Mutagenetix > Incidental Mutation

Incidental Mutation 'R9669:Ankrd35'

727967

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 #

R9669 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96577447-96598348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96587797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 112 (N112S)

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: N112S

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

SMART Domains

Protein: ENSMUSP00000047244
Gene: ENSMUSG00000038354
AA Change: N112S

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,026,918 (GRCm39)	K126E	possibly damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccnjl	C	A	11: 43,476,166 (GRCm39)	T263K	probably benign	Het
Cfhr4	A	T	1: 139,708,872 (GRCm39)	I12N	probably damaging	Het
Cox4i2	C	A	2: 152,602,610 (GRCm39)	N101K	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dhx57	T	C	17: 80,553,130 (GRCm39)	I1266V	probably benign	Het
Gm19410	A	G	8: 36,247,493 (GRCm39)	D435G	possibly damaging	Het
Gtf2ird1	A	G	5: 134,408,794 (GRCm39)	Y702H	probably damaging	Het
Igkv10-96	T	C	6: 68,608,957 (GRCm39)	T113A	probably benign	Het
Ngdn	A	G	14: 55,259,339 (GRCm39)	K161R	possibly damaging	Het
Or7d9	T	A	9: 20,197,160 (GRCm39)	L63H	probably damaging	Het
Pabpc4l	A	G	3: 46,401,267 (GRCm39)	S126P	probably damaging	Het
Pcdhgc4	A	G	18: 37,949,241 (GRCm39)	D219G	probably damaging	Het
Plek	A	G	11: 16,944,775 (GRCm39)	F85S	probably benign	Het
Sidt1	A	G	16: 44,102,243 (GRCm39)	Y306H	probably damaging	Het
Trav13-1	A	T	14: 53,782,510 (GRCm39)	T14S	probably benign	Het
Tst	T	C	15: 78,289,853 (GRCm39)	I61V	probably benign	Het
Txndc2	T	C	17: 65,945,583 (GRCm39)	E198G	probably damaging	Het
Uba6	T	C	5: 86,268,499 (GRCm39)	I910V	probably benign	Het
Zfyve16	A	G	13: 92,656,007 (GRCm39)	V784A	probably damaging	Het
Zkscan5	A	G	5: 145,142,136 (GRCm39)	H11R	probably benign	Het

