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: 0.057) question?

Stock #

R9612 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72682139-72739738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72704294 bp (GRCm39)

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
2610021A01Rik	T	C	7: 41,276,327 (GRCm39)	S677P	possibly damaging	Het
5730480H06Rik	A	G	5: 48,531,872 (GRCm39)	I67V	probably benign	Het
Adam15	T	A	3: 89,249,247 (GRCm39)	Y736F	probably damaging	Het
Adam29	A	T	8: 56,325,118 (GRCm39)	F445L	possibly damaging	Het
Adgrv1	A	G	13: 81,641,082 (GRCm39)	Y3318H	probably damaging	Het
Akap6	A	G	12: 52,958,690 (GRCm39)	Y815C	probably damaging	Het
Atp6v1g2	G	A	17: 35,456,733 (GRCm39)	V106I	probably benign	Het
Bdp1	A	G	13: 100,214,370 (GRCm39)	S490P	probably benign	Het
Bet1	A	T	6: 4,077,918 (GRCm39)	V107D	probably damaging	Het
Bri3bp	T	C	5: 125,531,390 (GRCm39)	V112A	probably damaging	Het
Cage1	T	A	13: 38,216,351 (GRCm39)	D33V	probably damaging	Het
Ccdc146	G	T	5: 21,535,577 (GRCm39)	A159E	probably damaging	Het
Ccnl1	C	A	3: 65,865,404 (GRCm39)	G49V	probably damaging	Het
Cdk13	A	C	13: 17,926,440 (GRCm39)	F787V		Het
Cdk5r1	T	C	11: 80,368,480 (GRCm39)	V49A	probably benign	Het
Cdon	G	A	9: 35,398,201 (GRCm39)	V973I	probably damaging	Het
Cfap298	A	T	16: 90,724,275 (GRCm39)	M166K	probably benign	Het
Chd1l	T	A	3: 97,488,463 (GRCm39)	K518*	probably null	Het
Col24a1	A	G	3: 145,250,960 (GRCm39)	D1653G	probably benign	Het
Cstf3	G	T	2: 104,483,370 (GRCm39)	V359F	possibly damaging	Het
Dchs2	T	C	3: 83,178,193 (GRCm39)	I1082T	probably damaging	Het
Dlec1	A	T	9: 118,956,533 (GRCm39)	I736F	probably damaging	Het
Dnah9	T	C	11: 65,818,475 (GRCm39)	N3288D	probably benign	Het
Dpcd	G	T	19: 45,560,422 (GRCm39)	E82*	probably null	Het
Ehbp1	T	C	11: 22,119,124 (GRCm39)	D182G	probably damaging	Het
Eif1ad13	A	G	12: 87,762,507 (GRCm39)	I76V	probably benign	Het
Evc2	G	T	5: 37,544,130 (GRCm39)	E626D	probably benign	Het
Evi5	T	C	5: 107,943,578 (GRCm39)	E589G	probably benign	Het
Exoc4	T	C	6: 33,226,161 (GRCm39)	I25T	probably benign	Het
Extl2	T	A	3: 115,821,145 (GRCm39)	*331R	probably null	Het
Fkbp8	G	A	8: 70,984,324 (GRCm39)	R225H	probably damaging	Het
Foxred2	A	T	15: 77,836,206 (GRCm39)	S384T	probably damaging	Het
Garre1	A	T	7: 33,947,656 (GRCm39)	C451S	probably damaging	Het
Glmn	T	C	5: 107,741,731 (GRCm39)	E18G	probably damaging	Het
Gm7489	A	C	15: 53,749,369 (GRCm39)	Q147P	unknown	Het
Gm7489	C	A	15: 53,749,368 (GRCm39)	Q147K	unknown	Het
Gm8005	T	A	14: 42,260,355 (GRCm39)	I94F		Het
Golgb1	G	A	16: 36,739,967 (GRCm39)	V2810M	probably benign	Het
Gpr21	T	C	2: 37,408,399 (GRCm39)	L315P	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc6	T	G	6: 57,629,017 (GRCm39)	S643A	probably benign	Het
Igkv14-100	T	A	6: 68,496,317 (GRCm39)	I70N	probably damaging	Het
Kcnn3	A	G	3: 89,516,703 (GRCm39)	M371V	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Klhdc4	A	G	8: 122,527,917 (GRCm39)	S266P	possibly damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Lefty2	T	A	1: 180,722,286 (GRCm39)	L208Q	probably damaging	Het
