Mutagenetix > Incidental Mutation

Incidental Mutation 'R6626:Ank1'

524806

Institutional Source

Beutler Lab

Gene Symbol

Ank1

Ensembl Gene

ENSMUSG00000031543

Gene Name

ankyrin 1, erythroid

Synonyms

Ank-1, pale

MMRRC Submission

044748-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R6626 (G1)

Quality Score

107.008

Status

Validated

Chromosome

Chromosomal Location

23464860-23640513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23465207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 19 (L19H)

Ref Sequence

ENSEMBL: ENSMUSP00000113571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110688] [ENSMUST00000117270] [ENSMUST00000121802]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110688
AA Change: L19H

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543
AA Change: L19H

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
ANK	44	73	2.5e3	SMART
ANK	77	106	3.26e0	SMART
ANK	110	139	3.15e-7	SMART
ANK	143	172	9.05e-8	SMART
ANK	176	204	4.67e-1	SMART
ANK	205	234	1.42e0	SMART
ANK	238	267	4.39e-6	SMART
ANK	271	300	1.33e-5	SMART
ANK	304	333	7.53e-5	SMART
ANK	337	366	2.35e-6	SMART
ANK	370	399	6.65e-6	SMART
ANK	403	432	5.2e-8	SMART
ANK	436	465	8.78e-6	SMART
ANK	469	498	7.53e-5	SMART
ANK	502	531	5.49e-7	SMART
ANK	535	564	2.58e-3	SMART
ANK	568	597	1.88e-5	SMART
ANK	601	630	1.02e-6	SMART
ANK	634	663	7.64e-6	SMART
ANK	667	698	3.23e-4	SMART
ANK	700	729	1.38e-3	SMART
ANK	733	762	1.58e-7	SMART
ANK	766	795	2.85e-5	SMART
ZU5	944	1048	1.9e-60	SMART
low complexity region	1071	1080	N/A	INTRINSIC
low complexity region	1408	1418	N/A	INTRINSIC
DEATH	1426	1520	3.21e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117270
AA Change: L19H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113495
Gene: ENSMUSG00000031543
AA Change: L19H

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
ANK	44	73	2.5e3	SMART
ANK	77	106	3.26e0	SMART
ANK	110	139	3.15e-7	SMART
ANK	143	172	9.05e-8	SMART
ANK	176	204	4.67e-1	SMART
ANK	205	234	1.42e0	SMART
ANK	238	267	4.39e-6	SMART
ANK	271	300	1.33e-5	SMART
ANK	304	333	7.53e-5	SMART
ANK	337	366	2.35e-6	SMART
ANK	370	399	6.65e-6	SMART
ANK	403	432	5.2e-8	SMART
ANK	436	465	8.78e-6	SMART
ANK	469	498	7.53e-5	SMART
ANK	502	531	5.49e-7	SMART
ANK	535	564	2.58e-3	SMART
ANK	568	597	1.88e-5	SMART
ANK	601	630	1.02e-6	SMART
ANK	634	663	7.64e-6	SMART
ANK	667	698	3.23e-4	SMART
ANK	700	729	1.38e-3	SMART
ANK	733	762	1.58e-7	SMART
ANK	766	795	2.85e-5	SMART
ZU5	952	1056	1.9e-60	SMART
low complexity region	1079	1088	N/A	INTRINSIC
low complexity region	1416	1426	N/A	INTRINSIC
DEATH	1434	1528	3.21e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121802
AA Change: L19H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543
AA Change: L19H