Other mutations in Ankrd35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Ankrd35	APN	3	96,590,350 (GRCm39)	splice site	probably null
IGL00896:Ankrd35	APN	3	96,591,592 (GRCm39)	missense	probably damaging	1.00
IGL01565:Ankrd35	APN	3	96,592,101 (GRCm39)	missense	probably damaging	0.99
IGL01837:Ankrd35	APN	3	96,587,982 (GRCm39)	missense	probably damaging	1.00
IGL02605:Ankrd35	APN	3	96,588,388 (GRCm39)	splice site	probably null
IGL02819:Ankrd35	APN	3	96,597,524 (GRCm39)	missense	possibly damaging	0.80
IGL02994:Ankrd35	APN	3	96,590,307 (GRCm39)	splice site	probably benign
IGL03083:Ankrd35	APN	3	96,592,117 (GRCm39)	missense	probably damaging	1.00
IGL03105:Ankrd35	APN	3	96,591,373 (GRCm39)	missense	probably benign
FR4304:Ankrd35	UTSW	3	96,591,163 (GRCm39)	utr 3 prime	probably benign
FR4342:Ankrd35	UTSW	3	96,590,831 (GRCm39)	frame shift	probably null
FR4737:Ankrd35	UTSW	3	96,591,165 (GRCm39)	utr 3 prime	probably benign
R0003:Ankrd35	UTSW	3	96,591,331 (GRCm39)	missense	probably damaging	1.00
R0047:Ankrd35	UTSW	3	96,591,379 (GRCm39)	missense	probably benign	0.00
R0551:Ankrd35	UTSW	3	96,591,276 (GRCm39)	missense	probably benign	0.08
R1420:Ankrd35	UTSW	3	96,592,054 (GRCm39)	missense	probably benign	0.13
R1455:Ankrd35	UTSW	3	96,585,471 (GRCm39)	missense	probably damaging	1.00
R2201:Ankrd35	UTSW	3	96,586,564 (GRCm39)	missense	possibly damaging	0.93
R3522:Ankrd35	UTSW	3	96,592,378 (GRCm39)	missense	probably damaging	1.00
R3605:Ankrd35	UTSW	3	96,589,497 (GRCm39)	nonsense	probably null
R4166:Ankrd35	UTSW	3	96,586,471 (GRCm39)	splice site	probably null
R4651:Ankrd35	UTSW	3	96,591,343 (GRCm39)	missense	probably benign	0.00
R4668:Ankrd35	UTSW	3	96,586,524 (GRCm39)	missense	probably damaging	1.00
R4916:Ankrd35	UTSW	3	96,591,438 (GRCm39)	missense	probably benign
R4921:Ankrd35	UTSW	3	96,592,140 (GRCm39)	missense	possibly damaging	0.61
R4953:Ankrd35	UTSW	3	96,590,989 (GRCm39)	missense	possibly damaging	0.56
R5180:Ankrd35	UTSW	3	96,587,789 (GRCm39)	missense	probably damaging	1.00
R5583:Ankrd35	UTSW	3	96,592,219 (GRCm39)	missense	probably damaging	1.00
R5604:Ankrd35	UTSW	3	96,592,215 (GRCm39)	missense	probably benign	0.02
R5613:Ankrd35	UTSW	3	96,590,334 (GRCm39)	missense	possibly damaging	0.76
R6165:Ankrd35	UTSW	3	96,590,623 (GRCm39)	missense	possibly damaging	0.93
R6413:Ankrd35	UTSW	3	96,592,129 (GRCm39)	missense	probably damaging	0.96
R6711:Ankrd35	UTSW	3	96,590,784 (GRCm39)	nonsense	probably null
R6834:Ankrd35	UTSW	3	96,590,599 (GRCm39)	missense	possibly damaging	0.68
R6841:Ankrd35	UTSW	3	96,577,742 (GRCm39)	missense	probably damaging	1.00
R7028:Ankrd35	UTSW	3	96,590,650 (GRCm39)	missense	possibly damaging	0.92
R7396:Ankrd35	UTSW	3	96,590,813 (GRCm39)	missense	probably damaging	1.00
R7425:Ankrd35	UTSW	3	96,592,104 (GRCm39)	missense	not run
R7815:Ankrd35	UTSW	3	96,592,117 (GRCm39)	missense	probably damaging	1.00
R7887:Ankrd35	UTSW	3	96,592,216 (GRCm39)	missense	probably damaging	1.00
R8103:Ankrd35	UTSW	3	96,586,997 (GRCm39)	missense	possibly damaging	0.93
R8318:Ankrd35	UTSW	3	96,592,038 (GRCm39)	missense	probably damaging	1.00
R8492:Ankrd35	UTSW	3	96,589,529 (GRCm39)	critical splice donor site	probably null
R8527:Ankrd35	UTSW	3	96,589,353 (GRCm39)	missense	probably damaging	1.00
R8542:Ankrd35	UTSW	3	96,589,353 (GRCm39)	missense	probably damaging	1.00
R8742:Ankrd35	UTSW	3	96,586,502 (GRCm39)	missense	probably damaging	1.00
R8963:Ankrd35	UTSW	3	96,587,003 (GRCm39)	nonsense	probably null
R9029:Ankrd35	UTSW	3	96,591,460 (GRCm39)	missense	probably benign	0.43
R9229:Ankrd35	UTSW	3	96,592,215 (GRCm39)	missense	probably benign	0.02
R9488:Ankrd35	UTSW	3	96,589,343 (GRCm39)	missense	probably damaging	1.00
R9761:Ankrd35	UTSW	3	96,591,733 (GRCm39)	missense	possibly damaging	0.80
Z1177:Ankrd35	UTSW	3	96,591,086 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTCCTGGTCTTTTCCAAAGG -3'
(R):5'- ACACAGCAGGAGGACACTTG -3'

Sequencing Primer
(F):5'- TTTCCAAAGGCCCTAGTTAGG -3'
(R):5'- GGACACTTGAGGCGCAG -3'

Posted On

2022-10-06