Lingo2	T	C	4: 35,708,450 (GRCm39)	Y510C	probably damaging	Het
Lrif1	T	A	3: 106,639,200 (GRCm39)	V70D	probably damaging	Het
Lrrc74a	A	T	12: 86,805,345 (GRCm39)	K389I	possibly damaging	Het
Megf8	A	T	7: 25,054,488 (GRCm39)	E1868V	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mmp8	A	G	9: 7,560,608 (GRCm39)	D95G	probably damaging	Het
Mmrn1	T	A	6: 60,953,408 (GRCm39)	I563N	probably damaging	Het
Mroh3	T	C	1: 136,118,713 (GRCm39)	T535A	probably benign	Het
Mroh9	A	G	1: 162,866,498 (GRCm39)	L715P	probably damaging	Het
Myh6	G	T	14: 55,201,054 (GRCm39)	A136E	probably benign	Het
Myom1	G	T	17: 71,412,475 (GRCm39)	E1231*	probably null	Het
Nod2	G	T	8: 89,397,101 (GRCm39)	C837F	probably benign	Het
Nos2	T	A	11: 78,839,984 (GRCm39)	W698R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oas1a	A	T	5: 121,040,028 (GRCm39)	S188T	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Opa1	T	C	16: 29,430,255 (GRCm39)	M394T		Het
Or1e1d-ps1	T	A	11: 73,819,375 (GRCm39)	D108E	possibly damaging	Het
Or5an6	A	T	19: 12,371,983 (GRCm39)	M119L	probably damaging	Het
Or5p66	A	G	7: 107,885,487 (GRCm39)	M282T	probably benign	Het
Or7g21	T	A	9: 19,032,760 (GRCm39)	S167T	probably benign	Het
Or7g29	A	G	9: 19,286,677 (GRCm39)	S167P	possibly damaging	Het
Oxct2a	T	A	4: 123,217,129 (GRCm39)	D84V	probably damaging	Het
Oxct2b	A	C	4: 123,011,019 (GRCm39)	D313A	probably damaging	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Plppr4	T	A	3: 117,115,610 (GRCm39)	N749I	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pofut2	A	T	10: 77,101,763 (GRCm39)	M267L	probably benign	Het
Ppp1r42	T	A	1: 10,039,067 (GRCm39)	N351I	possibly damaging	Het
Prl2b1	T	C	13: 27,572,479 (GRCm39)	E37G	probably benign	Het
Ptpro	G	T	6: 137,391,318 (GRCm39)	V813F	probably benign	Het
Rnaseh2c	T	C	19: 5,652,343 (GRCm39)	F99L	probably benign	Het
Scn9a	T	A	2: 66,363,708 (GRCm39)	I857F	probably damaging	Het
Slf1	A	G	13: 77,197,204 (GRCm39)		probably null	Het
Smyd2	T	C	1: 189,612,983 (GRCm39)	*434W	probably null	Het
Spata31h1	T	A	10: 82,125,453 (GRCm39)	N2519I	possibly damaging	Het
Stk40	A	G	4: 126,030,650 (GRCm39)	D290G	probably damaging	Het
Tdo2	C	A	3: 81,879,001 (GRCm39)	W82C	probably damaging	Het
Tmem101	A	G	11: 102,044,194 (GRCm39)	V231A	probably damaging	Het
Tns2	G	A	15: 102,015,577 (GRCm39)	E160K	probably damaging	Het
Trim31	A	T	17: 37,212,551 (GRCm39)	D174V	probably benign	Het
Unc13d	A	T	11: 115,961,144 (GRCm39)	Y404*	probably null	Het
Ush2a	C	A	1: 188,092,063 (GRCm39)	Y531*	probably null	Het
Vapa	G	A	17: 65,889,736 (GRCm39)	P144S	probably benign	Het
Vmn1r212	C	T	13: 23,067,443 (GRCm39)	V297M	possibly damaging	Het
Vmn2r80	A	C	10: 79,030,712 (GRCm39)	N846T	probably damaging	Het
Zfp811	A	G	17: 33,017,740 (GRCm39)	V100A	probably benign	Het
Zfp958	T	A	8: 4,678,298 (GRCm39)	C108S	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	Het

Other mutations in Ankar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ankar	APN	1	72,729,290 (GRCm39)	missense	probably damaging	1.00
