Mutagenetix > Incidental Mutation

Incidental Mutation 'R9612:Ankar'

724265

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: 0.055) question?

Stock #

R9612 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72665135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 876 (D876V)

Ref Sequence

ENSEMBL: ENSMUSP00000054056 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053499
AA Change: D876V

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: D876V

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

possibly damaging
Transcript: ENSMUST00000211837
AA Change: D875V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212573
AA Change: D658V

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,927,387	M166K	probably benign	Het
2610021A01Rik	T	C	7: 41,626,903	S677P	possibly damaging	Het
4931406P16Rik	A	T	7: 34,248,231	C451S	probably damaging	Het
4932415D10Rik	T	A	10: 82,289,619	N2519I	possibly damaging	Het
5730480H06Rik	A	G	5: 48,374,530	I67V	probably benign	Het
Adam15	T	A	3: 89,341,940	Y736F	probably damaging	Het
Adam29	A	T	8: 55,872,083	F445L	possibly damaging	Het
Adgrv1	A	G	13: 81,492,963	Y3318H	probably damaging	Het
Akap6	A	G	12: 52,911,907	Y815C	probably damaging	Het
Atp6v1g2	G	A	17: 35,237,757	V106I	probably benign	Het
Bdp1	A	G	13: 100,077,862	S490P	probably benign	Het
Bet1	A	T	6: 4,077,918	V107D	probably damaging	Het
Bri3bp	T	C	5: 125,454,326	V112A	probably damaging	Het
Cage1	T	A	13: 38,032,375	D33V	probably damaging	Het
Ccdc146	G	T	5: 21,330,579	A159E	probably damaging	Het
Ccnl1	C	A	3: 65,957,983	G49V	probably damaging	Het
Cdk13	A	C	13: 17,751,855	F787V		Het
Cdk5r1	T	C	11: 80,477,654	V49A	probably benign	Het
Cdon	G	A	9: 35,486,905	V973I	probably damaging	Het
Chd1l	T	A	3: 97,581,147	K518*	probably null	Het
Col24a1	A	G	3: 145,545,205	D1653G	probably benign	Het
Cstf3	G	T	2: 104,653,025	V359F	possibly damaging	Het
Dchs2	T	C	3: 83,270,886	I1082T	probably damaging	Het
Dlec1	A	T	9: 119,127,465	I736F	probably damaging	Het
Dnah9	T	C	11: 65,927,649	N3288D	probably benign	Het
Ehbp1	T	C	11: 22,169,124	D182G	probably damaging	Het
Evc2	G	T	5: 37,386,786	E626D	probably benign	Het
Evi5	T	C	5: 107,795,712	E589G	probably benign	Het
Exoc4	T	C	6: 33,249,226	I25T	probably benign	Het
Extl2	T	A	3: 116,027,496	*331R	probably null	Het
Fkbp8	G	A	8: 70,531,674	R225H	probably damaging	Het
Foxred2	A	T	15: 77,952,006	S384T	probably damaging	Het
Glmn	T	C	5: 107,593,865	E18G	probably damaging	Het
Gm17018	G	T	19: 45,571,983	E82*	probably null	Het
Gm21936	A	G	12: 87,795,737	I76V	probably benign	Het
Gm7489	C	A	15: 53,885,972	Q147K	unknown	Het
Gm7489	A	C	15: 53,885,973	Q147P	unknown	Het
Gm8005	T	A	14: 42,438,398	I94F		Het
Golgb1	G	A	16: 36,919,605	V2810M	probably benign	Het
Gpr21	T	C	2: 37,518,387	L315P	probably damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Herc6	T	G	6: 57,652,032	S643A	probably benign	Het
Igkv14-100	T	A	6: 68,519,333	I70N	probably damaging	Het
Kcnn3	A	G	3: 89,609,396	M371V	probably benign	Het
