Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Ankar'

471735

Institutional Source

Beutler Lab

Gene Symbol

Ankar

Ensembl Gene

ENSMUSG00000039342

Gene Name

ankyrin and armadillo repeat containing

Synonyms

4932422E22Rik

MMRRC Submission

044158-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72642980-72700579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72643291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1154 (T1154A)

Ref Sequence

ENSEMBL: ENSMUSP00000148640 (fasta)

Gene Model

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

AlphaFold

A2RT91

Predicted Effect

probably benign
Transcript: ENSMUST00000053499
AA Change: T1372A

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

SMART Domains

Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: T1372A

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 benign
Transcript: ENSMUST00000211837
AA Change: T1371A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212057

Predicted Effect

probably benign
Transcript: ENSMUST00000212573
AA Change: T1154A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,284,129	A1697T	probably benign	Het
Ankrd26	A	T	6: 118,517,894		probably null	Het
Arih2	A	T	9: 108,607,973	*54R	probably null	Het
AW146154	T	G	7: 41,480,297	K465T	probably damaging	Het
Bend3	A	G	10: 43,510,544	Y311C	probably benign	Het
Ccdc110	A	T	8: 45,943,499	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,190,863	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,064,115	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,746,875	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,946,556	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526		probably benign	Het
Dclk2	C	A	3: 86,787,225	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,501,489	G318W	probably damaging	Het
Edem1	T	A	6: 108,842,962	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,784,822	F75L	probably damaging	Het
Elmo3	A	G	8: 105,307,647	Y266C	probably damaging	Het
Enpep	A	G	3: 129,299,124	S509P	probably damaging	Het
Exoc8	A	G	8: 124,896,653	M325T	probably benign	Het
Fah	A	G	7: 84,594,741	M270T	probably benign	Het
Gabbr1	T	C	17: 37,067,862	L532P	probably damaging	Het
Gm10770	T	A	2: 150,179,400	K66*	probably null	Het
Gprc5c	A	T	11: 114,864,487	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602	H377L	probably damaging	Het
Hipk3	T	C	2: 104,471,184	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,991,439	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,538,759	E29D	probably benign	Het
Ing3	T	A	6: 21,971,174	S326T	probably benign	Het
Ipo7	T	C	7: 110,048,807	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,403,788		probably null	Het
Kif21a	T	G	15: 90,935,812	D1583A	probably damaging	Het
Lama2	C	T	10: 27,190,676	V1070I	probably benign	Het
Lrp1	A	T	10: 127,583,901	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,499,071	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,290,083	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,709,952	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,866,522	A216D	probably damaging	Het
Nbea	T	C	3: 55,853,847	T2025A	probably benign	Het
Neb	A	G	2: 52,216,916	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,421,549	F599I	probably damaging	Het
Nsun2	T	G	13: 69,623,152		probably null	Het
Olfr479	T	A	7: 108,055,798	M272K	possibly damaging	Het
Olfr884	G	T	9: 38,047,701	V160F	possibly damaging	Het
Otoa	T	A	7: 121,127,713	W524R	probably benign	Het
Paip1	T	A	13: 119,456,997	D182E	probably damaging	Het
Pde1a	G	A	2: 79,868,242	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,708,079	K72*	probably null	Het
Pigg	A	G	5: 108,332,191	E444G	probably null	Het
Plec	T	C	15: 76,189,037	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,756,036	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,563,350	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,002,093	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,140,307	S718R	probably benign	Het
Recql4	C	A	15: 76,709,424	R162L	probably benign	Het
Rest	T	C	5: 77,268,272	L111P	probably benign	Het
Rgma	T	C	7: 73,409,468	S13P	probably damaging	Het
Rogdi	T	A	16: 5,013,311	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,255,129	D179E	probably benign	Het
Slc1a5	T	C	7: 16,795,882	C409R	probably damaging	Het
Slc25a38	A	G	9: 120,116,547	T38A	probably damaging	Het
Spag17	C	T	3: 100,095,791	Q1897*	probably null	Het
St7	C	A	6: 17,694,222	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,439,203	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,476,672	V103A	probably benign	Het
Tnc	G	A	4: 64,018,166	P178S	probably benign	Het
Vwf	A	G	6: 125,603,463	D558G		Het
Zfp541	A	G	7: 16,076,419	K127R	probably benign	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
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
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'- GCCAATGACAGTGTATGTTGTC -3'

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

Posted On

2017-03-31