Mutagenetix > Incidental Mutation

Incidental Mutation 'R8335:Mink1'

644587

Institutional Source

Beutler Lab

Gene Symbol

Mink1

Ensembl Gene

ENSMUSG00000020827

Gene Name

misshapen-like kinase 1 (zebrafish)

Synonyms

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

MMRRC Submission

067863-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70453707-70505309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70500401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 784 (R784W)

Ref Sequence

ENSEMBL: ENSMUSP00000099619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102558] [ENSMUST00000102559]

AlphaFold

Q9JM52

Predicted Effect

probably damaging
Transcript: ENSMUST00000072237
AA Change: R821W

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

SMART Domains

Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: R821W

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

probably damaging
Transcript: ENSMUST00000072873
AA Change: R813W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: R813W

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

probably damaging
Transcript: ENSMUST00000079244
AA Change: R810W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: R810W

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 damaging
Transcript: ENSMUST00000102558
AA Change: R776W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: R776W

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

probably damaging
Transcript: ENSMUST00000102559
AA Change: R784W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: R784W

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

SMART Domains

Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827
AA Change: R674W

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

probably benign
Transcript: ENSMUST00000149845

Predicted Effect

probably benign
Transcript: ENSMUST00000178764

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

97% (33/34)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc47	C	G	11: 106,099,084 (GRCm39)	E202D	possibly damaging	Het
Ccdc47	T	C	11: 106,099,085 (GRCm39)	E202G	probably damaging	Het
Depdc1a	C	A	3: 159,228,859 (GRCm39)	P537Q	probably damaging	Het
Dync2h1	A	T	9: 7,084,941 (GRCm39)	M2816K	probably benign	Het
Gatb	T	C	3: 85,481,628 (GRCm39)		probably null	Het
Gm6356	A	G	14: 6,971,838 (GRCm38)	M99T	probably benign	Het
Ighv1-67	A	C	12: 115,567,744 (GRCm39)	V56G	probably damaging	Het
Il27ra	A	T	8: 84,766,130 (GRCm39)	L218Q	probably damaging	Het
Madd	G	A	2: 91,000,584 (GRCm39)	R494C	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mttp	C	T	3: 137,808,973 (GRCm39)	D697N	possibly damaging	Het
Mug2	A	T	6: 122,017,543 (GRCm39)	M427L	probably benign	Het
Or10ag57	A	G	2: 87,218,204 (GRCm39)	I52V	probably benign	Het
Or13l2	T	C	3: 97,318,024 (GRCm39)	N158D	probably benign	Het
Or4a67	G	T	2: 88,598,117 (GRCm39)	P181T	probably damaging	Het
Or8k3b	T	A	2: 86,520,512 (GRCm39)	D269V	probably benign	Het
Paxip1	T	C	5: 27,971,122 (GRCm39)	H409R	unknown	Het
Pkp3	T	C	7: 140,667,669 (GRCm39)	I490T	probably damaging	Het
Plekhg4	G	T	8: 106,102,848 (GRCm39)	V236L	probably damaging	Het
Pm20d2	T	C	4: 33,189,245 (GRCm39)	S46G	probably benign	Het
Prss33	A	G	17: 24,053,569 (GRCm39)		probably null	Het
Ptpn3	A	T	4: 57,235,286 (GRCm39)	L358I	probably damaging	Het
Pxdn	A	G	12: 30,052,096 (GRCm39)	T758A	probably damaging	Het
Sall3	G	A	18: 81,012,801 (GRCm39)	R1212C	probably benign	Het
Sox6	G	A	7: 115,300,949 (GRCm39)	L173F	probably damaging	Het
Spata20	T	C	11: 94,373,369 (GRCm39)	K501E	probably benign	Het
Stat2	G	A	10: 128,112,452 (GRCm39)	V31I	possibly damaging	Het
Synpo2	T	A	3: 122,908,183 (GRCm39)	N378Y	probably damaging	Het
Tacr2	A	T	10: 62,100,946 (GRCm39)	H352L	probably benign	Het
Tmem214	A	G	5: 31,029,466 (GRCm39)	K230E	possibly damaging	Het
Tnfsf8	A	G	4: 63,752,352 (GRCm39)	S238P	probably damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Trhde	A	G	10: 114,322,609 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,707,077 (GRCm39)	I661M	probably benign	Het
Vmn1r209	T	A	13: 22,989,977 (GRCm39)	M238L	probably damaging	Het
Vmn2r29	A	G	7: 7,234,445 (GRCm39)	S814P	probably damaging	Het
Vsig10	T	C	5: 117,486,435 (GRCm39)	L448P	probably damaging	Het
Xpo1	T	G	11: 23,230,603 (GRCm39)		probably null	Het
Zfp616	A	T	11: 73,974,726 (GRCm39)	K423*	probably null	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
IGL00709:Mink1	APN	11	70,503,845 (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
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

Predicted Primers

PCR Primer
(F):5'- GCTATAAGCGAGCAATTGGC -3'
(R):5'- CCCACAGTGACAGAGTAGTG -3'

Sequencing Primer
(F):5'- GCAATTGGCGAGGTTAGTGAG -3'
(R):5'- AGAAGCTACTAACTCTGTTCTGTTC -3'

Posted On

2020-09-02