Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Ankib1'

687127

Institutional Source

Beutler Lab

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3690000-3802925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3769641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 93 (I93V)

Ref Sequence

ENSEMBL: ENSMUSP00000040946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000200335]

AlphaFold

Q6ZPS6

Predicted Effect

probably benign
Transcript: ENSMUST00000043551
AA Change: I93V

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: I93V

Domain	Start	End	E-Value	Type
ANK	45	75	7.08e-1	SMART
ANK	145	174	2.32e-5	SMART
low complexity region	209	219	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
RING	334	382	9.73e-2	SMART
IBR	403	479	8.72e-12	SMART
IBR	502	566	2.59e-5	SMART
RING	520	644	2.36e0	SMART
low complexity region	764	773	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
UIM	846	865	3.62e-1	SMART
low complexity region	905	917	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200335
AA Change: I93V

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: I93V

Domain	Start	End	E-Value	Type
ANK	45	75	4.5e-3	SMART
ANK	145	174	1.4e-7	SMART
low complexity region	209	219	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
RING	334	382	4.6e-4	SMART
IBR	403	479	2.9e-14	SMART
IBR	502	566	8.3e-8	SMART
RING	520	644	1.1e-2	SMART
low complexity region	768	779	N/A	INTRINSIC

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	C	T	13: 63,296,867	R752*	probably null	Het
5031439G07Rik	C	T	15: 84,960,581	M78I	probably benign	Het
Abca8b	C	T	11: 109,957,247	V803M	probably benign	Het
Acap1	T	C	11: 69,881,665	E728G	probably damaging	Het
Afg1l	G	A	10: 42,318,641	T385M	probably damaging	Het
Apoa4	T	A	9: 46,242,977	L292Q	probably damaging	Het
Arhgap29	T	A	3: 122,014,600	D1142E	probably benign	Het
Asb5	A	T	8: 54,585,894	D265V	probably benign	Het
Ash1l	C	T	3: 88,981,987	A391V	probably benign	Het
Ash1l	T	C	3: 88,984,222	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,638,505	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dmtn	A	G	14: 70,616,094	S92P	probably damaging	Het
Edc4	T	C	8: 105,887,007	F353S	probably damaging	Het
Emc1	T	C	4: 139,367,163	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064		probably null	Het
Fat1	A	T	8: 45,039,857	N3872I	probably benign	Het
Fer	T	A	17: 63,921,772	M214K	probably damaging	Het
Fgf17	A	G	14: 70,636,996	F129L	probably damaging	Het
Fnbp1	T	C	2: 31,083,005	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,292,373	S993A	probably benign	Het
Gm11397	T	C	13: 33,397,798	Y113H	probably damaging	Het
Hsh2d	T	C	8: 72,200,541	S256P	probably benign	Het
Il31ra	T	C	13: 112,524,094	S654G		Het
Lmnb2	T	C	10: 80,904,257	D442G	probably benign	Het
Med19	A	G	2: 84,685,316	M115V	probably damaging	Het
Mkl2	A	C	16: 13,412,228	T926P	probably damaging	Het
Mroh5	T	C	15: 73,783,453	Y641C	probably benign	Het
Mrpl18	A	T	17: 12,915,695	V61E	probably damaging	Het
Mtap	AC	A	4: 89,172,278		probably null	Het
Muc2	T	A	7: 141,700,489	C154S	probably damaging	Het
Mypn	T	G	10: 63,148,115		probably null	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nes	T	G	3: 87,979,762	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,278,557	I132T	probably damaging	Het
Oxr1	G	A	15: 41,854,921	V798I	probably benign	Het
Papss1	C	A	3: 131,619,056	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,694,069	N2344S	probably benign	Het
Pfas	C	T	11: 68,988,595	G263S		Het
Pknox1	C	T	17: 31,603,255	T332M	possibly damaging	Het
Plch2	T	C	4: 155,000,519	D321G	probably damaging	Het
Pnma1	T	C	12: 84,147,032	N299S	probably benign	Het
Psg23	T	G	7: 18,614,735	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,221,950	F97S	probably damaging	Het
Rbl1	A	G	2: 157,193,153	F336L	probably benign	Het
Rpap1	G	A	2: 119,778,295	P143S	probably benign	Het
Rsph6a	A	T	7: 19,065,325	N294Y	probably damaging	Het
Sesn1	C	T	10: 41,810,839		probably benign	Het
Sh3d19	T	C	3: 86,126,685	Y782H	probably damaging	Het
Siglecg	T	C	7: 43,411,625	V374A	probably benign	Het
Slc35d2	A	G	13: 64,108,413	F156S	probably damaging	Het
Slc6a11	A	T	6: 114,225,847	I301F	probably damaging	Het
Slx4ip	A	G	2: 137,068,320	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,737,364	V208E	probably benign	Het
Tmem132a	G	T	19: 10,866,471	Q174K	probably damaging	Het
Tmem136	C	T	9: 43,111,369	R230Q	probably benign	Het
Tmtc1	A	T	6: 148,336,251	Y338*	probably null	Het
Vav3	C	T	3: 109,506,406	A220V	probably benign	Het
Wt1	C	A	2: 105,126,815	Q7K	probably benign	Het
Zbtb4	T	A	11: 69,781,824	F204L	probably benign	Het
Zfp51	T	A	17: 21,464,398	L425H	probably damaging	Het

