Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Ankef1'

288140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankef1

Ensembl Gene

ENSMUSG00000074771

Gene Name

ankyrin repeat and EF-hand domain containing 1

Synonyms

Ankrd5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

136374241-136397774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136386695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 180 (I180N)

Ref Sequence

ENSEMBL: ENSMUSP00000135947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000123214] [ENSMUST00000149712] [ENSMUST00000180246]

AlphaFold

Q9D2J7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028726
AA Change: I180N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: I180N

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121717
AA Change: I180N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: I180N

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123214
AA Change: I180N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120000
Gene: ENSMUSG00000074771
AA Change: I180N

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	4e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149712
AA Change: I180N

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114440
Gene: ENSMUSG00000074771
AA Change: I180N

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180246
AA Change: I180N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: I180N

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,561,838 (GRCm39)	F116S	probably damaging	Het
Abhd18	G	A	3: 40,884,662 (GRCm39)		probably null	Het
Akr1c6	G	T	13: 4,488,496 (GRCm39)	C34F	probably benign	Het
Ap1b1	G	A	11: 4,969,294 (GRCm39)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,223,989 (GRCm39)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,170,627 (GRCm39)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,604,250 (GRCm39)	Y1323*	probably null	Het
Bsx	A	C	9: 40,785,517 (GRCm39)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,881,764 (GRCm39)	I410V	probably null	Het
Cfhr4	T	A	1: 139,708,835 (GRCm39)	E24D	probably benign	Het
Col20a1	A	G	2: 180,648,952 (GRCm39)	D945G	probably damaging	Het
Cox20	A	G	1: 178,150,043 (GRCm39)		probably null	Het
Cplane1	A	G	15: 8,204,509 (GRCm39)	K96E	probably damaging	Het
Cpne9	A	G	6: 113,270,699 (GRCm39)	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,439,444 (GRCm39)	T33A	probably benign	Het
Dvl3	A	G	16: 20,342,493 (GRCm39)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,163,446 (GRCm39)	I1624V	possibly damaging	Het
Echs1	A	T	7: 139,691,623 (GRCm39)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,192,868 (GRCm39)	N358K	probably benign	Het
Eml4	A	G	17: 83,748,795 (GRCm39)	I230V	probably benign	Het
Fut10	A	G	8: 31,726,286 (GRCm39)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,299,483 (GRCm39)	N401K	probably damaging	Het
Gm4795	C	T	10: 44,882,735 (GRCm39)		noncoding transcript	Het
Gm5592	C	A	7: 40,936,212 (GRCm39)	T238N	probably benign	Het
Gm9892	T	C	8: 52,649,260 (GRCm39)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm39)	M134I	possibly damaging	Het
Grk3	A	G	5: 113,085,669 (GRCm39)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,368,669 (GRCm39)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,312,960 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,407,384 (GRCm39)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lmo7	C	T	14: 102,137,502 (GRCm39)		probably benign	Het
Luc7l3	C	T	11: 94,183,819 (GRCm39)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,205,515 (GRCm39)	I219S	probably benign	Het
Myo9b	G	A	8: 71,806,768 (GRCm39)	E1581K	probably damaging	Het
Nfs1	T	A	2: 155,966,191 (GRCm39)	Q458L	probably damaging	Het
Numb	A	T	12: 83,878,692 (GRCm39)		probably null	Het
Nxf1	G	A	19: 8,741,514 (GRCm39)		probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or52z1	A	G	7: 103,437,475 (GRCm39)	V3A	probably benign	Het
Pacc1	A	G	1: 191,080,605 (GRCm39)	E275G	possibly damaging	Het
Pde2a	A	T	7: 101,152,550 (GRCm39)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 110,666,505 (GRCm39)	L1011F	probably benign	Het
Potefam3e	T	C	8: 19,797,815 (GRCm39)		probably null	Het
Prss27	G	T	17: 24,264,571 (GRCm39)	V245L	probably benign	Het
Rbm7	T	C	9: 48,405,411 (GRCm39)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,343,998 (GRCm39)	I97V	possibly damaging	Het
Ric3	T	C	7: 108,647,287 (GRCm39)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm39)		probably benign	Het
Sall2	T	C	14: 52,553,022 (GRCm39)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,871,440 (GRCm39)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,050,223 (GRCm39)	A281T	probably damaging	Het
Spta1	A	G	1: 174,002,029 (GRCm39)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,900,092 (GRCm39)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,376,981 (GRCm39)	V156E	probably benign	Het
Tnfaip3	T	G	10: 18,880,215 (GRCm39)	R617S	probably benign	Het
Traf3	A	G	12: 111,204,031 (GRCm39)	M7V	probably benign	Het
Ubr3	T	A	2: 69,809,741 (GRCm39)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,718,795 (GRCm39)	V716A	probably benign	Het

Other mutations in Ankef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Ankef1	APN	2	136,394,451 (GRCm39)	missense	possibly damaging	0.87
IGL02194:Ankef1	APN	2	136,392,429 (GRCm39)	missense	probably benign	0.01
IGL02398:Ankef1	APN	2	136,397,702 (GRCm39)	missense	probably damaging	0.98
IGL02930:Ankef1	APN	2	136,392,245 (GRCm39)	missense	possibly damaging	0.79
R1482:Ankef1	UTSW	2	136,392,078 (GRCm39)	missense	possibly damaging	0.74
R1692:Ankef1	UTSW	2	136,392,346 (GRCm39)	missense	probably benign
R2045:Ankef1	UTSW	2	136,396,658 (GRCm39)	missense	probably benign	0.00
R2074:Ankef1	UTSW	2	136,387,658 (GRCm39)	missense	possibly damaging	0.62
R4952:Ankef1	UTSW	2	136,392,449 (GRCm39)	missense	probably damaging	1.00
R5057:Ankef1	UTSW	2	136,392,280 (GRCm39)	splice site	probably null
R5113:Ankef1	UTSW	2	136,394,361 (GRCm39)	missense	probably benign	0.20
R5743:Ankef1	UTSW	2	136,391,629 (GRCm39)	splice site	probably null
R6120:Ankef1	UTSW	2	136,392,296 (GRCm39)	missense	probably benign	0.04
R6243:Ankef1	UTSW	2	136,379,077 (GRCm39)	missense	probably damaging	0.96
R7456:Ankef1	UTSW	2	136,387,734 (GRCm39)	missense	probably benign	0.01
R7898:Ankef1	UTSW	2	136,395,618 (GRCm39)	missense	probably benign	0.05
R8421:Ankef1	UTSW	2	136,379,085 (GRCm39)	missense	probably damaging	1.00
R9054:Ankef1	UTSW	2	136,395,594 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16