Mutagenetix > Incidental Mutation

Incidental Mutation 'R4757:Ankk1'

358251

Institutional Source

Beutler Lab

Gene Symbol

Ankk1

Ensembl Gene

ENSMUSG00000032257

Gene Name

ankyrin repeat and kinase domain containing 1

Synonyms

9930020N01Rik

MMRRC Submission

041973-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4757 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49326494-49338321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49327230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 650 (M650L)

Ref Sequence

ENSEMBL: ENSMUSP00000034792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034792]

AlphaFold

Q8BZ25

Predicted Effect

probably benign
Transcript: ENSMUST00000034792
AA Change: M650L

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

SMART Domains

Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: M650L

Domain	Start	End	E-Value	Type
Pfam:Pkinase	35	298	4.1e-44	PFAM
Pfam:Pkinase_Tyr	36	297	7.6e-47	PFAM
ANK	369	398	1.36e-2	SMART
ANK	402	431	4.13e-2	SMART
ANK	435	464	3.51e-5	SMART
ANK	468	497	5.62e-4	SMART
ANK	501	530	5.71e-5	SMART
ANK	534	563	1.05e-3	SMART
ANK	567	596	1.12e-3	SMART
ANK	600	629	6.12e-5	SMART
ANK	633	662	1.59e-3	SMART
ANK	666	695	3.65e-3	SMART
ANK	699	728	8.39e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000216227