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
ANK	44	73	2.5e3	SMART
ANK	77	106	3.26e0	SMART
ANK	110	139	3.15e-7	SMART
ANK	143	172	9.05e-8	SMART
ANK	176	204	4.67e-1	SMART
ANK	205	234	1.42e0	SMART
ANK	238	267	4.39e-6	SMART
ANK	271	300	1.33e-5	SMART
ANK	304	333	7.53e-5	SMART
ANK	337	366	2.35e-6	SMART
ANK	370	399	6.65e-6	SMART
ANK	403	432	5.2e-8	SMART
ANK	436	465	8.78e-6	SMART
ANK	469	498	7.53e-5	SMART
ANK	502	531	5.49e-7	SMART
ANK	535	564	2.58e-3	SMART
ANK	568	597	1.88e-5	SMART
ANK	601	630	1.02e-6	SMART
ANK	634	663	7.64e-6	SMART
ANK	667	698	3.23e-4	SMART
ANK	700	729	1.38e-3	SMART
ANK	733	762	1.58e-7	SMART
ANK	766	795	2.85e-5	SMART
ZU5	952	1056	1.9e-60	SMART
low complexity region	1079	1088	N/A	INTRINSIC
low complexity region	1416	1426	N/A	INTRINSIC
DEATH	1434	1528	3.21e-26	SMART

Meta Mutation Damage Score

0.1381

Coding Region Coverage

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

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	T	C	11: 3,888,056 (GRCm39)	H110R	unknown	Het
Adgrv1	T	A	13: 81,666,245 (GRCm39)	D1937V	probably damaging	Het
Bcl9	C	T	3: 97,122,712 (GRCm39)	R29H	probably benign	Het
Boc	A	T	16: 44,340,803 (GRCm39)	I49N	possibly damaging	Het
C8a	T	C	4: 104,703,164 (GRCm39)	I298V	probably benign	Het
Cacna1s	T	C	1: 136,022,703 (GRCm39)	S879P	probably damaging	Het
Cacna2d3	T	C	14: 28,786,143 (GRCm39)		probably benign	Het
Dnm1	A	G	2: 32,230,892 (GRCm39)	I63T	probably damaging	Het
Flnb	C	T	14: 7,929,012 (GRCm38)	R1914C	probably damaging	Het
Gm9493	A	T	19: 23,597,209 (GRCm39)	K35M	possibly damaging	Het
Gpld1	T	C	13: 25,163,953 (GRCm39)	S552P	probably damaging	Het
Hacd1	T	A	2: 14,031,755 (GRCm39)	I243F	probably benign	Het
Klhdc4	A	G	8: 122,546,901 (GRCm39)	V110A	probably benign	Het
Krt26	C	T	11: 99,220,528 (GRCm39)	V441M	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Nav2	A	G	7: 49,244,100 (GRCm39)	Y2109C	probably damaging	Het
Ncbp3	T	A	11: 72,964,210 (GRCm39)	S387T	possibly damaging	Het
Notch2	T	G	3: 98,008,921 (GRCm39)	V513G	probably damaging	Het
Nt5c1b	A	T	12: 10,424,837 (GRCm39)	R128*	probably null	Het
Olig2	T	C	16: 91,024,044 (GRCm39)	S253P	unknown	Het
Or6b1	A	G	6: 42,815,582 (GRCm39)	M256V	probably benign	Het
Or8g17	A	G	9: 38,930,402 (GRCm39)	V145A	possibly damaging	Het
Or8k53	C	T	2: 86,177,364 (GRCm39)	V249I	possibly damaging	Het
Phkb	T	A	8: 86,648,780 (GRCm39)	F199I	probably damaging	Het
Rnf17	A	G	14: 56,665,381 (GRCm39)	T178A	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sfxn2	A	T	19: 46,570,967 (GRCm39)	N9I	possibly damaging	Het
Slc16a4	G	A	3: 107,208,512 (GRCm39)	A341T	possibly damaging	Het
Spata31h1	A	G	10: 82,128,667 (GRCm39)	F1448L	probably benign	Het
Tank	T	A	2: 61,480,640 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,677,822 (GRCm39)	Y69F	probably damaging	Het
Trp53bp1	T	C	2: 121,038,284 (GRCm39)	D1518G	probably damaging	Het
Txndc16	T	C	14: 45,398,792 (GRCm39)		probably null	Het
Ugp2	A	G	11: 21,281,028 (GRCm39)	Y227H	probably damaging	Het
Vps50	G	A	6: 3,551,101 (GRCm39)	W388*	probably null	Het
Zfp516	T	A	18: 83,006,232 (GRCm39)	D1045E	probably damaging	Het
Zscan10	C	T	17: 23,824,831 (GRCm39)	P96S	probably damaging	Het

