Mutagenetix > Incidental Mutation

Incidental Mutation 'R9584:Ankhd1'

722726

Institutional Source

Beutler Lab

Gene Symbol

Ankhd1

Ensembl Gene

ENSMUSG00000024483

Gene Name

ankyrin repeat and KH domain containing 1

Synonyms

A530027J04Rik, 9130019P20Rik, 4933432B13Rik, 1110004O12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9584 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36693656-36791961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36798504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 635 (N635Y)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036765] [ENSMUST00000142977] [ENSMUST00000173875]

AlphaFold

E9PUR0

Predicted Effect

probably benign
Transcript: ENSMUST00000006209

SMART Domains

Protein: ENSMUSP00000006209
Gene: ENSMUSG00000006050

Domain	Start	End	E-Value	Type
Pfam:SRA1	65	208	1e-67	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000036765

SMART Domains

Protein: ENSMUSP00000039298
Gene: ENSMUSG00000090264

Domain	Start	End	E-Value	Type
Pfam:eIF_4EBP	3	101	4.8e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140061
AA Change: N635Y

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121811
Gene: ENSMUSG00000024483
AA Change: N635Y

Domain	Start	End	E-Value	Type
low complexity region	54	70	N/A	INTRINSIC
low complexity region	77	94	N/A	INTRINSIC
low complexity region	355	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142977

SMART Domains

Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483

Domain	Start	End	E-Value	Type
low complexity region	20	38	N/A	INTRINSIC
low complexity region	48	78	N/A	INTRINSIC
low complexity region	91	109	N/A	INTRINSIC
ANK	207	236	2.11e2	SMART
ANK	240	269	3.31e-1	SMART
ANK	274	303	5.24e-4	SMART
ANK	307	336	7.64e-6	SMART
ANK	340	369	2.7e-6	SMART
ANK	374	403	3.23e-4	SMART
ANK	407	436	1.61e-4	SMART
ANK	440	469	5.16e-3	SMART
ANK	473	502	4.16e-7	SMART
ANK	507	536	1.68e-2	SMART
ANK	537	566	7.02e-5	SMART
ANK	570	599	7.95e-4	SMART
ANK	603	632	4.56e-4	SMART
ANK	637	666	9.64e-3	SMART
ANK	670	699	6.71e-2	SMART
coiled coil region	815	855	N/A	INTRINSIC
ANK	1057	1086	2.07e-2	SMART
ANK	1090	1119	2.48e-5	SMART
ANK	1124	1153	3.85e-2	SMART
ANK	1157	1186	1.61e-4	SMART
ANK	1192	1221	1.24e-5	SMART
ANK	1226	1255	1.59e-3	SMART
ANK	1259	1288	3.91e-3	SMART
ANK	1294	1323	5.93e-3	SMART
ANK	1327	1356	9.41e-6	SMART
ANK	1360	1393	3.8e-1	SMART
coiled coil region	1422	1486	N/A	INTRINSIC
low complexity region	1509	1526	N/A	INTRINSIC
low complexity region	1538	1557	N/A	INTRINSIC
low complexity region	1585	1604	N/A	INTRINSIC
KH	1693	1763	5.04e-13	SMART
low complexity region	1968	2001	N/A	INTRINSIC
low complexity region	2041	2057	N/A	INTRINSIC
low complexity region	2064	2081	N/A	INTRINSIC
low complexity region	2334	2346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173482

