Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Ankrd35'

609102

Institutional Source

Beutler Lab

Gene Symbol

Ankrd35

Ensembl Gene

ENSMUSG00000038354

Gene Name

ankyrin repeat domain 35

Synonyms

4732436F15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96670131-96691032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96684900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 834 (T834M)

Ref Sequence

ENSEMBL: ENSMUSP00000047244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048427] [ENSMUST00000122960]

AlphaFold

E9Q9D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048427
AA Change: T834M

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

SMART Domains

Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: T834M

Domain	Start	End	E-Value	Type
ANK	53	82	4.03e-5	SMART
ANK	86	115	6.46e-4	SMART
ANK	119	148	4.36e-1	SMART
ANK	152	181	1.4e-4	SMART
ANK	185	214	2.25e-3	SMART
ANK	218	247	6.24e2	SMART
coiled coil region	294	339	N/A	INTRINSIC
low complexity region	438	455	N/A	INTRINSIC
low complexity region	487	498	N/A	INTRINSIC
low complexity region	524	536	N/A	INTRINSIC
coiled coil region	606	653	N/A	INTRINSIC
coiled coil region	729	799	N/A	INTRINSIC
low complexity region	815	829	N/A	INTRINSIC
coiled coil region	847	956	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122960

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343	I580N	probably damaging	Het
Astn2	C	T	4: 65,644,866	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501	Y197H	probably benign	Het
Brdt	T	C	5: 107,359,933	S676P	possibly damaging	Het
Chrdl2	T	C	7: 100,029,250	V343A	possibly damaging	Het
Clcn3	A	T	8: 60,941,399	M59K	probably benign	Het
Cpne4	A	T	9: 105,032,791	N529I	probably damaging	Het
Crcp	G	T	5: 130,037,870	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,627,203	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,599,657	S118P	possibly damaging	Het
Egr3	A	G	14: 70,079,202	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,649,594		probably null	Het
Focad	T	G	4: 88,182,616	I313M	probably damaging	Het
Gm10272	C	T	10: 77,706,945	P107L	probably benign	Het
Gpr26	A	C	7: 131,966,973	I16L	probably benign	Het
Gpr39	C	A	1: 125,677,542	T69K	probably damaging	Het
Hacl1	C	T	14: 31,634,227	G97S	probably damaging	Het
Idh3b	A	C	2: 130,281,758	D136E	probably damaging	Het
Irf6	G	A	1: 193,167,732	V321M	probably damaging	Het
Klrg2	T	A	6: 38,636,571	T166S	probably damaging	Het
Lnx2	T	C	5: 147,019,043	I648V	probably damaging	Het
Mecr	A	G	4: 131,860,866		probably null	Het
Mnat1	T	A	12: 73,188,191	S205T	probably benign	Het
Mpnd	G	A	17: 56,011,097	G204D	probably benign	Het
Myh7	C	T	14: 54,983,662	E935K	possibly damaging	Het
Nid1	G	T	13: 13,499,733	R899L	possibly damaging	Het
Nisch	C	T	14: 31,176,695	W664*	probably null	Het
Nudt6	C	T	3: 37,412,380	V157I	possibly damaging	Het
Olfr1156	T	C	2: 87,949,880	M118V	probably damaging	Het
Olfr573-ps1	A	C	7: 102,942,151	L142R	possibly damaging	Het
Olfr949-ps1	A	T	9: 39,364,879	M107L	unknown	Het
Onecut2	T	A	18: 64,340,975	M180K	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Phf11d	A	G	14: 59,359,580	Y57H	probably damaging	Het
Prkaca	T	C	8: 83,986,895	V99A	probably benign	Het
Rnf144b	T	A	13: 47,239,811	C209S	probably damaging	Het
Scly	G	A	1: 91,300,641		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sphkap	T	C	1: 83,277,412	Y872C	probably benign	Het
Ssh1	C	T	5: 113,961,349		probably null	Het
Strap	T	G	6: 137,739,809	L129V	possibly damaging	Het
Sympk	T	C	7: 19,034,439	I111T	possibly damaging	Het
Tprn	C	A	2: 25,264,012	A442E	probably damaging	Het
Tsen34	T	C	7: 3,694,708	L36P	probably damaging	Het
Ubr4	T	C	4: 139,407,810	F818L	probably damaging	Het
Uggt1	T	C	1: 36,208,034	Y294C	probably damaging	Het
Usp20	A	G	2: 31,020,894	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,474,786	I57F	probably damaging	Het
Wdr64	C	T	1: 175,785,545	A662V	not run	Het

