Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Ankar'

550678

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72643293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1371 (K1371R)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053499] [ENSMUST00000211837] [ENSMUST00000212573]

AlphaFold

A2RT91

Predicted Effect

probably damaging
Transcript: ENSMUST00000053499
AA Change: K1371R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: K1371R

Domain	Start	End	E-Value	Type
low complexity region	46	51	N/A	INTRINSIC
low complexity region	484	496	N/A	INTRINSIC
ANK	532	561	1.25e2	SMART
ANK	582	611	3.49e0	SMART
ANK	615	644	4.44e2	SMART
ANK	651	680	3.8e-1	SMART
ANK	684	714	9.87e0	SMART
ARM	744	784	5.96e-3	SMART
ARM	785	825	4.09e0	SMART
Blast:ARM	827	865	1e-15	BLAST
ARM	867	907	8.34e0	SMART
ARM	909	949	8.34e0	SMART
Blast:ARM	951	991	2e-13	BLAST
ARM	1034	1077	4.82e1	SMART
ARM	1084	1123	1.3e1	SMART
ARM	1257	1297	6.01e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000211837
AA Change: K1370R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212573
AA Change: K1153R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,770,788	A26T	probably benign	Het
Acly	T	C	11: 100,492,291		probably null	Het
Adam29	A	C	8: 55,871,404	L672V	probably benign	Het
Adgrf1	T	C	17: 43,310,602	S577P	probably benign	Het
Arid5b	T	C	10: 68,098,179	D631G	probably damaging	Het
Brpf3	T	C	17: 28,806,637	V228A	probably benign	Het
C3	T	C	17: 57,206,276	D1457G	probably benign	Het
Calr4	A	T	4: 109,242,229	N143I	probably benign	Het
Catsperd	T	G	17: 56,628,811		probably null	Het
Cobl	T	A	11: 12,296,540	H154L		Het
Cryzl2	G	A	1: 157,488,584		probably benign	Het
Dennd1c	A	G	17: 57,067,915		probably null	Het
Dnah8	A	T	17: 30,704,724	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,866,768	S218P	probably benign	Het
Fbxw27	G	T	9: 109,770,155	T398N	probably damaging	Het
Fhod3	A	G	18: 25,090,162	D855G	probably benign	Het
Flii	A	G	11: 60,720,655	V410A	probably benign	Het
Fsip2	C	A	2: 82,987,624	P4567Q	probably benign	Het
Fxyd1	T	G	7: 31,053,033	Q66H	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gramd3	C	T	18: 56,491,945	T370I	probably benign	Het
Kdr	A	G	5: 75,944,333	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,830,546	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,173,108	R92G	probably benign	Het
Map1a	T	A	2: 121,300,517	S605T	probably benign	Het
Megf8	A	T	7: 25,346,520	D1496V	probably damaging	Het
Mgam	T	C	6: 40,661,716	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Nav3	T	C	10: 109,703,334	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,645,438		probably null	Het
Ndst1	A	G	18: 60,695,500	F661L	possibly damaging	Het
Neu3	G	A	7: 99,813,820	T232M	possibly damaging	Het
Nf1	T	C	11: 79,570,330	S741P	probably benign	Het
Nr5a1	G	T	2: 38,694,136	L424M	probably damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr1301	A	T	2: 111,755,076	T276S	probably benign	Het
Olfr1426	A	G	19: 12,088,166	F209L	possibly damaging	Het
Olfr212	T	A	6: 116,516,760	*328R	probably null	Het
Olfr952	G	A	9: 39,426,303	T256I	probably benign	Het
Otud7a	A	G	7: 63,757,455	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,746	L237S	probably damaging	Het
Pias1	A	G	9: 62,881,145	M79T		Het
Prom2	T	C	2: 127,539,778	E206G	probably benign	Het
Scarb1	A	T	5: 125,304,350	N43K	probably damaging	Het
Sdad1	A	G	5: 92,293,973	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,834,905	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,243,497	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,629,573	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750	H53Q	probably damaging	Het
Spata22	T	C	11: 73,340,399	F160L	probably benign	Het
Stag1	G	A	9: 100,944,826	V949I	probably benign	Het
Syne1	T	C	10: 5,123,744	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,254,891	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,630,341	M226I	probably benign	Het
Tep1	T	C	14: 50,844,487		probably null	Het
Tigd2	C	A	6: 59,210,181	T11K	probably damaging	Het
Trappc9	A	G	15: 72,693,619	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,240,989	M455T	probably benign	Het
Usp42	A	T	5: 143,726,645	S95T	probably damaging	Het
Usp44	T	C	10: 93,850,187	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,756,393	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,672,541	I616N	probably damaging	Het
Zfp352	A	G	4: 90,224,880	K419R	probably benign	Het
Zfp595	T	A	13: 67,317,647	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,772,161	S301T	probably benign	Het
Zzef1	T	C	11: 72,872,649	V1374A	possibly damaging	Het