Other mutations in Ank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Ank1	APN	8	23,631,660 (GRCm39)	missense	probably damaging	1.00
IGL01099:Ank1	APN	8	23,598,265 (GRCm39)	missense	probably damaging	0.97
IGL01586:Ank1	APN	8	23,610,928 (GRCm39)	missense	probably benign
IGL01866:Ank1	APN	8	23,583,871 (GRCm39)	missense	possibly damaging	0.88
IGL01977:Ank1	APN	8	23,605,449 (GRCm39)	missense	probably benign	0.01
IGL02109:Ank1	APN	8	23,586,200 (GRCm39)	missense	probably damaging	1.00
IGL02182:Ank1	APN	8	23,603,868 (GRCm39)	missense	possibly damaging	0.89
IGL02261:Ank1	APN	8	23,578,015 (GRCm39)	missense	probably damaging	1.00
IGL02283:Ank1	APN	8	23,609,450 (GRCm39)	critical splice donor site	probably null
IGL02335:Ank1	APN	8	23,625,654 (GRCm39)	missense	possibly damaging	0.86
IGL02933:Ank1	APN	8	23,612,881 (GRCm39)	missense	possibly damaging	0.52
IGL03056:Ank1	APN	8	23,631,195 (GRCm39)	missense	probably damaging	1.00
IGL03089:Ank1	APN	8	23,594,848 (GRCm39)	missense	probably benign	0.00
IGL03257:Ank1	APN	8	23,612,914 (GRCm39)	missense	probably damaging	1.00
IGL03389:Ank1	APN	8	23,578,076 (GRCm39)	critical splice donor site	probably null
Hema6	UTSW	8	23,587,653 (GRCm39)	intron	probably benign
BB006:Ank1	UTSW	8	23,606,123 (GRCm39)	missense	probably damaging	1.00
BB016:Ank1	UTSW	8	23,606,123 (GRCm39)	missense	probably damaging	1.00
R0030:Ank1	UTSW	8	23,583,909 (GRCm39)	missense	probably damaging	1.00
R0077:Ank1	UTSW	8	23,630,183 (GRCm39)	missense	probably damaging	1.00
R0081:Ank1	UTSW	8	23,606,258 (GRCm39)	missense	possibly damaging	0.95
R0147:Ank1	UTSW	8	23,613,993 (GRCm39)	missense	probably damaging	1.00
R0148:Ank1	UTSW	8	23,613,993 (GRCm39)	missense	probably damaging	1.00
R0200:Ank1	UTSW	8	23,586,828 (GRCm39)	missense	probably damaging	1.00
R0270:Ank1	UTSW	8	23,578,941 (GRCm39)	splice site	probably benign
R0309:Ank1	UTSW	8	23,594,825 (GRCm39)	missense	probably damaging	1.00
R0490:Ank1	UTSW	8	23,597,890 (GRCm39)	splice site	probably benign
R0675:Ank1	UTSW	8	23,600,400 (GRCm39)	splice site	probably benign
R0738:Ank1	UTSW	8	23,604,130 (GRCm39)	missense	probably damaging	0.98
R1051:Ank1	UTSW	8	23,583,956 (GRCm39)	missense	probably damaging	1.00
R1239:Ank1	UTSW	8	23,586,171 (GRCm39)	missense	probably damaging	1.00
R1265:Ank1	UTSW	8	23,607,053 (GRCm39)	missense	possibly damaging	0.64
R1367:Ank1	UTSW	8	23,601,819 (GRCm39)	splice site	probably benign
R1413:Ank1	UTSW	8	23,609,393 (GRCm39)	missense	probably damaging	1.00
R1539:Ank1	UTSW	8	23,583,935 (GRCm39)	missense	probably damaging	1.00
R1682:Ank1	UTSW	8	23,599,343 (GRCm39)	missense	probably damaging	1.00
R1732:Ank1	UTSW	8	23,601,479 (GRCm39)	splice site	probably benign