Predicted Effect

probably benign
Transcript: ENSMUST00000173875

SMART Domains

Protein: ENSMUSP00000133360
Gene: ENSMUSG00000006050

Domain	Start	End	E-Value	Type
Pfam:SRA1	72	217	1.1e-70	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	G	13: 70,949,136 (GRCm39)	D175A	probably damaging	Het
Asxl2	T	C	12: 3,550,667 (GRCm39)	V803A	possibly damaging	Het
Brsk1	T	A	7: 4,709,662 (GRCm39)	S430T	possibly damaging	Het
Btbd8	A	T	5: 107,658,347 (GRCm39)	H1639L	probably benign	Het
Cacna2d2	T	C	9: 107,277,404 (GRCm39)	L46P	probably damaging	Het
Casz1	A	G	4: 148,985,704 (GRCm39)		probably benign	Het
Catsper2	A	T	2: 121,230,301 (GRCm39)	N344K	probably damaging	Het
Ccdc80	A	G	16: 44,915,675 (GRCm39)	S144G	probably damaging	Het
Cdh10	A	T	15: 18,992,095 (GRCm39)	L451F	probably benign	Het
Chil6	A	G	3: 106,301,672 (GRCm39)	F143L	probably damaging	Het
Dock7	G	A	4: 98,861,481 (GRCm39)	R1379*	probably null	Het
Dop1a	C	A	9: 86,385,151 (GRCm39)	L366I	possibly damaging	Het
Foxg1	G	A	12: 49,432,406 (GRCm39)	V380M	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hipk3	A	G	2: 104,301,910 (GRCm39)	V94A	probably benign	Het
Impg1	T	C	9: 80,322,849 (GRCm39)	H52R	probably benign	Het
Kcnv2	T	C	19: 27,300,265 (GRCm39)	S39P	probably damaging	Het
Knop1	G	A	7: 118,447,709 (GRCm39)	S417L	unknown	Het
Muc1	C	T	3: 89,138,373 (GRCm39)	T405I	probably benign	Het
Nlrp2	C	A	7: 5,322,215 (GRCm39)	D811Y	probably damaging	Het
Nvl	A	G	1: 180,958,431 (GRCm39)	L206S	probably benign	Het
Or5ac19	A	G	16: 59,089,580 (GRCm39)	L150S	probably benign	Het
Or8g17	G	A	9: 38,930,462 (GRCm39)	A125V	probably damaging	Het
Orai3	G	T	7: 127,373,177 (GRCm39)	R226L	probably benign	Het
Pacs1	T	C	19: 5,322,622 (GRCm39)	M99V	probably benign	Het
Pag1	A	G	3: 9,761,214 (GRCm39)	S298P	probably damaging	Het
Pde4c	T	C	8: 71,200,728 (GRCm39)	V419A	probably benign	Het
Pitpna	C	A	11: 75,510,368 (GRCm39)	N208K	probably benign	Het
Pnpo	C	A	11: 96,831,705 (GRCm39)	E114*	probably null	Het
Pou5f2	A	G	13: 78,173,592 (GRCm39)	E178G	possibly damaging	Het
Psph	G	A	5: 129,847,752 (GRCm39)	R65C	probably damaging	Het
Sgsh	T	C	11: 119,241,789 (GRCm39)	S106G	possibly damaging	Het
Synrg	A	G	11: 83,900,200 (GRCm39)	K724R	probably damaging	Het
Tet1	A	T	10: 62,655,306 (GRCm39)	F1538L	probably damaging	Het
Thada	G	A	17: 84,733,605 (GRCm39)	T1014I	probably benign	Het
Topbp1	T	C	9: 103,219,242 (GRCm39)	W1165R	probably damaging	Het
Trrap	G	A	5: 144,777,330 (GRCm39)	V3043M	probably damaging	Het
Tshz1	G	A	18: 84,033,089 (GRCm39)	H440Y	probably damaging	Het
Vwa8	A	G	14: 79,394,549 (GRCm39)	D1550G	probably benign	Het