Other mutations in Ankib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Ankib1	APN	5	3727573	missense	probably benign	0.20
IGL01329:Ankib1	APN	5	3734194	splice site	probably benign
IGL01372:Ankib1	APN	5	3772594	missense	probably damaging	1.00
IGL01593:Ankib1	APN	5	3732590	missense	probably benign	0.00
IGL01613:Ankib1	APN	5	3713146	nonsense	probably null
IGL01728:Ankib1	APN	5	3701992	splice site	probably benign
IGL01782:Ankib1	APN	5	3727607	missense	probably damaging	1.00
IGL01878:Ankib1	APN	5	3734152	missense	possibly damaging	0.69
IGL02730:Ankib1	APN	5	3702995	missense	probably damaging	1.00
IGL02742:Ankib1	APN	5	3693479	missense	probably benign	0.04
IGL02873:Ankib1	APN	5	3772619	missense	probably damaging	1.00
R0033:Ankib1	UTSW	5	3769588	missense	possibly damaging	0.52
R0242:Ankib1	UTSW	5	3700344	splice site	probably benign
R0564:Ankib1	UTSW	5	3729655	missense	probably damaging	0.99
R0632:Ankib1	UTSW	5	3772529	missense	probably benign	0.02
R0732:Ankib1	UTSW	5	3713163	missense	possibly damaging	0.89
R1678:Ankib1	UTSW	5	3706301	missense	probably damaging	0.99
R1816:Ankib1	UTSW	5	3734028	missense	probably benign	0.05
R2165:Ankib1	UTSW	5	3713210	missense	possibly damaging	0.69
R3434:Ankib1	UTSW	5	3692760	missense	probably damaging	1.00
R3749:Ankib1	UTSW	5	3734097	missense	probably damaging	0.98
R4745:Ankib1	UTSW	5	3732566	missense	probably damaging	1.00
R4827:Ankib1	UTSW	5	3701907	missense	probably damaging	1.00
R4983:Ankib1	UTSW	5	3769652	missense	probably benign	0.09
R4989:Ankib1	UTSW	5	3713217	missense	probably damaging	0.99
R5022:Ankib1	UTSW	5	3734011	missense	possibly damaging	0.96
R5057:Ankib1	UTSW	5	3734011	missense	possibly damaging	0.96
R5510:Ankib1	UTSW	5	3729693	missense	probably benign	0.02
R5606:Ankib1	UTSW	5	3701907	missense	probably damaging	1.00
R5910:Ankib1	UTSW	5	3693217	missense	probably benign
R5929:Ankib1	UTSW	5	3769633	missense	possibly damaging	0.86
R5986:Ankib1	UTSW	5	3747071	missense	probably damaging	1.00
R6281:Ankib1	UTSW	5	3701965	missense	possibly damaging	0.70
R6336:Ankib1	UTSW	5	3700377	nonsense	probably null
R6377:Ankib1	UTSW	5	3693855	missense	possibly damaging	0.78
R7001:Ankib1	UTSW	5	3694781	missense	probably benign
R7264:Ankib1	UTSW	5	3755739	missense	probably damaging	1.00
R7380:Ankib1	UTSW	5	3722576	missense	probably benign	0.03
R7402:Ankib1	UTSW	5	3769586	missense	probably benign	0.01
R7491:Ankib1	UTSW	5	3701911	missense	probably damaging	1.00
R7525:Ankib1	UTSW	5	3755734	missense	possibly damaging	0.95
R7562:Ankib1	UTSW	5	3747021	missense	probably null	1.00
R8116:Ankib1	UTSW	5	3702995	missense	probably damaging	1.00
R8347:Ankib1	UTSW	5	3747065	missense	probably damaging	1.00
R8712:Ankib1	UTSW	5	3772643	missense	probably benign	0.03
R8750:Ankib1	UTSW	5	3702890	critical splice donor site	probably null
R8854:Ankib1	UTSW	5	3727489	missense	probably null	0.97
R9180:Ankib1	UTSW	5	3706276	missense	probably damaging	1.00
R9325:Ankib1	UTSW	5	3772523	missense	possibly damaging	0.81
R9474:Ankib1	UTSW	5	3755617	missense	probably damaging	0.98
R9504:Ankib1	UTSW	5	3713235	missense	probably benign
R9564:Ankib1	UTSW	5	3755733	missense	possibly damaging	0.87
Z1088:Ankib1	UTSW	5	3713136	missense	probably damaging	1.00
Z1088:Ankib1	UTSW	5	3713137	nonsense	probably null
Z1176:Ankib1	UTSW	5	3692763	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACACAGGCTTTCATCCCCG -3'
(R):5'- GTGACACACCTCAATAGAAATTGG -3'

Sequencing Primer
(F):5'- TTTCATCCCCGAGGCTGCAG -3'
(R):5'- CACCTCAATAGAAATTGGACTTTAGC -3'

Posted On

2021-11-19