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Abcb1a	T	A	5: 8,787,632 (GRCm39)	V978D	probably damaging	Het
Acsm4	T	C	7: 119,297,900 (GRCm39)	V179A	probably benign	Het
Agtr1a	C	A	13: 30,565,842 (GRCm39)	Y302*	probably null	Het
Akap9	T	C	5: 4,058,382 (GRCm39)	I1677T	probably damaging	Het
Apod	T	A	16: 31,122,280 (GRCm39)	N65Y	probably damaging	Het
Bcl2l1	T	A	2: 152,624,178 (GRCm39)	N197Y	possibly damaging	Het
Brpf1	A	T	6: 113,292,072 (GRCm39)	I373F	probably damaging	Het
Car13	T	C	3: 14,726,615 (GRCm39)	V257A	probably damaging	Het
Ccdc150	A	T	1: 54,317,874 (GRCm39)	H271L	possibly damaging	Het
Cit	T	A	5: 116,135,608 (GRCm39)	I1836N	probably damaging	Het
Clec12b	A	G	6: 129,357,655 (GRCm39)	S68P	probably damaging	Het
Col4a4	A	G	1: 82,506,187 (GRCm39)	F298L	unknown	Het
Crct1	G	A	3: 92,922,093 (GRCm39)	Q15*	probably null	Het
Creld1	A	G	6: 113,469,208 (GRCm39)	E346G	probably benign	Het
Ctnnal1	T	A	4: 56,847,980 (GRCm39)	H53L	probably damaging	Het
Cyb5d1	T	C	11: 69,285,814 (GRCm39)	D74G	probably damaging	Het
Deptor	A	T	15: 55,075,674 (GRCm39)	S293C	probably damaging	Het
Dnajb12	A	G	10: 59,728,592 (GRCm39)	S187G	probably benign	Het
Duoxa2	G	T	2: 122,131,072 (GRCm39)	V78L	possibly damaging	Het
Fem1al	A	T	11: 29,775,454 (GRCm39)	M1K	probably null	Het
Fhod1	C	A	8: 106,074,443 (GRCm39)		probably benign	Het
Foxf2	C	T	13: 31,810,172 (GRCm39)	P37L	unknown	Het
Gabbr2	T	C	4: 46,875,675 (GRCm39)	N149S	probably damaging	Het
Gckr	G	T	5: 31,464,728 (GRCm39)	M344I	possibly damaging	Het
Herc6	G	A	6: 57,577,045 (GRCm39)		probably null	Het
Igf1	A	T	10: 87,751,287 (GRCm39)	E161V	probably benign	Het
Ighv8-13	T	A	12: 115,729,268 (GRCm39)		probably benign	Het
Igkv6-14	A	T	6: 70,412,426 (GRCm39)	L12*	probably null	Het
Kpnb1	C	T	11: 97,068,160 (GRCm39)	S270N	possibly damaging	Het
Lingo1	A	G	9: 56,527,209 (GRCm39)	V460A	probably benign	Het
Lsm6	T	C	8: 79,539,711 (GRCm39)		probably null	Het
Mccc1	C	T	3: 36,050,066 (GRCm39)	G42E	probably benign	Het
Mga	A	G	2: 119,734,120 (GRCm39)	K323E	possibly damaging	Het
Mks1	A	G	11: 87,753,850 (GRCm39)	*562W	probably null	Het
Mrgpra4	T	A	7: 47,630,686 (GRCm39)	E305V	probably damaging	Het
Msh4	T	A	3: 153,585,024 (GRCm39)	H360L	probably damaging	Het
Mthfsd	C	T	8: 121,825,737 (GRCm39)		probably null	Het
Myl12a	A	T	17: 71,303,798 (GRCm39)	F26L	possibly damaging	Het
Nedd4l	A	G	18: 65,298,676 (GRCm39)	S343G	probably damaging	Het
Nlgn1	T	A	3: 25,490,332 (GRCm39)	D465V	probably damaging	Het
Nlgn1	C	T	3: 25,490,507 (GRCm39)	V407I	possibly damaging	Het
Npsr1	T	C	9: 24,046,064 (GRCm39)	V61A	probably benign	Het
Nrxn2	A	G	19: 6,559,851 (GRCm39)	D160G	probably damaging	Het
Or2p2	T	C	13: 21,256,715 (GRCm39)	Y252C	probably damaging	Het
Or52d3	T	C	7: 104,229,404 (GRCm39)	Y184H	possibly damaging	Het
Or5b107	A	C	19: 13,143,277 (GRCm39)	S300R	probably benign	Het
Or5b113	G	T	19: 13,342,810 (GRCm39)	A273S	probably benign	Het
Or9g4	A	G	2: 85,504,664 (GRCm39)	F277S	probably damaging	Het
Pbx1	C	A	1: 168,023,450 (GRCm39)	R235L	probably damaging	Het
Pcnx4	T	C	12: 72,603,067 (GRCm39)	V443A	probably benign	Het
Pde7b	T	C	10: 20,423,688 (GRCm39)	T63A	probably benign	Het
Phf3	C	T	1: 30,859,908 (GRCm39)	G873D	probably damaging	Het
Phox2b	A	T	5: 67,256,197 (GRCm39)	Y30N	probably damaging	Het
Plch2	T	A	4: 155,080,690 (GRCm39)	I599F	possibly damaging	Het
Plekha8	A	G	6: 54,599,213 (GRCm39)	E249G	probably benign	Het
Pou2af1	T	A	9: 51,144,439 (GRCm39)	Y118N	possibly damaging	Het
Ppp3cc	T	A	14: 70,455,635 (GRCm39)	K489N	possibly damaging	Het
Sema4b	T	C	7: 79,866,577 (GRCm39)	L219P	probably damaging	Het
Slc6a5	T	G	7: 49,609,030 (GRCm39)	V745G	probably benign	Het
Slf2	A	G	19: 44,923,497 (GRCm39)	M104V	probably benign	Het
Slx1b	A	G	7: 126,291,701 (GRCm39)	V121A	probably benign	Het
Speer4e2	T	A	5: 15,026,222 (GRCm39)	H145L	probably benign	Het
Spen	T	A	4: 141,200,390 (GRCm39)	K2746*	probably null	Het
Stxbp5l	T	C	16: 37,008,996 (GRCm39)	Y681C	probably damaging	Het
Sv2b	T	C	7: 74,773,918 (GRCm39)	T518A	probably benign	Het
Tgm7	A	T	2: 120,926,870 (GRCm39)	H426Q	possibly damaging	Het
Tlx2	A	G	6: 83,046,900 (GRCm39)	F54S	probably benign	Het
Trp53bp2	A	T	1: 182,286,339 (GRCm39)	M1060L	probably benign	Het
Trpv5	T	A	6: 41,630,148 (GRCm39)	E647D	probably damaging	Het
Tut1	G	T	19: 8,936,672 (GRCm39)	K165N	possibly damaging	Het
Tyro3	A	G	2: 119,641,419 (GRCm39)	K543E	probably damaging	Het
Vmn2r69	T	A	7: 85,061,575 (GRCm39)	Y133F	probably damaging	Het
Zfhx4	T	A	3: 5,465,122 (GRCm39)	V1785D	possibly damaging	Het
Zfp451	A	G	1: 33,804,939 (GRCm39)	L1037P	probably damaging	Het
Zscan29	A	T	2: 120,991,392 (GRCm39)	F799I	possibly damaging	Het

