Mutagenetix > Incidental Mutation

Incidental Mutation 'R9176:Ankrd55'

696704

Institutional Source

Beutler Lab

Gene Symbol

Ankrd55

Ensembl Gene

ENSMUSG00000049985

Gene Name

ankyrin repeat domain 55

Synonyms

C030011J08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112424985-112520536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112459610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 68 (V68A)

Ref Sequence

ENSEMBL: ENSMUSP00000022275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022275] [ENSMUST00000056047] [ENSMUST00000165593] [ENSMUST00000168684] [ENSMUST00000223871]

AlphaFold

Q8BLD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022275
AA Change: V68A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: V68A

Domain	Start	End	E-Value	Type
Blast:ANK	25	54	1e-9	BLAST
ANK	59	88	7.64e-6	SMART
ANK	92	121	4.18e2	SMART
ANK	125	156	4.86e1	SMART
ANK	160	189	5.32e-5	SMART
ANK	193	222	7.59e-1	SMART
ANK	229	257	2.97e2	SMART
ANK	263	292	5.71e-5	SMART
ANK	296	326	1.63e0	SMART
low complexity region	528	543	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056047
AA Change: V68A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058891
Gene: ENSMUSG00000049985
AA Change: V68A

Domain	Start	End	E-Value	Type
Blast:ANK	25	54	6e-10	BLAST
ANK	59	88	7.64e-6	SMART
ANK	92	121	4.18e2	SMART
ANK	125	156	4.86e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165593
AA Change: V40A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: V40A

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	8e-8	BLAST
ANK	31	60	7.64e-6	SMART
ANK	64	93	4.18e2	SMART
ANK	97	128	4.86e1	SMART
ANK	132	161	5.32e-5	SMART
ANK	165	194	7.59e-1	SMART
ANK	201	229	2.97e2	SMART
ANK	235	264	5.71e-5	SMART
ANK	268	298	1.63e0	SMART
low complexity region	500	515	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168684
AA Change: V68A

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129726
Gene: ENSMUSG00000049985
AA Change: V68A