R1911:Ank1	UTSW	8	23,589,666 (GRCm39)	missense	probably damaging	1.00
R2087:Ank1	UTSW	8	23,583,827 (GRCm39)	missense	probably damaging	1.00
R2184:Ank1	UTSW	8	23,599,270 (GRCm39)	missense	probably damaging	0.98
R2302:Ank1	UTSW	8	23,609,415 (GRCm39)	missense	probably damaging	1.00
R2356:Ank1	UTSW	8	23,575,688 (GRCm39)	missense	probably damaging	1.00
R2495:Ank1	UTSW	8	23,622,280 (GRCm39)	missense	probably damaging	1.00
R3000:Ank1	UTSW	8	23,609,447 (GRCm39)	missense	probably damaging	1.00
R3113:Ank1	UTSW	8	23,574,813 (GRCm39)	missense	probably damaging	1.00
R3710:Ank1	UTSW	8	23,577,095 (GRCm39)	missense	probably damaging	1.00
R3768:Ank1	UTSW	8	23,606,202 (GRCm39)	missense	possibly damaging	0.92
R3771:Ank1	UTSW	8	23,613,913 (GRCm39)	missense	probably benign	0.03
R4002:Ank1	UTSW	8	23,629,479 (GRCm39)	missense	probably damaging	0.98
R4478:Ank1	UTSW	8	23,610,594 (GRCm39)	missense	probably benign	0.30
R4755:Ank1	UTSW	8	23,594,990 (GRCm39)	missense	probably damaging	1.00
R4756:Ank1	UTSW	8	23,612,893 (GRCm39)	missense	probably benign
R4979:Ank1	UTSW	8	23,622,212 (GRCm39)	missense	probably damaging	0.98
R4989:Ank1	UTSW	8	23,631,134 (GRCm39)	intron	probably benign
R5011:Ank1	UTSW	8	23,572,300 (GRCm39)	missense	probably damaging	1.00
R5013:Ank1	UTSW	8	23,572,300 (GRCm39)	missense	probably damaging	1.00
R5031:Ank1	UTSW	8	23,589,696 (GRCm39)	missense	probably damaging	1.00
R5051:Ank1	UTSW	8	23,609,397 (GRCm39)	missense	probably damaging	1.00
R5059:Ank1	UTSW	8	23,586,204 (GRCm39)	missense	probably damaging	0.99
R5086:Ank1	UTSW	8	23,578,634 (GRCm39)	missense	probably damaging	1.00
R5108:Ank1	UTSW	8	23,622,571 (GRCm39)	missense	probably benign	0.11
R5235:Ank1	UTSW	8	23,572,212 (GRCm39)	missense	probably damaging	1.00
R5300:Ank1	UTSW	8	23,622,517 (GRCm39)	missense	probably benign	0.00
R5408:Ank1	UTSW	8	23,572,209 (GRCm39)	missense	probably damaging	1.00
R5537:Ank1	UTSW	8	23,604,892 (GRCm39)	missense	probably damaging	1.00
R5728:Ank1	UTSW	8	23,612,783 (GRCm39)	critical splice acceptor site	probably null
R5746:Ank1	UTSW	8	23,606,612 (GRCm39)	missense	probably damaging	1.00
R5837:Ank1	UTSW	8	23,594,806 (GRCm39)	missense	probably damaging	0.99
R5907:Ank1	UTSW	8	23,630,220 (GRCm39)	missense	probably damaging	1.00
R5997:Ank1	UTSW	8	23,589,678 (GRCm39)	missense	probably damaging	1.00
R6005:Ank1	UTSW	8	23,622,218 (GRCm39)	missense	probably damaging	1.00
R6046:Ank1	UTSW	8	23,606,114 (GRCm39)	missense	probably damaging	1.00
R6103:Ank1	UTSW	8	23,603,999 (GRCm39)	missense	probably damaging	1.00
R6268:Ank1	UTSW	8	23,599,687 (GRCm39)	missense	probably damaging	1.00
R6430:Ank1	UTSW	8	23,622,125 (GRCm39)	missense	probably damaging	1.00
R6457:Ank1	UTSW	8	23,577,983 (GRCm39)	missense	probably damaging	1.00