Other mutations in Ankar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ankar	APN	1	72690131	missense	probably damaging	1.00
IGL01013:Ankar	APN	1	72650989	missense	possibly damaging	0.90
IGL01135:Ankar	APN	1	72665219	missense	probably benign	0.28
IGL01824:Ankar	APN	1	72651727	missense	probably benign	0.40
IGL01885:Ankar	APN	1	72658703	missense	probably damaging	1.00
IGL01932:Ankar	APN	1	72698987	missense	probably benign	0.25
IGL02143:Ankar	APN	1	72658649	critical splice donor site	probably null
IGL02326:Ankar	APN	1	72666355	missense	probably damaging	1.00
IGL02445:Ankar	APN	1	72666365	missense	probably benign	0.05
IGL02606:Ankar	APN	1	72690285	missense	possibly damaging	0.61
IGL02635:Ankar	APN	1	72652431	missense	possibly damaging	0.93
IGL02680:Ankar	APN	1	72670116	missense	probably damaging	1.00
IGL02704:Ankar	APN	1	72652343	missense	possibly damaging	0.88
IGL03086:Ankar	APN	1	72643278	missense	possibly damaging	0.84
IGL03269:Ankar	APN	1	72665201	missense	probably damaging	0.99
IGL03368:Ankar	APN	1	72675813	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72656164	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72656164	missense	probably damaging	1.00
R0488:Ankar	UTSW	1	72658732	missense	probably damaging	1.00
R0650:Ankar	UTSW	1	72656221	splice site	probably benign
R1121:Ankar	UTSW	1	72651663	splice site	probably null
R1163:Ankar	UTSW	1	72688705	missense	possibly damaging	0.82
R1300:Ankar	UTSW	1	72643164	missense	probably benign	0.00
R1309:Ankar	UTSW	1	72674004	missense	possibly damaging	0.59
R1366:Ankar	UTSW	1	72698649	missense	probably damaging	1.00
R1456:Ankar	UTSW	1	72665118	missense	probably benign	0.34
R1495:Ankar	UTSW	1	72643291	missense	probably benign
R1583:Ankar	UTSW	1	72679555	splice site	probably benign
R1635:Ankar	UTSW	1	72650138	missense	probably damaging	0.99
R1975:Ankar	UTSW	1	72658441	missense	possibly damaging	0.95
R2036:Ankar	UTSW	1	72666530	nonsense	probably null
R2511:Ankar	UTSW	1	72658694	missense	probably damaging	1.00
R2965:Ankar	UTSW	1	72675820	missense	probably benign	0.00
R3404:Ankar	UTSW	1	72643093	nonsense	probably null
R3417:Ankar	UTSW	1	72658976	critical splice donor site	probably null
R4072:Ankar	UTSW	1	72688592	missense	probably damaging	1.00
R4231:Ankar	UTSW	1	72658542	missense	probably benign	0.23
R4447:Ankar	UTSW	1	72687789	missense	possibly damaging	0.60
R4632:Ankar	UTSW	1	72647184	missense	probably benign	0.01
R4720:Ankar	UTSW	1	72699011	missense	possibly damaging	0.55
R4754:Ankar	UTSW	1	72698694	missense	probably damaging	1.00
R4884:Ankar	UTSW	1	72698807	missense	probably damaging	0.97
R5068:Ankar	UTSW	1	72680210	splice site	probably null