Domain	Start	End	E-Value	Type
Blast:ANK	25	54	9e-10	BLAST
ANK	59	88	7.64e-6	SMART
ANK	92	121	4.18e2	SMART
ANK	125	156	4.86e1	SMART
ANK	160	189	5.32e-5	SMART
ANK	193	222	7.59e-1	SMART
ANK	229	257	2.97e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223871
AA Change: V40A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,121,004 (GRCm39)	D119G	probably damaging	Het
1700123K08Rik	T	C	5: 138,561,155 (GRCm39)	D169G	probably damaging	Het
Abcd2	T	G	15: 91,075,623 (GRCm39)	R63S	probably benign	Het
Avil	T	C	10: 126,852,248 (GRCm39)	Y678H	probably damaging	Het
Bltp1	T	A	3: 37,010,852 (GRCm39)	V1750E	possibly damaging	Het
Cd300ld2	C	A	11: 114,904,772 (GRCm39)	E32*	probably null	Het
Chuk	A	T	19: 44,076,442 (GRCm39)	L423Q	probably damaging	Het
Cisd3	A	G	11: 97,579,127 (GRCm39)	T90A	probably damaging	Het
Cmpk2	T	A	12: 26,524,027 (GRCm39)	S275T	probably benign	Het
Cntnap5c	T	A	17: 58,620,730 (GRCm39)	N936K	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col4a4	G	T	1: 82,463,349 (GRCm39)	P1047Q	unknown	Het
Col6a4	A	G	9: 105,938,755 (GRCm39)	L1321P	probably damaging	Het
Crat	A	G	2: 30,297,892 (GRCm39)	F211L	probably damaging	Het
Csmd3	T	C	15: 47,864,937 (GRCm39)	Q27R		Het
Dapk1	T	C	13: 60,866,262 (GRCm39)	V205A	probably damaging	Het
Ddx20	T	C	3: 105,586,158 (GRCm39)	N729S	probably benign	Het
Derl2	A	G	11: 70,904,376 (GRCm39)	V139A	possibly damaging	Het
Dscam	C	T	16: 96,486,553 (GRCm39)	D1041N	probably benign	Het
Fbxo2	A	T	4: 148,250,147 (GRCm39)	R226W	probably damaging	Het
Fhip1b	A	C	7: 105,030,585 (GRCm39)	H180Q	probably benign	Het
Fhip2b	T	C	14: 70,826,540 (GRCm39)	K183E	probably benign	Het
Gpr19	A	G	6: 134,846,718 (GRCm39)	S322P	probably damaging	Het
Gvin2	T	C	7: 105,551,262 (GRCm39)	K597E	possibly damaging	Het
Herc6	A	G	6: 57,636,663 (GRCm39)	N793S	probably benign	Het
Ikbke	A	T	1: 131,191,025 (GRCm39)	S563T	probably benign	Het
Il1r2	T	C	1: 40,144,478 (GRCm39)	L55P	probably damaging	Het
Klhl8	C	A	5: 104,012,111 (GRCm39)	A575S	probably benign	Het
Lims1	T	G	10: 58,254,265 (GRCm39)	C340G	probably damaging	Het
Loxl3	G	A	6: 83,026,292 (GRCm39)	C460Y	probably damaging	Het
Mapk9	T	A	11: 49,763,565 (GRCm39)	L152*	probably null	Het
Mef2d	T	C	3: 88,066,463 (GRCm39)	V144A	possibly damaging	Het
Mertk	A	G	2: 128,620,892 (GRCm39)	D578G	possibly damaging	Het
Mettl1	C	A	10: 126,881,250 (GRCm39)	Q254K	probably benign	Het
Naip2	T	C	13: 100,298,707 (GRCm39)	E443G	probably damaging	Het
Ndor1	A	G	2: 25,138,241 (GRCm39)	F484L	probably damaging	Het
Neurl1b	C	T	17: 26,660,055 (GRCm39)	T425I	possibly damaging	Het
Nomo1	G	A	7: 45,730,828 (GRCm39)	V1104M	possibly damaging	Het
Or13a19	G	T	7: 139,903,121 (GRCm39)	G170C	probably damaging	Het
Or13p8	T	A	4: 118,583,850 (GRCm39)	Y135*	probably null	Het
Or4c10b	T	C	2: 89,711,515 (GRCm39)	V115A	probably benign	Het
Or5b95	A	G	19: 12,657,600 (GRCm39)	M43V	probably benign	Het
Or5p57	A	G	7: 107,665,246 (GRCm39)	V223A	probably benign	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Or9i2	A	G	19: 13,815,796 (GRCm39)	V247A	probably damaging	Het
Parp4	A	G	14: 56,873,274 (GRCm39)	K1173E	possibly damaging	Het
Phkb	T	A	8: 86,697,623 (GRCm39)	N477K	probably damaging	Het
Plekha7	T	G	7: 115,739,926 (GRCm39)	I812L	possibly damaging	Het
Plxnb1	A	G	9: 108,941,651 (GRCm39)	T1711A	probably damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Pomt2	T	A	12: 87,194,451 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,316,123 (GRCm39)	H671R	probably damaging	Het
Prkca	G	A	11: 107,870,244 (GRCm39)	R15C	possibly damaging	Het
Prkch	T	A	12: 73,746,968 (GRCm39)	N282K	probably damaging	Het
Ptpn6	T	C	6: 124,702,249 (GRCm39)	R385G	probably benign	Het
Rad21	A	T	15: 51,841,455 (GRCm39)	M87K	probably damaging	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,103,689 (GRCm39)	V1857E	probably damaging	Het
Shprh	A	G	10: 11,036,320 (GRCm39)	T386A	probably benign	Het
Slco1b2	T	C	6: 141,598,229 (GRCm39)	L94P	probably damaging	Het
Snx29	A	G	16: 11,236,728 (GRCm39)	N90D	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tbc1d5	T	C	17: 51,089,363 (GRCm39)	T584A	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tpp2	A	G	1: 44,031,553 (GRCm39)	N1124D	probably null	Het
Trpv1	A	T	11: 73,130,481 (GRCm39)	T196S	probably benign	Het
Ulk4	T	C	9: 120,974,128 (GRCm39)	E968G	probably benign	Het
Zbtb8a	G	T	4: 129,254,221 (GRCm39)	T91K	probably damaging	Het
Zfp317	T	A	9: 19,559,163 (GRCm39)	V459E	probably damaging	Het
Zfp790	A	G	7: 29,529,387 (GRCm39)	T691A	probably benign	Het