R6935:Ank1	UTSW	8	23,598,247 (GRCm39)	missense	probably damaging	1.00
R7091:Ank1	UTSW	8	23,548,679 (GRCm39)	missense	probably benign
R7162:Ank1	UTSW	8	23,622,370 (GRCm39)	missense	possibly damaging	0.94
R7475:Ank1	UTSW	8	23,622,646 (GRCm39)	missense	probably benign
R7546:Ank1	UTSW	8	23,555,011 (GRCm39)	missense	probably damaging	1.00
R7678:Ank1	UTSW	8	23,607,074 (GRCm39)	missense	probably damaging	0.98
R7768:Ank1	UTSW	8	23,588,013 (GRCm39)	missense	probably benign	0.01
R7779:Ank1	UTSW	8	23,586,763 (GRCm39)	critical splice acceptor site	probably null
R7864:Ank1	UTSW	8	23,577,976 (GRCm39)	missense	probably damaging	1.00
R7929:Ank1	UTSW	8	23,606,123 (GRCm39)	missense	probably damaging	1.00
R7982:Ank1	UTSW	8	23,609,397 (GRCm39)	missense	probably damaging	1.00
R7984:Ank1	UTSW	8	23,578,982 (GRCm39)	missense	probably damaging	1.00
R8273:Ank1	UTSW	8	23,575,668 (GRCm39)	missense	probably damaging	1.00
R8318:Ank1	UTSW	8	23,605,567 (GRCm39)	missense	probably damaging	0.99
R8349:Ank1	UTSW	8	23,629,302 (GRCm39)	missense	possibly damaging	0.66
R8449:Ank1	UTSW	8	23,629,302 (GRCm39)	missense	possibly damaging	0.66
R8459:Ank1	UTSW	8	23,605,528 (GRCm39)	missense	probably damaging	1.00
R8506:Ank1	UTSW	8	23,586,851 (GRCm39)	missense	probably damaging	1.00
R8889:Ank1	UTSW	8	23,606,990 (GRCm39)	missense	probably damaging	1.00
R8893:Ank1	UTSW	8	23,598,241 (GRCm39)	missense	probably damaging	1.00
R8924:Ank1	UTSW	8	23,589,011 (GRCm39)	missense	probably benign	0.00
R8993:Ank1	UTSW	8	23,588,955 (GRCm39)	missense	probably damaging	1.00
R9016:Ank1	UTSW	8	23,606,264 (GRCm39)	missense	probably null	0.99
R9017:Ank1	UTSW	8	23,606,264 (GRCm39)	missense	probably null	0.99
R9018:Ank1	UTSW	8	23,606,264 (GRCm39)	missense	probably null	0.99
R9086:Ank1	UTSW	8	23,589,636 (GRCm39)	missense	probably damaging	0.96
R9154:Ank1	UTSW	8	23,605,387 (GRCm39)	missense	probably damaging	0.96
R9194:Ank1	UTSW	8	23,606,255 (GRCm39)	missense	possibly damaging	0.64
R9347:Ank1	UTSW	8	23,607,076 (GRCm39)	missense	possibly damaging	0.65
R9419:Ank1	UTSW	8	23,574,825 (GRCm39)	missense	probably damaging	1.00
R9452:Ank1	UTSW	8	23,622,429 (GRCm39)	missense	probably benign	0.00
R9568:Ank1	UTSW	8	23,609,381 (GRCm39)	missense	probably benign
R9689:Ank1	UTSW	8	23,631,253 (GRCm39)	missense	probably benign
R9747:Ank1	UTSW	8	23,576,993 (GRCm39)	missense	probably damaging	0.97
RF024:Ank1	UTSW	8	23,609,360 (GRCm39)	missense	probably benign	0.37
X0066:Ank1	UTSW	8	23,631,600 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTACGAGCCTCCTCCCTC -3'
(R):5'- GAGTCTGGGGCAGCTTGC -3'

Sequencing Primer
(F):5'- CGAGCCCAGAGCCGGTG -3'
(R):5'- CAGCTTGCCGGAACCCC -3'

Posted On

2018-06-22