Other mutations in Ankhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Ankhd1	APN	18	36,798,512 (GRCm39)	unclassified	probably benign
IGL00927:Ankhd1	APN	18	36,765,125 (GRCm39)	missense	probably benign	0.01
IGL01367:Ankhd1	APN	18	36,711,696 (GRCm39)	missense	probably benign	0.16
IGL01624:Ankhd1	APN	18	36,791,066 (GRCm39)	missense	probably damaging	1.00
IGL01725:Ankhd1	APN	18	36,781,206 (GRCm39)	missense	probably benign	0.04
IGL01767:Ankhd1	APN	18	36,781,427 (GRCm39)	missense	probably damaging	1.00
IGL02005:Ankhd1	APN	18	36,781,479 (GRCm39)	missense	probably damaging	1.00
IGL02009:Ankhd1	APN	18	36,757,714 (GRCm39)	missense	probably damaging	1.00
IGL02246:Ankhd1	APN	18	36,789,779 (GRCm39)	missense	probably damaging	1.00
IGL02336:Ankhd1	APN	18	36,727,867 (GRCm39)	missense	probably damaging	0.97
IGL02628:Ankhd1	APN	18	36,780,756 (GRCm39)	missense	probably benign	0.00
IGL02644:Ankhd1	APN	18	36,711,828 (GRCm39)	critical splice donor site	probably null
IGL02735:Ankhd1	APN	18	36,781,599 (GRCm39)	missense	probably benign	0.00
IGL02877:Ankhd1	APN	18	36,727,876 (GRCm39)	missense	probably damaging	1.00
IGL03129:Ankhd1	APN	18	36,791,061 (GRCm39)	nonsense	probably null
IGL03163:Ankhd1	APN	18	36,780,681 (GRCm39)	missense	probably damaging	0.97
IGL03182:Ankhd1	APN	18	36,711,827 (GRCm39)	missense	probably benign	0.06
IGL03184:Ankhd1	APN	18	36,780,830 (GRCm39)	missense	probably damaging	1.00
IGL03398:Ankhd1	APN	18	36,789,890 (GRCm39)	splice site	probably benign
FR4304:Ankhd1	UTSW	18	36,693,977 (GRCm39)	small insertion	probably benign
R0051:Ankhd1	UTSW	18	36,780,241 (GRCm39)	unclassified	probably benign
R0089:Ankhd1	UTSW	18	36,773,409 (GRCm39)	missense	probably damaging	0.99
R0105:Ankhd1	UTSW	18	36,779,819 (GRCm39)	missense	probably damaging	1.00
R0149:Ankhd1	UTSW	18	36,780,267 (GRCm39)	missense	probably damaging	1.00
R0243:Ankhd1	UTSW	18	36,767,787 (GRCm39)	missense	probably damaging	1.00
R0322:Ankhd1	UTSW	18	36,791,061 (GRCm39)	nonsense	probably null
R0361:Ankhd1	UTSW	18	36,780,267 (GRCm39)	missense	probably damaging	1.00
R0389:Ankhd1	UTSW	18	36,777,652 (GRCm39)	missense	possibly damaging	0.48
R0418:Ankhd1	UTSW	18	36,767,353 (GRCm39)	missense	probably damaging	1.00
R0443:Ankhd1	UTSW	18	36,777,652 (GRCm39)	missense	possibly damaging	0.48
R0540:Ankhd1	UTSW	18	36,773,333 (GRCm39)	missense	probably damaging	1.00
R0607:Ankhd1	UTSW	18	36,773,333 (GRCm39)	missense	probably damaging	1.00
R0738:Ankhd1	UTSW	18	36,778,302 (GRCm39)	splice site	probably benign
R1127:Ankhd1	UTSW	18	36,767,399 (GRCm39)	missense	probably damaging	1.00
R1434:Ankhd1	UTSW	18	36,758,212 (GRCm39)	missense	probably benign	0.09
R1742:Ankhd1	UTSW	18	36,758,318 (GRCm39)	missense	probably damaging	1.00
R1776:Ankhd1	UTSW	18	36,780,361 (GRCm39)	missense	probably benign	0.17
R1856:Ankhd1	UTSW	18	36,777,580 (GRCm39)	missense	probably benign	0.00
R1923:Ankhd1	UTSW	18	36,781,083 (GRCm39)	missense	probably benign	0.08
R2044:Ankhd1	UTSW	18	36,778,166 (GRCm39)	missense	probably benign	0.31
R2112:Ankhd1	UTSW	18	36,774,679 (GRCm39)	missense	probably damaging	1.00
R2115:Ankhd1	UTSW	18	36,767,361 (GRCm39)	missense	probably damaging	1.00
R2136:Ankhd1	UTSW	18	36,780,674 (GRCm39)	missense	probably benign
R2196:Ankhd1	UTSW	18	36,781,432 (GRCm39)	missense	probably damaging	1.00
R2291:Ankhd1	UTSW	18	36,777,386 (GRCm39)	missense	probably benign	0.31