Other mutations in Ankrd55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ankrd55	APN	13	112,504,328 (GRCm39)	missense	probably benign	0.01
IGL01372:Ankrd55	APN	13	112,459,677 (GRCm39)	missense	probably damaging	1.00
IGL01554:Ankrd55	APN	13	112,459,601 (GRCm39)	missense	possibly damaging	0.87
IGL01700:Ankrd55	APN	13	112,517,702 (GRCm39)	missense	probably benign	0.16
IGL02366:Ankrd55	APN	13	112,454,994 (GRCm39)	missense	probably damaging	1.00
IGL03368:Ankrd55	APN	13	112,455,090 (GRCm39)	splice site	probably benign
crescat	UTSW	13	112,485,397 (GRCm39)	critical splice donor site	probably null
Scientiam	UTSW	13	112,492,497 (GRCm39)	missense	probably damaging	0.99
I0000:Ankrd55	UTSW	13	112,485,259 (GRCm39)	splice site	probably benign
R0547:Ankrd55	UTSW	13	112,504,757 (GRCm39)	missense	probably benign	0.03
R0781:Ankrd55	UTSW	13	112,517,767 (GRCm39)	splice site	probably benign
R0981:Ankrd55	UTSW	13	112,459,610 (GRCm39)	missense	possibly damaging	0.78
R1072:Ankrd55	UTSW	13	112,485,376 (GRCm39)	missense	possibly damaging	0.83
R1469:Ankrd55	UTSW	13	112,504,460 (GRCm39)	missense	probably benign	0.39
R1469:Ankrd55	UTSW	13	112,504,460 (GRCm39)	missense	probably benign	0.39
R2187:Ankrd55	UTSW	13	112,520,039 (GRCm39)	missense	probably benign	0.01
R4430:Ankrd55	UTSW	13	112,459,717 (GRCm39)	critical splice donor site	probably null
R4753:Ankrd55	UTSW	13	112,500,009 (GRCm39)	missense	probably benign
R4846:Ankrd55	UTSW	13	112,499,988 (GRCm39)	missense	probably benign	0.00
R4911:Ankrd55	UTSW	13	112,459,573 (GRCm39)	splice site	probably null
R4996:Ankrd55	UTSW	13	112,492,622 (GRCm39)	missense	possibly damaging	0.68
R5007:Ankrd55	UTSW	13	112,504,466 (GRCm39)	missense	probably benign
R5077:Ankrd55	UTSW	13	112,492,522 (GRCm39)	missense	probably benign	0.19
R5118:Ankrd55	UTSW	13	112,492,473 (GRCm39)	missense	probably benign	0.00
R5350:Ankrd55	UTSW	13	112,472,760 (GRCm39)	missense	probably damaging	1.00
R5367:Ankrd55	UTSW	13	112,455,036 (GRCm39)	missense	probably damaging	1.00
R5560:Ankrd55	UTSW	13	112,520,024 (GRCm39)	missense	probably benign
R5888:Ankrd55	UTSW	13	112,492,453 (GRCm39)	missense	possibly damaging	0.62
R6130:Ankrd55	UTSW	13	112,454,980 (GRCm39)	missense	probably damaging	1.00
R6589:Ankrd55	UTSW	13	112,485,397 (GRCm39)	critical splice donor site	probably null
R6994:Ankrd55	UTSW	13	112,504,834 (GRCm39)	missense	probably benign	0.42
R7100:Ankrd55	UTSW	13	112,492,644 (GRCm39)	missense	probably benign	0.00
R7247:Ankrd55	UTSW	13	112,472,787 (GRCm39)	missense	probably damaging	0.97
R7340:Ankrd55	UTSW	13	112,492,497 (GRCm39)	missense	probably damaging	0.99
R7694:Ankrd55	UTSW	13	112,504,498 (GRCm39)	missense	probably damaging	1.00
R8053:Ankrd55	UTSW	13	112,459,687 (GRCm39)	missense	probably damaging	1.00
R8282:Ankrd55	UTSW	13	112,459,575 (GRCm39)	splice site	probably benign
R8529:Ankrd55	UTSW	13	112,480,670 (GRCm39)	missense	probably benign	0.05
R9059:Ankrd55	UTSW	13	112,455,073 (GRCm39)	missense	probably damaging	1.00
R9189:Ankrd55	UTSW	13	112,504,570 (GRCm39)	missense	probably damaging	1.00
R9332:Ankrd55	UTSW	13	112,459,677 (GRCm39)	missense	probably damaging	1.00
R9557:Ankrd55	UTSW	13	112,485,347 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACAGACAACTGACGGGAG -3'
(R):5'- GTGCAATCCACATGACATCTC -3'

Sequencing Primer
(F):5'- CGGGAGGGACATCTCTATGTAAAC -3'
(R):5'- GTGCAATCCACATGACATCTCTGTTC -3'

Posted On

2022-02-07