.01
IGL03185:Mink1	APN	11	70,494,686 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Mink1	UTSW	11	70,489,714 (GRCm39)	missense	probably benign	0.05
R0025:Mink1	UTSW	11	70,503,868 (GRCm39)	missense	probably damaging	1.00
R0025:Mink1	UTSW	11	70,503,868 (GRCm39)	missense	probably damaging	1.00
R0488:Mink1	UTSW	11	70,488,030 (GRCm39)	missense	probably damaging	1.00
R0637:Mink1	UTSW	11	70,492,502 (GRCm39)	missense	probably damaging	0.96
R0828:Mink1	UTSW	11	70,500,971 (GRCm39)	nonsense	probably null
R1081:Mink1	UTSW	11	70,497,861 (GRCm39)	missense	probably benign	0.07
R1175:Mink1	UTSW	11	70,502,166 (GRCm39)	missense	probably benign	0.02
R1441:Mink1	UTSW	11	70,497,940 (GRCm39)	missense	possibly damaging	0.72
R1532:Mink1	UTSW	11	70,492,833 (GRCm39)	missense	probably null	1.00
R1545:Mink1	UTSW	11	70,489,717 (GRCm39)	missense	possibly damaging	0.60
R1634:Mink1	UTSW	11	70,499,706 (GRCm39)	missense	probably benign	0.00
R1932:Mink1	UTSW	11	70,499,254 (GRCm39)	critical splice donor site	probably null
R2033:Mink1	UTSW	11	70,503,334 (GRCm39)	missense	probably damaging	1.00
R2184:Mink1	UTSW	11	70,494,623 (GRCm39)	missense	probably damaging	1.00
R2267:Mink1	UTSW	11	70,492,550 (GRCm39)	splice site	probably null
R2268:Mink1	UTSW	11	70,492,550 (GRCm39)	splice site	probably null
R2859:Mink1	UTSW	11	70,503,334 (GRCm39)	missense	probably damaging	1.00
R3713:Mink1	UTSW	11	70,499,776 (GRCm39)	missense	possibly damaging	0.93
R3714:Mink1	UTSW	11	70,499,776 (GRCm39)	missense	possibly damaging	0.93
R3715:Mink1	UTSW	11	70,499,776 (GRCm39)	missense	possibly damaging	0.93
R3716:Mink1	UTSW	11	70,498,587 (GRCm39)	missense	probably damaging	0.98
R3717:Mink1	UTSW	11	70,498,587 (GRCm39)	missense	probably damaging	0.98
R4607:Mink1	UTSW	11	70,496,893 (GRCm39)	missense	possibly damaging	0.72
R4735:Mink1	UTSW	11	70,500,086 (GRCm39)	splice site	probably null
R4790:Mink1	UTSW	11	70,489,867 (GRCm39)	missense	probably damaging	0.99
R4847:Mink1	UTSW	11	70,492,854 (GRCm39)	missense	probably damaging	1.00
R4860:Mink1	UTSW	11	70,502,418 (GRCm39)	missense	probably damaging	0.98
R4860:Mink1	UTSW	11	70,502,418 (GRCm39)	missense	probably damaging	0.98
R5081:Mink1	UTSW	11	70,495,970 (GRCm39)	missense	probably damaging	0.98
R5310:Mink1	UTSW	11	70,498,169 (GRCm39)	missense	probably benign	0.33
R5677:Mink1	UTSW	11	70,495,991 (GRCm39)	missense	possibly damaging	0.66
R5767:Mink1	UTSW	11	70,496,901 (GRCm39)	missense	possibly damaging	0.53
R5795:Mink1	UTSW	11	70,498,616 (GRCm39)	missense	possibly damaging	0.86
R5888:Mink1	UTSW	11	70,500,885 (GRCm39)	unclassified	probably benign
R5950:Mink1	UTSW	11	70,500,412 (GRCm39)	missense	possibly damaging	0.81
R6024:Mink1	UTSW	11	70,489,915 (GRCm39)	missense	possibly damaging	0.71
R6034:Mink1	UTSW	11	70,497,866 (GRCm39)	small deletion	probably benign
R6034:Mink1	UTSW	11	70,497,866 (GRCm39)	small deletion	probably benign
R6058:Mink1	UTSW	11	70,502,546 (GRCm39)	missense	possibly damaging	0.96
R6144:Mink1	UTSW	11	70,501,478 (GRCm39)	missense	possibly damaging	0.66
R6154:Mink1	UTSW	11	70,500,927 (GRCm39)	missense	possibly damaging	0.46
R6218:Mink1	UTSW	11	70,489,720 (GRCm39)	missense	possibly damaging	0.94
R6262:Mink1	UTSW	11	70,494,151 (GRCm39)	splice site	probably null
R6269:Mink1	UTSW	11	70,489,813 (GRCm39)	missense	probably damaging	1.00
R6273:Mink1	UTSW	11	70,502,261 (GRCm39)	nonsense	probably null
R6301:Mink1	UTSW	11	70,503,120 (GRCm39)	missense	possibly damaging	0.71
R6603:Mink1	UTSW	11	70,500,419 (GRCm39)	missense	probably damaging	0.96
R6876:Mink1	UTSW	11	70,498,261 (GRCm39)	missense	probably benign	0.02
R7030:Mink1	UTSW	11	70,498,601 (GRCm39)	missense	possibly damaging	0.46
R7050:Mink1	UTSW	11	70,503,158 (GRCm39)	missense	possibly damaging	0.93
R7094:Mink1	UTSW	11	70,500,901 (GRCm39)	splice site	probably null
R7135:Mink1	UTSW	11	70,494,329 (GRCm39)	missense	probably damaging	1.00
R7238:Mink1	UTSW	11	70,502,305 (GRCm39)	critical splice donor site	probably null
R7320:Mink1	UTSW	11	70,489,899 (GRCm39)	missense	probably benign	0.23
R7396:Mink1	UTSW	11	70,495,994 (GRCm39)	missense	possibly damaging	0.73
R7446:Mink1	UTSW	11	70,500,455 (GRCm39)	missense	probably benign	0.18
R7723:Mink1	UTSW	11	70,503,736 (GRCm39)	missense	probably benign	0.16
R7896:Mink1	UTSW	11	70,503,108 (GRCm39)	missense	possibly damaging	0.71
R8058:Mink1	UTSW	11	70,494,594 (GRCm39)	nonsense	probably null
R8082:Mink1	UTSW	11	70,504,103 (GRCm39)	missense	possibly damaging	0.71
R8160:Mink1	UTSW	11	70,496,907 (GRCm39)	nonsense	probably null
R8335:Mink1	UTSW	11	70,500,401 (GRCm39)	missense	probably damaging	0.97
R8353:Mink1	UTSW	11	70,501,154 (GRCm39)	missense	possibly damaging	0.70
R8453:Mink1	UTSW	11	70,501,154 (GRCm39)	missense	possibly damaging	0.70
R8732:Mink1	UTSW	11	70,500,902 (GRCm39)	critical splice acceptor site	probably null
R9072:Mink1	UTSW	11	70,499,207 (GRCm39)	missense	possibly damaging	0.86
R9073:Mink1	UTSW	11	70,499,207 (GRCm39)	missense	possibly damaging	0.86
R9324:Mink1	UTSW	11	70,502,477 (GRCm39)	missense	probably damaging	0.98
R9596:Mink1	UTSW	11	70,497,915 (GRCm39)	missense	possibly damaging	0.96

Posted On

2012-12-06