IGL01013:Ankar	APN	1	72,690,148 (GRCm39)	missense	possibly damaging	0.90
IGL01135:Ankar	APN	1	72,704,378 (GRCm39)	missense	probably benign	0.28
IGL01824:Ankar	APN	1	72,690,886 (GRCm39)	missense	probably benign	0.40
IGL01885:Ankar	APN	1	72,697,862 (GRCm39)	missense	probably damaging	1.00
IGL01932:Ankar	APN	1	72,738,146 (GRCm39)	missense	probably benign	0.25
IGL02143:Ankar	APN	1	72,697,808 (GRCm39)	critical splice donor site	probably null
IGL02326:Ankar	APN	1	72,705,514 (GRCm39)	missense	probably damaging	1.00
IGL02445:Ankar	APN	1	72,705,524 (GRCm39)	missense	probably benign	0.05
IGL02606:Ankar	APN	1	72,729,444 (GRCm39)	missense	possibly damaging	0.61
IGL02635:Ankar	APN	1	72,691,590 (GRCm39)	missense	possibly damaging	0.93
IGL02680:Ankar	APN	1	72,709,275 (GRCm39)	missense	probably damaging	1.00
IGL02704:Ankar	APN	1	72,691,502 (GRCm39)	missense	possibly damaging	0.88
IGL03086:Ankar	APN	1	72,682,437 (GRCm39)	missense	possibly damaging	0.84
IGL03269:Ankar	APN	1	72,704,360 (GRCm39)	missense	probably damaging	0.99
IGL03368:Ankar	APN	1	72,714,972 (GRCm39)	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72,695,323 (GRCm39)	missense	probably damaging	1.00
R0050:Ankar	UTSW	1	72,695,323 (GRCm39)	missense	probably damaging	1.00
R0488:Ankar	UTSW	1	72,697,891 (GRCm39)	missense	probably damaging	1.00
R0650:Ankar	UTSW	1	72,695,380 (GRCm39)	splice site	probably benign
R1121:Ankar	UTSW	1	72,690,822 (GRCm39)	splice site	probably null
R1163:Ankar	UTSW	1	72,727,864 (GRCm39)	missense	possibly damaging	0.82
R1300:Ankar	UTSW	1	72,682,323 (GRCm39)	missense	probably benign	0.00
R1309:Ankar	UTSW	1	72,713,163 (GRCm39)	missense	possibly damaging	0.59
R1366:Ankar	UTSW	1	72,737,808 (GRCm39)	missense	probably damaging	1.00
R1456:Ankar	UTSW	1	72,704,277 (GRCm39)	missense	probably benign	0.34
R1495:Ankar	UTSW	1	72,682,450 (GRCm39)	missense	probably benign
R1583:Ankar	UTSW	1	72,718,714 (GRCm39)	splice site	probably benign
R1635:Ankar	UTSW	1	72,689,297 (GRCm39)	missense	probably damaging	0.99
R1975:Ankar	UTSW	1	72,697,600 (GRCm39)	missense	possibly damaging	0.95
R2036:Ankar	UTSW	1	72,705,689 (GRCm39)	nonsense	probably null
R2511:Ankar	UTSW	1	72,697,853 (GRCm39)	missense	probably damaging	1.00
R2965:Ankar	UTSW	1	72,714,979 (GRCm39)	missense	probably benign	0.00
R3404:Ankar	UTSW	1	72,682,252 (GRCm39)	nonsense	probably null
R3417:Ankar	UTSW	1	72,698,135 (GRCm39)	critical splice donor site	probably null
R4072:Ankar	UTSW	1	72,727,751 (GRCm39)	missense	probably damaging	1.00
R4231:Ankar	UTSW	1	72,697,701 (GRCm39)	missense	probably benign	0.23
R4447:Ankar	UTSW	1	72,726,948 (GRCm39)	missense	possibly damaging	0.60
R4632:Ankar	UTSW	1	72,686,343 (GRCm39)	missense	probably benign	0.01
R4720:Ankar	UTSW	1	72,738,170 (GRCm39)	missense	possibly damaging	0.55
R4754:Ankar	UTSW	1	72,737,853 (GRCm39)	missense	probably damaging	1.00
R4884:Ankar	UTSW	1	72,737,966 (GRCm39)	missense	probably damaging	0.97
