Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02488:Ankrd34a'

295526

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd34a

Ensembl Gene

ENSMUSG00000049097

Gene Name

ankyrin repeat domain 34A

Synonyms

Ankrd34

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

IGL02488

Quality Score

Status

Chromosome

Chromosomal Location

96503952-96507091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96506229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 478 (I478V)

Ref Sequence

ENSEMBL: ENSMUSP00000102707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058943] [ENSMUST00000062058] [ENSMUST00000091924] [ENSMUST00000145001]

AlphaFold

B2RW11

Predicted Effect

probably benign
Transcript: ENSMUST00000058943
AA Change: I478V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102707
Gene: ENSMUSG00000049097
AA Change: I478V

Domain	Start	End	E-Value	Type
ANK	4	33	9.05e2	SMART
ANK	37	72	2.81e-4	SMART
ANK	76	106	5.84e-2	SMART
ANK	110	139	7.99e2	SMART
low complexity region	216	244	N/A	INTRINSIC
low complexity region	350	366	N/A	INTRINSIC
low complexity region	431	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062058

SMART Domains

Protein: ENSMUSP00000057623
Gene: ENSMUSG00000049288

Domain	Start	End	E-Value	Type
Pfam:LIX1	80	328	8.9e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091924

SMART Domains

Protein: ENSMUSP00000089544
Gene: ENSMUSG00000028104

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	217	2.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145001

SMART Domains

Protein: ENSMUSP00000118943
Gene: ENSMUSG00000028104

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	148	4.4e-31	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	C	T	8: 25,282,022 (GRCm39)	D417N	probably damaging	Het
Akr1d1	A	T	6: 37,544,095 (GRCm39)	E324D	probably benign	Het
C8b	A	G	4: 104,661,278 (GRCm39)	H498R	probably benign	Het
Cct6a	T	G	5: 129,866,885 (GRCm39)		probably benign	Het
Enpp7	C	A	11: 118,879,640 (GRCm39)	T98N	probably damaging	Het
Fcna	A	T	2: 25,515,223 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,715,451 (GRCm39)	Y31H	probably benign	Het
Gzme	A	T	14: 56,355,849 (GRCm39)	N154K	probably benign	Het
Hectd4	T	C	5: 121,430,150 (GRCm39)	V849A	probably benign	Het
Hps1	C	T	19: 42,746,227 (GRCm39)		probably benign	Het
Incenp	A	T	19: 9,870,771 (GRCm39)	I286N	unknown	Het
Matn1	G	T	4: 130,671,804 (GRCm39)	V24F	probably benign	Het
Mcm3ap	A	G	10: 76,335,483 (GRCm39)	T1302A	probably damaging	Het
Megf10	A	G	18: 57,425,704 (GRCm39)	Y1030C	probably damaging	Het
Mpdu1	T	C	11: 69,549,435 (GRCm39)	T87A	probably damaging	Het
Or1j18	T	A	2: 36,624,362 (GRCm39)	S10T	probably benign	Het
Or52h1	T	A	7: 103,829,478 (GRCm39)	I46F	possibly damaging	Het
Pde6h	A	G	6: 136,940,264 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,421,993 (GRCm39)	I3088V	probably benign	Het
Plec	G	T	15: 76,063,359 (GRCm39)	T2259K	possibly damaging	Het
Ptch2	C	T	4: 116,967,593 (GRCm39)	R754C	probably damaging	Het
Ptpn12	T	C	5: 21,227,060 (GRCm39)	T81A	possibly damaging	Het
Sars2	C	T	7: 28,441,585 (GRCm39)	R49*	probably null	Het
Scyl1	G	T	19: 5,820,341 (GRCm39)	Y164*	probably null	Het
Smarcd1	T	C	15: 99,609,082 (GRCm39)	C419R	possibly damaging	Het
Syne2	C	A	12: 76,012,512 (GRCm39)	R2568S	probably benign	Het
Tap2	A	G	17: 34,433,616 (GRCm39)		probably benign	Het
Thrb	T	A	14: 18,033,455 (GRCm38)	I406K	probably damaging	Het
Tnn	T	A	1: 159,968,163 (GRCm39)	I410F	probably benign	Het
Tns2	T	C	15: 102,021,178 (GRCm39)	S940P	probably benign	Het
Trav6-2	A	G	14: 52,905,243 (GRCm39)	K88R	probably benign	Het
Ttbk2	T	C	2: 120,586,352 (GRCm39)	M386V	probably benign	Het
Vldlr	A	G	19: 27,215,675 (GRCm39)	E224G	probably damaging	Het
Vmn1r46	T	A	6: 89,953,963 (GRCm39)	C271S	probably benign	Het
Zfhx2	T	C	14: 55,302,560 (GRCm39)	E1808G	possibly damaging	Het
Zfp385a	A	G	15: 103,228,733 (GRCm39)	I42T	probably damaging	Het

Other mutations in Ankrd34a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0190:Ankrd34a	UTSW	3	96,505,105 (GRCm39)	missense	probably damaging	0.99
R1940:Ankrd34a	UTSW	3	96,505,992 (GRCm39)	missense	probably benign	0.28
R3779:Ankrd34a	UTSW	3	96,506,247 (GRCm39)	missense	possibly damaging	0.85
R5427:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R5429:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R5430:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R6129:Ankrd34a	UTSW	3	96,505,274 (GRCm39)	nonsense	probably null
R6621:Ankrd34a	UTSW	3	96,505,531 (GRCm39)	missense	possibly damaging	0.91
R6891:Ankrd34a	UTSW	3	96,505,335 (GRCm39)	missense	probably benign	0.00
R6951:Ankrd34a	UTSW	3	96,505,738 (GRCm39)	missense	possibly damaging	0.77
R7085:Ankrd34a	UTSW	3	96,505,945 (GRCm39)	missense	probably benign
R7478:Ankrd34a	UTSW	3	96,505,816 (GRCm39)	missense	possibly damaging	0.65
R8257:Ankrd34a	UTSW	3	96,505,045 (GRCm39)	missense	possibly damaging	0.93
R8746:Ankrd34a	UTSW	3	96,504,791 (GRCm39)	unclassified	probably benign
R9511:Ankrd34a	UTSW	3	96,505,401 (GRCm39)	missense	probably benign	0.41

Posted On

2015-04-16