Mutagenetix > Incidental Mutation

Incidental Mutation 'R7694:Ankrd55'

593570

Institutional Source

Beutler Lab

Gene Symbol

Ankrd55

Ensembl Gene

ENSMUSG00000049985

Gene Name

ankyrin repeat domain 55

Synonyms

C030011J08Rik

MMRRC Submission

045757-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112424985-112520536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112504498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 415 (Y415H)

Ref Sequence

ENSEMBL: ENSMUSP00000022275 (fasta)

Gene Model

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

AlphaFold

Q8BLD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022275
AA Change: Y415H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: Y415H

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

probably damaging
Transcript: ENSMUST00000165593
AA Change: Y387H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: Y387H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	G	17: 14,109,144 (GRCm39)	S1571A	probably damaging	Het
Agbl1	C	A	7: 76,348,513 (GRCm39)	A870D	unknown	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Cd69	G	A	6: 129,247,008 (GRCm39)	R111C	possibly damaging	Het
Cdh26	A	T	2: 178,101,896 (GRCm39)	T172S	probably damaging	Het
Cflar	T	A	1: 58,791,966 (GRCm39)	V423E		Het
Cgrrf1	A	C	14: 47,091,415 (GRCm39)	Q313P	possibly damaging	Het
Chga	G	A	12: 102,527,606 (GRCm39)	A87T	probably benign	Het
Chrna4	T	A	2: 180,660,386 (GRCm39)	D102V		Het
Cpvl	A	T	6: 53,909,502 (GRCm39)	Y211*	probably null	Het
Cyp26a1	G	A	19: 37,689,512 (GRCm39)	D403N	possibly damaging	Het
Dchs2	T	C	3: 83,036,789 (GRCm39)	L512P	probably damaging	Het
Dll3	A	C	7: 28,001,170 (GRCm39)	M1R	probably null	Het
Dnah12	A	G	14: 26,503,337 (GRCm39)	T1564A	probably damaging	Het
Efhb	A	G	17: 53,707,836 (GRCm39)	S776P	probably damaging	Het
Eml5	T	C	12: 98,758,822 (GRCm39)	S1831G	probably damaging	Het
Fat1	G	T	8: 45,441,967 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,632,375 (GRCm39)	K1255E	probably benign	Het
Fitm2	C	T	2: 163,311,892 (GRCm39)	C107Y	probably damaging	Het
Gdpd4	T	C	7: 97,621,146 (GRCm39)	V153A	probably benign	Het
Ggnbp2	A	G	11: 84,751,539 (GRCm39)	V87A	possibly damaging	Het
Glb1l	G	T	1: 75,178,436 (GRCm39)	A334E	probably damaging	Het
Gnas	T	G	2: 174,142,005 (GRCm39)	L784R	probably damaging	Het
Gtf2i	C	T	5: 134,311,659 (GRCm39)	E223K	probably damaging	Het
H2-M10.5	T	C	17: 37,084,641 (GRCm39)	Y122H	probably damaging	Het
Hikeshi	G	A	7: 89,579,554 (GRCm39)	Q6*	probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Irak2	A	C	6: 113,667,859 (GRCm39)	D528A	probably damaging	Het
Lcn2	A	G	2: 32,278,042 (GRCm39)	C17R	unknown	Het
Lcp2	G	T	11: 34,000,924 (GRCm39)	V36L	probably benign	Het
Lin7c	T	C	2: 109,726,617 (GRCm39)	S89P	probably benign	Het
Lrrc37a	C	T	11: 103,395,204 (GRCm39)	A74T	probably benign	Het
Lrrtm3	T	A	10: 63,923,818 (GRCm39)	M450L	probably benign	Het
Lsm11	C	T	11: 45,824,768 (GRCm39)	R253Q	probably benign	Het
Map9	A	T	3: 82,266,290 (GRCm39)		probably benign	Het
Mmp2	T	A	8: 93,558,358 (GRCm39)	D142E	possibly damaging	Het
Nrn1l	A	T	8: 106,621,430 (GRCm39)	T127S	probably damaging	Het
Or14c46	T	C	7: 85,918,983 (GRCm39)	T5A	probably damaging	Het
Pelp1	G	A	11: 70,285,585 (GRCm39)	T761I	probably damaging	Het
Pmm2	T	A	16: 8,463,254 (GRCm39)	V63E	probably damaging	Het
Ptprb	T	A	10: 116,208,853 (GRCm39)	L1942H	probably damaging	Het
Ptprk	T	A	10: 28,465,366 (GRCm39)	C1350S	possibly damaging	Het
Rnf44	A	G	13: 54,829,841 (GRCm39)	V381A	probably damaging	Het
Robo3	G	A	9: 37,329,816 (GRCm39)	P1167S	probably benign	Het
Ryk	A	G	9: 102,775,979 (GRCm39)	E489G	probably damaging	Het
Satb2	T	A	1: 56,910,683 (GRCm39)	I321L	probably benign	Het
Sh2b1	A	T	7: 126,066,929 (GRCm39)	V655E	probably benign	Het
Slc16a12	G	A	19: 34,648,035 (GRCm39)	T486M	probably damaging	Het
Slc34a1	G	T	13: 55,561,221 (GRCm39)	R562L	probably benign	Het
Slc4a9	A	G	18: 36,669,902 (GRCm39)	E779G	probably damaging	Het
Strc	C	A	2: 121,207,577 (GRCm39)	C598F	probably damaging	Het
Stxbp6	A	T	12: 44,948,810 (GRCm39)	F100I	probably damaging	Het
Tap2	A	G	17: 34,424,671 (GRCm39)	T135A	probably benign	Het
Tmcc1	G	A	6: 116,110,805 (GRCm39)	P159S		Het
Tmem106b	T	A	6: 13,078,105 (GRCm39)	M100K	probably benign	Het
Ttn	T	A	2: 76,578,039 (GRCm39)	T24285S	probably damaging	Het
Vmn1r116	G	A	7: 20,606,337 (GRCm39)	V53M	possibly damaging	Het
Zar1	A	T	5: 72,738,193 (GRCm39)	S70T	probably benign	Het
Zfp235	C	T	7: 23,841,525 (GRCm39)	T648M	probably benign	Het
Zfp937	C	T	2: 150,081,268 (GRCm39)	H433Y	probably damaging	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
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
R9176:Ankrd55	UTSW	13	112,459,610 (GRCm39)	missense	possibly damaging	0.78
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'- GACGATTCAGCATGCTCAAC -3'
(R):5'- CGACTTTTCTGAGAACGCTGG -3'

Sequencing Primer
(F):5'- GCATGCTCAACCAAATCTTCTG -3'
(R):5'- AACGCTGGGCAGTATGCTG -3'

Posted On

2019-11-12