Kif1a	T	A	1: 93,025,694	H1256L	probably damaging	Het
Klhdc4	A	G	8: 121,801,178	S266P	possibly damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Lefty2	T	A	1: 180,894,721	L208Q	probably damaging	Het
Lingo2	T	C	4: 35,708,450	Y510C	probably damaging	Het
Lrif1	T	A	3: 106,731,884	V70D	probably damaging	Het
Lrrc74a	A	T	12: 86,758,571	K389I	possibly damaging	Het
Megf8	A	T	7: 25,355,063	E1868V	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mmp8	A	G	9: 7,560,607	D95G	probably damaging	Het
Mmrn1	T	A	6: 60,976,424	I563N	probably damaging	Het
Mroh3	T	C	1: 136,190,975	T535A	probably benign	Het
Mroh9	A	G	1: 163,038,929	L715P	probably damaging	Het
Myh6	G	T	14: 54,963,597	A136E	probably benign	Het
Myom1	G	T	17: 71,105,480	E1231*	probably null	Het
Nod2	G	T	8: 88,670,473	C837F	probably benign	Het
Nos2	T	A	11: 78,949,158	W698R	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Oas1a	A	T	5: 120,901,965	S188T	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1440	A	T	19: 12,394,619	M119L	probably damaging	Het
Olfr396-ps1	T	A	11: 73,928,549	D108E	possibly damaging	Het
Olfr490	A	G	7: 108,286,280	M282T	probably benign	Het
Olfr836	T	A	9: 19,121,464	S167T	probably benign	Het
Olfr847	A	G	9: 19,375,381	S167P	possibly damaging	Het
Opa1	T	C	16: 29,611,437	M394T		Het
Oxct2a	T	A	4: 123,323,336	D84V	probably damaging	Het
Oxct2b	A	C	4: 123,117,226	D313A	probably damaging	Het
Phldb3	G	A	7: 24,628,947	V639M	probably damaging	Het
Plppr4	T	A	3: 117,321,961	N749I	probably benign	Het
Pmp22	G	T	11: 63,133,239	V25F	probably benign	Het
Pofut2	A	T	10: 77,265,929	M267L	probably benign	Het
Ppp1r42	T	A	1: 9,968,842	N351I	possibly damaging	Het
Prl2b1	T	C	13: 27,388,496	E37G	probably benign	Het
Ptpro	G	T	6: 137,414,320	V813F	probably benign	Het
Rnaseh2c	T	C	19: 5,602,315	F99L	probably benign	Het
Scn9a	T	A	2: 66,533,364	I857F	probably damaging	Het
Slf1	A	G	13: 77,049,085		probably null	Het
Smyd2	T	C	1: 189,880,786	*434W	probably null	Het
Stk40	A	G	4: 126,136,857	D290G	probably damaging	Het
Tdo2	C	A	3: 81,971,694	W82C	probably damaging	Het
Tmem101	A	G	11: 102,153,368	V231A	probably damaging	Het
Tns2	G	A	15: 102,107,142	E160K	probably damaging	Het
Trim31	A	T	17: 36,901,659	D174V	probably benign	Het
Unc13d	A	T	11: 116,070,318	Y404*	probably null	Het
Ush2a	C	A	1: 188,359,866	Y531*	probably null	Het
Vapa	G	A	17: 65,582,741	P144S	probably benign	Het
Vmn1r212	C	T	13: 22,883,273	V297M	possibly damaging	Het
Vmn2r80	A	C	10: 79,194,878	N846T	probably damaging	Het
Zfp811	A	G	17: 32,798,766	V100A	probably benign	Het
Zfp958	T	A	8: 4,628,298	C108S	probably damaging	Het
Zic5	G	A	14: 122,459,688	T505I	unknown	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
R7099:Ankar	UTSW	1	72643293	missense	probably damaging	0.99
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
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'- GAGTCAGTTATTTCTCTGAACCTTG -3'
(R):5'- ATGTAGTACCCTTAGGCTGTTAC -3'

Sequencing Primer
(F):5'- GTCCGTGGACAAATTCAG -3'
(R):5'- CCAGGTAAGAATCACTCAGTTGTC -3'

Posted On

2022-09-12