Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Ankib1'

431136

Institutional Source

Beutler Lab

Gene Symbol

Ankib1

Ensembl Gene

ENSMUSG00000040351

Gene Name

ankyrin repeat and IBR domain containing 1

Synonyms

2310061P20Rik, 4631416I11Rik

MMRRC Submission

043071-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3740000-3852925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3779693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 392 (V392A)

Ref Sequence

ENSEMBL: ENSMUSP00000142687 (fasta)

Gene Model

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

AlphaFold

Q6ZPS6

Predicted Effect

probably benign
Transcript: ENSMUST00000043551
AA Change: V392A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: V392A

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

noncoding transcript
Transcript: ENSMUST00000199763

Predicted Effect

probably benign
Transcript: ENSMUST00000200335
AA Change: V392A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: V392A

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

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	G	3: 151,203,467 (GRCm39)	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,593,363 (GRCm39)	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,843,347 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ap2b1	A	G	11: 83,227,563 (GRCm39)		probably null	Het
Arsg	A	G	11: 109,418,700 (GRCm39)	E232G	probably benign	Het
Axdnd1	A	G	1: 156,162,920 (GRCm39)	F144S	probably benign	Het
Bud13	T	A	9: 46,203,498 (GRCm39)	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,012 (GRCm39)	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046 (GRCm39)	T1194A	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,911,290 (GRCm39)	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,406,024 (GRCm39)	W176R	probably damaging	Het
Cenpf	A	T	1: 189,415,100 (GRCm39)	D136E	probably benign	Het
Dclk2	T	C	3: 86,813,344 (GRCm39)	I201V	possibly damaging	Het
Defa24	T	A	8: 22,224,612 (GRCm39)	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,095,039 (GRCm39)	N566D	probably damaging	Het
Dido1	C	A	2: 180,326,966 (GRCm39)	V386L	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,028,807 (GRCm39)	P141S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113 (GRCm39)	L535P	probably damaging	Het
Gimap3	T	A	6: 48,742,183 (GRCm39)	E249V	possibly damaging	Het
Git2	A	T	5: 114,881,835 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,745 (GRCm39)	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,700,045 (GRCm39)	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,389,118 (GRCm39)	G31S	possibly damaging	Het
Herc2	A	T	7: 55,856,519 (GRCm39)	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 32,165,721 (GRCm39)	R134C	unknown	Het
Igf1r	G	C	7: 67,843,107 (GRCm39)	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,658,443 (GRCm39)	E102G	probably damaging	Het
Kif1a	T	G	1: 92,969,414 (GRCm39)	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,705,821 (GRCm39)	L245S	probably damaging	Het
Med17	A	G	9: 15,181,700 (GRCm39)	S17P	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps18b	A	G	17: 36,225,215 (GRCm39)		probably benign	Het
Ms4a8a	A	G	19: 11,056,828 (GRCm39)	S85P	probably benign	Het
Msln	T	C	17: 25,968,847 (GRCm39)	Q487R	probably benign	Het
Myh13	A	G	11: 67,228,549 (GRCm39)	N363S	probably benign	Het
Myo6	T	C	9: 80,152,942 (GRCm39)	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,634,383 (GRCm39)	D688G	probably damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or12d15	A	T	17: 37,694,192 (GRCm39)	M245L	probably benign	Het
Or1j16	G	A	2: 36,530,975 (GRCm39)	R308K	probably benign	Het
Or5p70	G	A	7: 107,994,332 (GRCm39)	A2T	probably benign	Het
Phf11a	C	A	14: 59,516,834 (GRCm39)	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,874,275 (GRCm39)	C520Y	probably benign	Het
Plxna4	C	A	6: 32,155,293 (GRCm39)	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,571,397 (GRCm39)	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,085,488 (GRCm39)	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,357,393 (GRCm39)		probably null	Het
Prss55	T	A	14: 64,314,574 (GRCm39)	M199L	probably damaging	Het
Qrich1	G	A	9: 108,433,659 (GRCm39)	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,842,005 (GRCm39)	V47A	probably damaging	Het
Raph1	A	T	1: 60,562,105 (GRCm39)		probably benign	Het
Rgs12	T	C	5: 35,123,383 (GRCm39)	Y389H	probably damaging	Het
Sec24b	C	A	3: 129,834,544 (GRCm39)	G82V	probably damaging	Het
Sema4a	A	G	3: 88,357,293 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,361 (GRCm39)	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,244,551 (GRCm39)	S340A	probably benign	Het
Slc32a1	T	A	2: 158,456,716 (GRCm39)	M457K	probably damaging	Het
Spata31d1e	T	C	13: 59,890,234 (GRCm39)		probably null	Het
Spint4	C	T	2: 164,542,812 (GRCm39)	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,472,228 (GRCm39)	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,490,738 (GRCm39)	G863D	probably damaging	Het
Tmem156	G	A	5: 65,232,917 (GRCm39)	T151M	probably benign	Het
Trip12	T	C	1: 84,746,401 (GRCm39)	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,605,095 (GRCm39)	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 9,836,545 (GRCm39)	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 84,801,023 (GRCm39)	D304E	probably benign	Het
Wdr93	T	A	7: 79,399,779 (GRCm39)	F123I	probably damaging	Het
Zfp672	A	T	11: 58,207,456 (GRCm39)	C288*	probably null	Het
Zp1	T	C	19: 10,896,769 (GRCm39)	Y90C	probably damaging	Het

