Mutagenetix > Incidental Mutation

Incidental Mutation 'R6876:Mink1'

536427

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

044972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6876 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70453707-70505309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70498261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 553 (A553S)

Ref Sequence

ENSEMBL: ENSMUSP00000078234 (fasta)

Gene Model

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

AlphaFold

Q9JM52

Predicted Effect

probably benign
Transcript: ENSMUST00000072237
AA Change: A556S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827
AA Change: A556S

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 benign
Transcript: ENSMUST00000072873
AA Change: A556S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827
AA Change: A556S

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 benign
Transcript: ENSMUST00000079244
AA Change: A553S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827
AA Change: A553S

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: ENSMUST00000102558
AA Change: A556S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827
AA Change: A556S

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 benign
Transcript: ENSMUST00000102559
AA Change: A556S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827
AA Change: A556S

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: A409S

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: 99.4%
20x: 98.0%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,044,288 (GRCm39)	T201A	probably damaging	Het
Abca12	T	A	1: 71,302,667 (GRCm39)	D2184V	probably damaging	Het
Abcf1	C	T	17: 36,270,136 (GRCm39)	D641N	probably benign	Het
Adgrv1	C	A	13: 81,303,273 (GRCm39)		probably null	Het
Aftph	T	C	11: 20,659,744 (GRCm39)	E693G	probably damaging	Het
Ahnak	A	G	19: 8,991,484 (GRCm39)	D4256G	probably damaging	Het
Arv1	A	G	8: 125,457,651 (GRCm39)	K185R	probably damaging	Het
Ces4a	T	A	8: 105,871,624 (GRCm39)	V258D	possibly damaging	Het
Col6a5	T	C	9: 105,814,506 (GRCm39)	D502G	unknown	Het
Diaph1	A	T	18: 38,029,426 (GRCm39)	H335Q	unknown	Het
Dtna	G	A	18: 23,744,167 (GRCm39)	V404I	probably benign	Het
Ephb1	T	C	9: 101,861,319 (GRCm39)	D615G	probably damaging	Het
Gimap3	A	T	6: 48,742,855 (GRCm39)	I25N	probably damaging	Het
Hao1	A	G	2: 134,343,069 (GRCm39)	V274A	probably benign	Het
Hirip3	T	C	7: 126,463,321 (GRCm39)	S426P	probably damaging	Het
Igkv4-69	T	C	6: 69,260,818 (GRCm39)	D103G	probably damaging	Het
Kdm8	T	C	7: 125,051,830 (GRCm39)	V141A	probably benign	Het
Mpl	T	A	4: 118,314,317 (GRCm39)	Y60F	probably damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo5a	C	A	9: 75,067,772 (GRCm39)	R609S	probably benign	Het
Myo5b	A	T	18: 74,841,026 (GRCm39)	H969L	probably benign	Het
Or1n2	T	A	2: 36,797,834 (GRCm39)	I292N	probably damaging	Het
Or2h2c	G	C	17: 37,422,098 (GRCm39)	Q259E	probably damaging	Het
Or2y16	T	C	11: 49,335,068 (GRCm39)	L130P	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,205,925 (GRCm39)	W207R	probably damaging	Het
Qng1	T	C	13: 58,532,910 (GRCm39)	D20G	probably damaging	Het
Rfx6	A	G	10: 51,596,087 (GRCm39)	K457E	probably damaging	Het
Sim1	A	G	10: 50,859,791 (GRCm39)	E551G	possibly damaging	Het
Soat2	T	C	15: 102,069,049 (GRCm39)	F358S	probably damaging	Het
Tes3-ps	A	G	13: 49,647,195 (GRCm39)	K24E	probably benign	Het
Txndc16	A	G	14: 45,400,497 (GRCm39)	F335L	possibly damaging	Het
Unc45b	T	C	11: 82,813,738 (GRCm39)	Y382H	probably benign	Het
Vmn2r60	A	G	7: 41,785,087 (GRCm39)	T100A	probably null	Het
Vmn2r93	T	A	17: 18,525,450 (GRCm39)	H369Q	probably benign	Het
Yy1	A	G	12: 108,772,518 (GRCm39)	I265V	probably benign	Het
Zfp54	A	T	17: 21,654,239 (GRCm39)	K244N	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGGGATGTTGTAACAAGC -3'
(R):5'- TAGTGCGCAGAAGACACCAG -3'

Sequencing Primer
(F):5'- CTGGGATGTTGTAACAAGCACTGAG -3'
(R):5'- CAGTGAGCACAAACATGTACTC -3'

Posted On

2018-10-18