Mutagenetix > Incidental Mutation

Incidental Mutation 'R8119:Ankar'

631375

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: 0.058) question?

Stock #

R8119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72647001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1347 (S1347T)

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: S1347T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: S1347T

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: S1346T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212573
AA Change: S1129T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	G	A	8: 36,498,422	W32*	probably null	Het
Abca6	T	C	11: 110,197,104	I1066V	probably benign	Het
Abcd2	T	C	15: 91,148,994	T740A	probably benign	Het
Amigo1	T	C	3: 108,187,536	L117P	probably damaging	Het
Apol7e	T	C	15: 77,717,756	S185P	probably damaging	Het
Ash1l	G	A	3: 89,035,427	C2088Y	probably damaging	Het
Atrnl1	A	G	19: 57,642,463	T221A	probably benign	Het
Caln1	A	G	5: 130,822,984	S205G	probably damaging	Het
Cfap54	T	C	10: 92,868,810	I2803V	unknown	Het
Cfh	A	C	1: 140,120,015	F477V	possibly damaging	Het
Cldn23	A	G	8: 35,825,902	V144A	probably damaging	Het
Csmd1	A	G	8: 17,027,294	S116P	probably damaging	Het
Dgkd	A	T	1: 87,917,967	T299S	possibly damaging	Het
Fam20b	T	G	1: 156,690,502	T241P	probably damaging	Het
Fndc3b	A	T	3: 27,451,344	M925K	probably benign	Het
Gm813	C	A	16: 58,616,848	M32I	probably benign	Het
Ints3	C	T	3: 90,392,300	R987Q	probably damaging	Het
Kctd10	A	G	5: 114,367,255	V226A	probably damaging	Het
Lypd2	A	G	15: 74,733,032	V38A	probably benign	Het
Map3k1	T	C	13: 111,772,622	R265G	possibly damaging	Het
Mcc	C	T	18: 44,468,433	V610M	possibly damaging	Het
Mocs1	C	T	17: 49,449,519	R244C	probably damaging	Het
Nav2	A	G	7: 49,453,484	T677A	probably damaging	Het
Ngp	A	G	9: 110,422,353	N150D	probably benign	Het
Nipbl	C	T	15: 8,359,212	R308Q	probably benign	Het
Nsrp1	A	G	11: 77,048,351		probably null	Het
Olfr1317	T	A	2: 112,142,563	I206N	probably damaging	Het
Olfr1388	A	T	11: 49,444,126	I92F	probably damaging	Het
Olfr659	A	T	7: 104,670,854	I51F	probably damaging	Het
Pbld2	A	T	10: 63,053,877	D146V	probably benign	Het
Prss22	T	A	17: 23,994,727	K197*	probably null	Het
Ptprd	G	T	4: 76,129,026	S87R	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Slc25a35	T	C	11: 68,971,972	L251S	probably benign	Het
Slx4	A	T	16: 3,985,272	L1226*	probably null	Het
Smarca4	T	C	9: 21,647,626	V651A	possibly damaging	Het
Smarcad1	T	C	6: 65,094,319	F583L	probably benign	Het
Taf2	T	C	15: 55,031,130	K932E	probably benign	Het
Trav8d-1	A	T	14: 52,778,968	T104S	probably benign	Het
Trpm4	A	T	7: 45,327,128	V155D	probably damaging	Het
Ttc6	A	T	12: 57,705,643	Y1445F	possibly damaging	Het
Ttll5	C	A	12: 86,020,548	N1270K	probably damaging	Het
Usp40	G	T	1: 87,967,678		probably null	Het
Vmn2r74	T	C	7: 85,961,482	M1V	probably null	Het
Wwox	T	C	8: 114,706,368	V258A	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp770	G	A	2: 114,197,027	T187I	probably damaging	Het
Zranb2	A	G	3: 157,536,332		probably null	Het
Zscan4-ps3	A	G	7: 11,610,340	Q75R	probably 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
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
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'- ACATGGTGGATCCCTAAAATCTAAG -3'
(R):5'- AGCATGTTCCTGTGCCCTTG -3'

Sequencing Primer
(F):5'- AATGATGTCACTTCTGAAACTTCTC -3'
(R):5'- GGCTACCTCACTTACAATGCACATG -3'

Posted On

2020-06-30