Other mutations in Ankib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Ankib1	APN	5	3,777,573 (GRCm39)	missense	probably benign	0.20
IGL01329:Ankib1	APN	5	3,784,194 (GRCm39)	splice site	probably benign
IGL01372:Ankib1	APN	5	3,822,594 (GRCm39)	missense	probably damaging	1.00
IGL01593:Ankib1	APN	5	3,782,590 (GRCm39)	missense	probably benign	0.00
IGL01613:Ankib1	APN	5	3,763,146 (GRCm39)	nonsense	probably null
IGL01728:Ankib1	APN	5	3,751,992 (GRCm39)	splice site	probably benign
IGL01782:Ankib1	APN	5	3,777,607 (GRCm39)	missense	probably damaging	1.00
IGL01878:Ankib1	APN	5	3,784,152 (GRCm39)	missense	possibly damaging	0.69
IGL02730:Ankib1	APN	5	3,752,995 (GRCm39)	missense	probably damaging	1.00
IGL02742:Ankib1	APN	5	3,743,479 (GRCm39)	missense	probably benign	0.04
IGL02873:Ankib1	APN	5	3,822,619 (GRCm39)	missense	probably damaging	1.00
R0033:Ankib1	UTSW	5	3,819,588 (GRCm39)	missense	possibly damaging	0.52
R0242:Ankib1	UTSW	5	3,750,344 (GRCm39)	splice site	probably benign
R0564:Ankib1	UTSW	5	3,779,655 (GRCm39)	missense	probably damaging	0.99
R0632:Ankib1	UTSW	5	3,822,529 (GRCm39)	missense	probably benign	0.02
R0732:Ankib1	UTSW	5	3,763,163 (GRCm39)	missense	possibly damaging	0.89
R1678:Ankib1	UTSW	5	3,756,301 (GRCm39)	missense	probably damaging	0.99
R1816:Ankib1	UTSW	5	3,784,028 (GRCm39)	missense	probably benign	0.05
R2165:Ankib1	UTSW	5	3,763,210 (GRCm39)	missense	possibly damaging	0.69
R3434:Ankib1	UTSW	5	3,742,760 (GRCm39)	missense	probably damaging	1.00
R3749:Ankib1	UTSW	5	3,784,097 (GRCm39)	missense	probably damaging	0.98
R4745:Ankib1	UTSW	5	3,782,566 (GRCm39)	missense	probably damaging	1.00
R4827:Ankib1	UTSW	5	3,751,907 (GRCm39)	missense	probably damaging	1.00
R4983:Ankib1	UTSW	5	3,819,652 (GRCm39)	missense	probably benign	0.09
R4989:Ankib1	UTSW	5	3,763,217 (GRCm39)	missense	probably damaging	0.99
R5022:Ankib1	UTSW	5	3,784,011 (GRCm39)	missense	possibly damaging	0.96
R5057:Ankib1	UTSW	5	3,784,011 (GRCm39)	missense	possibly damaging	0.96
R5606:Ankib1	UTSW	5	3,751,907 (GRCm39)	missense	probably damaging	1.00