Other mutations in Ankrd35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Ankrd35	APN	3	96683034	splice site	probably null
IGL00896:Ankrd35	APN	3	96684276	missense	probably damaging	1.00
IGL01565:Ankrd35	APN	3	96684785	missense	probably damaging	0.99
IGL01837:Ankrd35	APN	3	96680666	missense	probably damaging	1.00
IGL02605:Ankrd35	APN	3	96681072	splice site	probably null
IGL02819:Ankrd35	APN	3	96690208	missense	possibly damaging	0.80
IGL02994:Ankrd35	APN	3	96682991	splice site	probably benign
IGL03083:Ankrd35	APN	3	96684801	missense	probably damaging	1.00
IGL03105:Ankrd35	APN	3	96684057	missense	probably benign
FR4304:Ankrd35	UTSW	3	96683847	utr 3 prime	probably benign
FR4342:Ankrd35	UTSW	3	96683515	frame shift	probably null
FR4737:Ankrd35	UTSW	3	96683849	utr 3 prime	probably benign
R0003:Ankrd35	UTSW	3	96684015	missense	probably damaging	1.00
R0047:Ankrd35	UTSW	3	96684063	missense	probably benign	0.00
R0551:Ankrd35	UTSW	3	96683960	missense	probably benign	0.08
R1420:Ankrd35	UTSW	3	96684738	missense	probably benign	0.13
R1455:Ankrd35	UTSW	3	96678155	missense	probably damaging	1.00
R2201:Ankrd35	UTSW	3	96679248	missense	possibly damaging	0.93
R3522:Ankrd35	UTSW	3	96685062	missense	probably damaging	1.00
R3605:Ankrd35	UTSW	3	96682181	nonsense	probably null
R4166:Ankrd35	UTSW	3	96679155	splice site	probably null
R4651:Ankrd35	UTSW	3	96684027	missense	probably benign	0.00
R4668:Ankrd35	UTSW	3	96679208	missense	probably damaging	1.00
R4916:Ankrd35	UTSW	3	96684122	missense	probably benign
R4921:Ankrd35	UTSW	3	96684824	missense	possibly damaging	0.61
R4953:Ankrd35	UTSW	3	96683673	missense	possibly damaging	0.56
R5180:Ankrd35	UTSW	3	96680473	missense	probably damaging	1.00
R5583:Ankrd35	UTSW	3	96684903	missense	probably damaging	1.00
R5604:Ankrd35	UTSW	3	96684899	missense	probably benign	0.02
R5613:Ankrd35	UTSW	3	96683018	missense	possibly damaging	0.76
R6165:Ankrd35	UTSW	3	96683307	missense	possibly damaging	0.93
R6413:Ankrd35	UTSW	3	96684813	missense	probably damaging	0.96
R6711:Ankrd35	UTSW	3	96683468	nonsense	probably null
R6834:Ankrd35	UTSW	3	96683283	missense	possibly damaging	0.68
R6841:Ankrd35	UTSW	3	96670426	missense	probably damaging	1.00
R7028:Ankrd35	UTSW	3	96683334	missense	possibly damaging	0.92
R7396:Ankrd35	UTSW	3	96683497	missense	probably damaging	1.00
R7425:Ankrd35	UTSW	3	96684788	missense	not run
R7815:Ankrd35	UTSW	3	96684801	missense	probably damaging	1.00
R8103:Ankrd35	UTSW	3	96679681	missense	possibly damaging	0.93
R8318:Ankrd35	UTSW	3	96684722	missense	probably damaging	1.00
R8492:Ankrd35	UTSW	3	96682213	critical splice donor site	probably null
R8527:Ankrd35	UTSW	3	96682037	missense	probably damaging	1.00
R8542:Ankrd35	UTSW	3	96682037	missense	probably damaging	1.00
R8742:Ankrd35	UTSW	3	96679186	missense	probably damaging	1.00
R8963:Ankrd35	UTSW	3	96679687	nonsense	probably null
R9029:Ankrd35	UTSW	3	96684144	missense	probably benign	0.43
R9229:Ankrd35	UTSW	3	96684899	missense	probably benign	0.02
R9488:Ankrd35	UTSW	3	96682027	missense	probably damaging	1.00
R9669:Ankrd35	UTSW	3	96680481	missense	probably damaging	1.00
R9761:Ankrd35	UTSW	3	96684417	missense	possibly damaging	0.80
Z1177:Ankrd35	UTSW	3	96683770	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCTCAAGGTTACAGCATCCC -3'
(R):5'- TTTCTCGAACTGCTCCGAGC -3'

Sequencing Primer
(F):5'- GTTACAGCATCCCCGCAAGTG -3'
(R):5'- GCATCTCGCCAGCCTGG -3'

Posted On

2019-12-20