Other mutations in Ankk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ankk1	APN	9	49,333,200 (GRCm39)	missense	probably benign	0.30
IGL00495:Ankk1	APN	9	49,327,143 (GRCm39)	missense	probably benign	0.00
IGL01316:Ankk1	APN	9	49,331,784 (GRCm39)	unclassified	probably benign
IGL01359:Ankk1	APN	9	49,327,328 (GRCm39)	missense	possibly damaging	0.95
IGL01464:Ankk1	APN	9	49,327,272 (GRCm39)	missense	probably benign	0.26
IGL01719:Ankk1	APN	9	49,328,081 (GRCm39)	missense	probably benign	0.08
IGL02057:Ankk1	APN	9	49,328,072 (GRCm39)	missense	probably damaging	1.00
IGL02549:Ankk1	APN	9	49,329,993 (GRCm39)	missense	probably damaging	1.00
IGL02690:Ankk1	APN	9	49,333,200 (GRCm39)	missense	probably damaging	0.99
IGL03083:Ankk1	APN	9	49,333,166 (GRCm39)	missense	probably benign	0.15
IGL03168:Ankk1	APN	9	49,327,068 (GRCm39)	missense	possibly damaging	0.89
IGL03289:Ankk1	APN	9	49,326,995 (GRCm39)	missense	probably benign	0.00
R0319:Ankk1	UTSW	9	49,327,371 (GRCm39)	missense	probably damaging	0.97
R0539:Ankk1	UTSW	9	49,329,330 (GRCm39)	missense	probably benign
R0827:Ankk1	UTSW	9	49,333,037 (GRCm39)	missense	possibly damaging	0.81
R1474:Ankk1	UTSW	9	49,327,139 (GRCm39)	missense	probably damaging	1.00
R1818:Ankk1	UTSW	9	49,331,725 (GRCm39)	missense	probably benign	0.06
R1851:Ankk1	UTSW	9	49,327,150 (GRCm39)	missense	probably benign
R2044:Ankk1	UTSW	9	49,330,664 (GRCm39)	critical splice donor site	probably null
R2088:Ankk1	UTSW	9	49,333,265 (GRCm39)	unclassified	probably benign
R2353:Ankk1	UTSW	9	49,329,990 (GRCm39)	missense	probably benign
R2897:Ankk1	UTSW	9	49,333,122 (GRCm39)	missense	probably benign	0.00
R2898:Ankk1	UTSW	9	49,333,122 (GRCm39)	missense	probably benign	0.00
R3121:Ankk1	UTSW	9	49,338,267 (GRCm39)	missense	probably benign	0.21
R3714:Ankk1	UTSW	9	49,333,013 (GRCm39)	missense	possibly damaging	0.92
R4455:Ankk1	UTSW	9	49,329,366 (GRCm39)	missense	probably benign	0.00
R4893:Ankk1	UTSW	9	49,326,983 (GRCm39)	missense	probably benign	0.00
R5090:Ankk1	UTSW	9	49,333,063 (GRCm39)	missense	probably damaging	0.98
R5521:Ankk1	UTSW	9	49,331,748 (GRCm39)	missense	probably benign	0.05
R5812:Ankk1	UTSW	9	49,338,153 (GRCm39)	missense	probably benign	0.00
R5853:Ankk1	UTSW	9	49,329,995 (GRCm39)	missense	possibly damaging	0.58
R5873:Ankk1	UTSW	9	49,327,196 (GRCm39)	missense	probably benign	0.19
R6119:Ankk1	UTSW	9	49,338,183 (GRCm39)	missense	possibly damaging	0.88
R6328:Ankk1	UTSW	9	49,327,371 (GRCm39)	missense	possibly damaging	0.84
R6606:Ankk1	UTSW	9	49,327,646 (GRCm39)	missense	probably benign	0.29
R6689:Ankk1	UTSW	9	49,331,776 (GRCm39)	missense	probably damaging	1.00
R6745:Ankk1	UTSW	9	49,327,480 (GRCm39)	missense	probably benign	0.00
R6856:Ankk1	UTSW	9	49,331,320 (GRCm39)	missense	probably benign	0.39
R7424:Ankk1	UTSW	9	49,330,050 (GRCm39)	missense	possibly damaging	0.93
R8145:Ankk1	UTSW	9	49,327,097 (GRCm39)	missense	possibly damaging	0.63
R8683:Ankk1	UTSW	9	49,329,292 (GRCm39)	missense
R9776:Ankk1	UTSW	9	49,330,714 (GRCm39)	missense	probably benign	0.25
Z1176:Ankk1	UTSW	9	49,333,211 (GRCm39)	missense	probably damaging	1.00
Z1176:Ankk1	UTSW	9	49,327,943 (GRCm39)	missense	probably benign	0.01
Z1177:Ankk1	UTSW	9	49,327,787 (GRCm39)	missense	probably damaging	0.97
Z1177:Ankk1	UTSW	9	49,327,244 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAGCAGCTTTAACTAGAACTTTG -3'
(R):5'- ATATGGAGCCAGCCTTGAGC -3'

Sequencing Primer
(F):5'- GCTTTAACTAGAACTTTGAGGATGGC -3'
(R):5'- GCCTTGAGCTACGCACAC -3'

Posted On

2015-11-11