R5910:Ankib1	UTSW	5	3,743,217 (GRCm39)	missense	probably benign
R5929:Ankib1	UTSW	5	3,819,633 (GRCm39)	missense	possibly damaging	0.86
R5986:Ankib1	UTSW	5	3,797,071 (GRCm39)	missense	probably damaging	1.00
R6281:Ankib1	UTSW	5	3,751,965 (GRCm39)	missense	possibly damaging	0.70
R6336:Ankib1	UTSW	5	3,750,377 (GRCm39)	nonsense	probably null
R6377:Ankib1	UTSW	5	3,743,855 (GRCm39)	missense	possibly damaging	0.78
R7001:Ankib1	UTSW	5	3,744,781 (GRCm39)	missense	probably benign
R7264:Ankib1	UTSW	5	3,805,739 (GRCm39)	missense	probably damaging	1.00
R7380:Ankib1	UTSW	5	3,772,576 (GRCm39)	missense	probably benign	0.03
R7402:Ankib1	UTSW	5	3,819,586 (GRCm39)	missense	probably benign	0.01
R7491:Ankib1	UTSW	5	3,751,911 (GRCm39)	missense	probably damaging	1.00
R7525:Ankib1	UTSW	5	3,805,734 (GRCm39)	missense	possibly damaging	0.95
R7562:Ankib1	UTSW	5	3,797,021 (GRCm39)	missense	probably null	1.00
R8116:Ankib1	UTSW	5	3,752,995 (GRCm39)	missense	probably damaging	1.00
R8347:Ankib1	UTSW	5	3,797,065 (GRCm39)	missense	probably damaging	1.00
R8712:Ankib1	UTSW	5	3,822,643 (GRCm39)	missense	probably benign	0.03
R8750:Ankib1	UTSW	5	3,752,890 (GRCm39)	critical splice donor site	probably null
R8854:Ankib1	UTSW	5	3,777,489 (GRCm39)	missense	probably null	0.97
R9032:Ankib1	UTSW	5	3,819,641 (GRCm39)	missense	probably benign	0.16
R9180:Ankib1	UTSW	5	3,756,276 (GRCm39)	missense	probably damaging	1.00
R9325:Ankib1	UTSW	5	3,822,523 (GRCm39)	missense	possibly damaging	0.81
R9474:Ankib1	UTSW	5	3,805,617 (GRCm39)	missense	probably damaging	0.98
R9504:Ankib1	UTSW	5	3,763,235 (GRCm39)	missense	probably benign
R9564:Ankib1	UTSW	5	3,805,733 (GRCm39)	missense	possibly damaging	0.87
Z1088:Ankib1	UTSW	5	3,763,137 (GRCm39)	nonsense	probably null
Z1088:Ankib1	UTSW	5	3,763,136 (GRCm39)	missense	probably damaging	1.00
Z1176:Ankib1	UTSW	5	3,742,763 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGGTTAAGTTTCACTTTGCC -3'
(R):5'- AGCCCAGGTCTTGGTGAATAC -3'

Sequencing Primer
(F):5'- TTGCCTTTTATACATACAAAATGCTG -3'
(R):5'- CCACTACACCATATAACTCTTGGTG -3'

Posted On

2016-10-05