R5068:Ankar	UTSW	1	72,719,369 (GRCm39)	splice site	probably null
R5069:Ankar	UTSW	1	72,719,369 (GRCm39)	splice site	probably null
R5070:Ankar	UTSW	1	72,719,369 (GRCm39)	splice site	probably null
R5189:Ankar	UTSW	1	72,697,573 (GRCm39)	missense	probably benign	0.01
R5247:Ankar	UTSW	1	72,719,343 (GRCm39)	missense	probably benign	0.08
R5322:Ankar	UTSW	1	72,729,545 (GRCm39)	splice site	probably null
R5345:Ankar	UTSW	1	72,709,310 (GRCm39)	missense	possibly damaging	0.94
R5864:Ankar	UTSW	1	72,698,324 (GRCm39)	missense	probably benign	0.00
R5976:Ankar	UTSW	1	72,682,450 (GRCm39)	missense	probably benign
R6003:Ankar	UTSW	1	72,738,046 (GRCm39)	missense	probably damaging	1.00
R6042:Ankar	UTSW	1	72,713,213 (GRCm39)	nonsense	probably null
R6296:Ankar	UTSW	1	72,682,417 (GRCm39)	missense	probably damaging	1.00
R6488:Ankar	UTSW	1	72,720,967 (GRCm39)	critical splice donor site	probably null
R6885:Ankar	UTSW	1	72,682,195 (GRCm39)	missense	unknown
R6985:Ankar	UTSW	1	72,697,641 (GRCm39)	missense	probably damaging	1.00
R7060:Ankar	UTSW	1	72,695,272 (GRCm39)	missense	probably benign	0.18
R7099:Ankar	UTSW	1	72,682,452 (GRCm39)	missense	probably damaging	0.99
R7194:Ankar	UTSW	1	72,698,192 (GRCm39)	missense	probably benign	0.32
R7221:Ankar	UTSW	1	72,689,390 (GRCm39)	missense	probably damaging	1.00
R7222:Ankar	UTSW	1	72,705,514 (GRCm39)	missense	probably damaging	0.99
R7258:Ankar	UTSW	1	72,690,886 (GRCm39)	missense	probably benign	0.40
R7303:Ankar	UTSW	1	72,698,192 (GRCm39)	missense	probably benign	0.32
R7308:Ankar	UTSW	1	72,690,953 (GRCm39)	nonsense	probably null
R7384:Ankar	UTSW	1	72,697,624 (GRCm39)	missense	probably benign	0.00
R7424:Ankar	UTSW	1	72,719,217 (GRCm39)	missense	probably damaging	1.00
R7464:Ankar	UTSW	1	72,738,053 (GRCm39)	missense	possibly damaging	0.94
R7525:Ankar	UTSW	1	72,727,800 (GRCm39)	missense	probably benign	0.18
R7618:Ankar	UTSW	1	72,714,925 (GRCm39)	missense	probably benign	0.22
R7659:Ankar	UTSW	1	72,729,294 (GRCm39)	missense	possibly damaging	0.95
R7974:Ankar	UTSW	1	72,738,138 (GRCm39)	nonsense	probably null
R8008:Ankar	UTSW	1	72,705,643 (GRCm39)	missense	possibly damaging	0.47
R8119:Ankar	UTSW	1	72,686,160 (GRCm39)	missense	probably damaging	0.98
R8244:Ankar	UTSW	1	72,690,183 (GRCm39)	missense	probably benign
R8342:Ankar	UTSW	1	72,691,619 (GRCm39)	missense	probably damaging	1.00
R8494:Ankar	UTSW	1	72,697,953 (GRCm39)	missense	probably benign	0.16
R8851:Ankar	UTSW	1	72,691,535 (GRCm39)	missense	probably damaging	1.00
R8970:Ankar	UTSW	1	72,691,496 (GRCm39)	critical splice donor site	probably null
R9228:Ankar	UTSW	1	72,713,210 (GRCm39)	missense	probably benign	0.27
R9511:Ankar	UTSW	1	72,719,161 (GRCm39)	missense	probably benign	0.23
R9577:Ankar	UTSW	1	72,721,067 (GRCm39)	missense	probably benign	0.02
R9647:Ankar	UTSW	1	72,689,307 (GRCm39)	missense	probably damaging	1.00
R9803:Ankar	UTSW	1	72,698,340 (GRCm39)	missense	possibly damaging	0.47
Z1176:Ankar	UTSW	1	72,729,120 (GRCm39)	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