R2305:Ankhd1	UTSW	18	36,775,979 (GRCm39)	missense	possibly damaging	0.59
R2309:Ankhd1	UTSW	18	36,757,818 (GRCm39)	missense	probably damaging	1.00
R2519:Ankhd1	UTSW	18	36,711,596 (GRCm39)	splice site	probably null
R2958:Ankhd1	UTSW	18	36,767,782 (GRCm39)	missense	probably damaging	1.00
R3978:Ankhd1	UTSW	18	36,780,666 (GRCm39)	missense	probably damaging	0.96
R3980:Ankhd1	UTSW	18	36,780,666 (GRCm39)	missense	probably damaging	0.96
R4159:Ankhd1	UTSW	18	36,722,593 (GRCm39)	missense	possibly damaging	0.91
R4199:Ankhd1	UTSW	18	36,794,101 (GRCm39)	unclassified	probably benign
R4323:Ankhd1	UTSW	18	36,711,686 (GRCm39)	missense	probably damaging	1.00
R4356:Ankhd1	UTSW	18	36,776,096 (GRCm39)	nonsense	probably null
R4496:Ankhd1	UTSW	18	36,693,839 (GRCm39)	missense	probably damaging	0.98
R4551:Ankhd1	UTSW	18	36,788,560 (GRCm39)	splice site	probably null
R4590:Ankhd1	UTSW	18	36,716,697 (GRCm39)	missense	probably damaging	1.00
R4667:Ankhd1	UTSW	18	36,781,074 (GRCm39)	missense	possibly damaging	0.77
R4889:Ankhd1	UTSW	18	36,711,787 (GRCm39)	missense	probably null	0.00
R4923:Ankhd1	UTSW	18	36,722,505 (GRCm39)	missense	probably damaging	1.00
R5091:Ankhd1	UTSW	18	36,758,080 (GRCm39)	missense	possibly damaging	0.68
R5254:Ankhd1	UTSW	18	36,789,768 (GRCm39)	missense	probably benign	0.05
R5314:Ankhd1	UTSW	18	36,694,111 (GRCm39)	splice site	probably null
R5336:Ankhd1	UTSW	18	36,779,769 (GRCm39)	missense	probably damaging	1.00
R5367:Ankhd1	UTSW	18	36,722,461 (GRCm39)	missense	probably damaging	1.00
R5384:Ankhd1	UTSW	18	36,724,548 (GRCm39)	missense	probably damaging	1.00
R5385:Ankhd1	UTSW	18	36,724,548 (GRCm39)	missense	probably damaging	1.00
R5387:Ankhd1	UTSW	18	36,767,697 (GRCm39)	missense	probably damaging	1.00
R5458:Ankhd1	UTSW	18	36,781,538 (GRCm39)	missense	probably benign	0.01
R5599:Ankhd1	UTSW	18	36,693,860 (GRCm39)	missense	probably damaging	0.98
R5659:Ankhd1	UTSW	18	36,694,103 (GRCm39)	missense	probably damaging	1.00
R5750:Ankhd1	UTSW	18	36,757,955 (GRCm39)	missense	probably benign	0.00
R5874:Ankhd1	UTSW	18	36,773,322 (GRCm39)	missense	possibly damaging	0.92
R5894:Ankhd1	UTSW	18	36,780,577 (GRCm39)	missense	probably damaging	0.99
R5969:Ankhd1	UTSW	18	36,733,887 (GRCm39)	missense	probably damaging	1.00
R6133:Ankhd1	UTSW	18	36,758,179 (GRCm39)	missense	possibly damaging	0.77
R6190:Ankhd1	UTSW	18	36,744,862 (GRCm39)	missense	possibly damaging	0.84
R6247:Ankhd1	UTSW	18	36,787,199 (GRCm39)	missense	probably benign	0.00
R6512:Ankhd1	UTSW	18	36,724,509 (GRCm39)	missense	probably damaging	1.00
R6649:Ankhd1	UTSW	18	36,733,836 (GRCm39)	splice site	probably null
R6653:Ankhd1	UTSW	18	36,733,836 (GRCm39)	splice site	probably null
R6763:Ankhd1	UTSW	18	36,776,022 (GRCm39)	missense	probably benign	0.31
R6976:Ankhd1	UTSW	18	36,781,307 (GRCm39)	missense	probably benign	0.00
R7075:Ankhd1	UTSW	18	36,693,042 (GRCm39)	missense
R7208:Ankhd1	UTSW	18	36,758,081 (GRCm39)	missense	probably benign
R7305:Ankhd1	UTSW	18	36,765,258 (GRCm39)	missense
R7615:Ankhd1	UTSW	18	36,789,826 (GRCm39)	missense
R7654:Ankhd1	UTSW	18	36,727,154 (GRCm39)	missense	probably damaging	1.00
R7781:Ankhd1	UTSW	18	36,758,258 (GRCm39)	missense	probably damaging	1.00
R7842:Ankhd1	UTSW	18	36,780,881 (GRCm39)	missense	probably benign	0.00
R7965:Ankhd1	UTSW	18	36,791,465 (GRCm39)	missense
R8006:Ankhd1	UTSW	18	36,781,772 (GRCm39)	missense