R5069:Ankar	UTSW	1	72680210	splice site	probably null
R5070:Ankar	UTSW	1	72680210	splice site	probably null
R5189:Ankar	UTSW	1	72658414	missense	probably benign	0.01
R5247:Ankar	UTSW	1	72680184	missense	probably benign	0.08
R5322:Ankar	UTSW	1	72690386	splice site	probably null
R5345:Ankar	UTSW	1	72670151	missense	possibly damaging	0.94
R5864:Ankar	UTSW	1	72659165	missense	probably benign	0.00
R5976:Ankar	UTSW	1	72643291	missense	probably benign
R6003:Ankar	UTSW	1	72698887	missense	probably damaging	1.00
R6042:Ankar	UTSW	1	72674054	nonsense	probably null
R6296:Ankar	UTSW	1	72643258	missense	probably damaging	1.00
R6488:Ankar	UTSW	1	72681808	critical splice donor site	probably null
R6885:Ankar	UTSW	1	72643036	missense	unknown
R6985:Ankar	UTSW	1	72658482	missense	probably damaging	1.00
R7060:Ankar	UTSW	1	72656113	missense	probably benign	0.18
R7194:Ankar	UTSW	1	72659033	missense	probably benign	0.32
R7221:Ankar	UTSW	1	72650231	missense	probably damaging	1.00
R7222:Ankar	UTSW	1	72666355	missense	probably damaging	0.99
R7258:Ankar	UTSW	1	72651727	missense	probably benign	0.40
R7303:Ankar	UTSW	1	72659033	missense	probably benign	0.32
R7308:Ankar	UTSW	1	72651794	nonsense	probably null
R7384:Ankar	UTSW	1	72658465	missense	probably benign	0.00
R7424:Ankar	UTSW	1	72680058	missense	probably damaging	1.00
R7464:Ankar	UTSW	1	72698894	missense	possibly damaging	0.94
R7525:Ankar	UTSW	1	72688641	missense	probably benign	0.18
R7618:Ankar	UTSW	1	72675766	missense	probably benign	0.22
R7659:Ankar	UTSW	1	72690135	missense	possibly damaging	0.95
R7974:Ankar	UTSW	1	72698979	nonsense	probably null
R8008:Ankar	UTSW	1	72666484	missense	possibly damaging	0.47
R8119:Ankar	UTSW	1	72647001	missense	probably damaging	0.98
R8244:Ankar	UTSW	1	72651024	missense	probably benign
R8342:Ankar	UTSW	1	72652460	missense	probably damaging	1.00
R8494:Ankar	UTSW	1	72658794	missense	probably benign	0.16
R8851:Ankar	UTSW	1	72652376	missense	probably damaging	1.00
R8970:Ankar	UTSW	1	72652337	critical splice donor site	probably null
R9228:Ankar	UTSW	1	72674051	missense	probably benign	0.27
R9511:Ankar	UTSW	1	72680002	missense	probably benign	0.23
R9577:Ankar	UTSW	1	72681908	missense	probably benign	0.02
R9612:Ankar	UTSW	1	72665135	missense	possibly damaging	0.65
R9647:Ankar	UTSW	1	72650148	missense	probably damaging	1.00
R9803:Ankar	UTSW	1	72659181	missense	possibly damaging	0.47
Z1176:Ankar	UTSW	1	72689961	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAAATGCTGGAGGGTCTGGG -3'
(R):5'- GCCAATGACAGTGTATGTTGTCC -3'

Sequencing Primer
(F):5'- CTTTCCCAAGTTTGTTCAAAAATGC -3'
(R):5'- CTGATCCTTTTTAGAAGACCCGAG -3'

Posted On

2019-05-15