R8037:Ankhd1	UTSW	18	36,771,676 (GRCm39)	missense	probably damaging	0.98
R8123:Ankhd1	UTSW	18	36,708,136 (GRCm39)	missense
R8195:Ankhd1	UTSW	18	36,787,230 (GRCm39)	missense
R8305:Ankhd1	UTSW	18	36,780,219 (GRCm39)	missense	possibly damaging	0.79
R8708:Ankhd1	UTSW	18	36,727,344 (GRCm39)	missense	probably damaging	1.00
R8827:Ankhd1	UTSW	18	36,757,633 (GRCm39)	nonsense	probably null
R9138:Ankhd1	UTSW	18	36,693,961 (GRCm39)	small deletion	probably benign
R9139:Ankhd1	UTSW	18	36,711,810 (GRCm39)	missense
R9186:Ankhd1	UTSW	18	36,767,383 (GRCm39)	missense	possibly damaging	0.95
R9245:Ankhd1	UTSW	18	36,788,653 (GRCm39)	missense
R9254:Ankhd1	UTSW	18	36,777,680 (GRCm39)	missense	probably benign	0.03
R9262:Ankhd1	UTSW	18	36,765,799 (GRCm39)	missense
R9379:Ankhd1	UTSW	18	36,777,680 (GRCm39)	missense	probably benign	0.03
R9436:Ankhd1	UTSW	18	36,774,654 (GRCm39)	missense	probably benign	0.04
R9436:Ankhd1	UTSW	18	36,694,041 (GRCm39)	missense	probably benign	0.39
R9541:Ankhd1	UTSW	18	36,757,697 (GRCm39)	missense
R9664:Ankhd1	UTSW	18	36,780,878 (GRCm39)	missense	probably benign	0.03
RF001:Ankhd1	UTSW	18	36,693,974 (GRCm39)	small insertion	probably benign
RF004:Ankhd1	UTSW	18	36,693,963 (GRCm39)	small insertion	probably benign
RF007:Ankhd1	UTSW	18	36,693,962 (GRCm39)	small insertion	probably benign
RF008:Ankhd1	UTSW	18	36,693,977 (GRCm39)	small insertion	probably benign
RF009:Ankhd1	UTSW	18	36,693,975 (GRCm39)	small insertion	probably benign
RF013:Ankhd1	UTSW	18	36,693,979 (GRCm39)	small insertion	probably benign
RF016:Ankhd1	UTSW	18	36,693,963 (GRCm39)	small insertion	probably benign
RF016:Ankhd1	UTSW	18	36,693,962 (GRCm39)	small insertion	probably benign
RF017:Ankhd1	UTSW	18	36,693,962 (GRCm39)	small insertion	probably benign
RF018:Ankhd1	UTSW	18	36,693,965 (GRCm39)	small insertion	probably benign
RF026:Ankhd1	UTSW	18	36,693,965 (GRCm39)	small insertion	probably benign
RF030:Ankhd1	UTSW	18	36,693,980 (GRCm39)	small insertion	probably benign
RF030:Ankhd1	UTSW	18	36,693,966 (GRCm39)	small insertion	probably benign
RF039:Ankhd1	UTSW	18	36,693,971 (GRCm39)	small insertion	probably benign
RF043:Ankhd1	UTSW	18	36,693,970 (GRCm39)	small insertion	probably benign
RF046:Ankhd1	UTSW	18	36,693,979 (GRCm39)	small insertion	probably benign
RF047:Ankhd1	UTSW	18	36,693,976 (GRCm39)	small insertion	probably benign
RF047:Ankhd1	UTSW	18	36,693,970 (GRCm39)	small insertion	probably benign
RF049:Ankhd1	UTSW	18	36,693,976 (GRCm39)	small insertion	probably benign
RF050:Ankhd1	UTSW	18	36,693,980 (GRCm39)	small insertion	probably benign
RF054:Ankhd1	UTSW	18	36,693,982 (GRCm39)	small insertion	probably benign
RF057:Ankhd1	UTSW	18	36,693,982 (GRCm39)	small insertion	probably benign
RF060:Ankhd1	UTSW	18	36,693,975 (GRCm39)	small insertion	probably benign
RF061:Ankhd1	UTSW	18	36,693,974 (GRCm39)	small insertion	probably benign
RF062:Ankhd1	UTSW	18	36,693,971 (GRCm39)	small insertion	probably benign
X0027:Ankhd1	UTSW	18	36,757,885 (GRCm39)	missense	probably damaging	1.00
X0065:Ankhd1	UTSW	18	36,711,817 (GRCm39)	nonsense	probably null
X0066:Ankhd1	UTSW	18	36,779,757 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATTACCCCTTCACAGGC -3'
(R):5'- GGATGAGAGCTCCTTCCATTAC -3'

Sequencing Primer
(F):5'- GGCACCAGGATCATCTACG -3'
(R):5'- CCATACAGGTCATTTTGCACTAG -3'

Posted On

2022-08-09