Mutagenetix > Incidental Mutation

Incidental Mutation 'R8669:Ankrd42'

661047

Institutional Source

Beutler Lab

Gene Symbol

Ankrd42

Ensembl Gene

ENSMUSG00000041343

Gene Name

ankyrin repeat domain 42

Synonyms

Ikbn, 4933417L02Rik

MMRRC Submission

068524-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92230931-92286350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92268881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 154 (V154A)

Ref Sequence

ENSEMBL: ENSMUSP00000061208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056106] [ENSMUST00000118157] [ENSMUST00000126305] [ENSMUST00000138267] [ENSMUST00000207131] [ENSMUST00000207151]

AlphaFold

Q3V096

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056106
AA Change: V154A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: V154A

Domain	Start	End	E-Value	Type
ANK	25	54	1.1e2	SMART
ANK	59	88	7.3e-3	SMART
ANK	92	121	6.71e-2	SMART
ANK	125	154	1.48e-3	SMART
ANK	158	187	2.11e2	SMART
ANK	191	220	9.78e-4	SMART
ANK	263	293	1.33e2	SMART
ANK	297	326	1.22e-4	SMART
coiled coil region	437	489	N/A	INTRINSIC
low complexity region	494	507	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118157
AA Change: V154A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: V154A

Domain	Start	End	E-Value	Type
ANK	25	54	1.1e2	SMART
ANK	59	88	7.3e-3	SMART
ANK	92	121	6.71e-2	SMART
ANK	125	154	1.48e-3	SMART
ANK	158	187	2.11e2	SMART
ANK	191	220	9.78e-4	SMART
ANK	263	293	1.33e2	SMART
ANK	297	326	1.22e-4	SMART
coiled coil region	437	489	N/A	INTRINSIC
low complexity region	494	507	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126305

SMART Domains

Protein: ENSMUSP00000123315
Gene: ENSMUSG00000041343

Domain	Start	End	E-Value	Type
ANK	25	54	1.1e2	SMART
ANK	59	88	7.3e-3	SMART
ANK	92	121	6.71e-2	SMART
ANK	125	154	2.92e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138267
AA Change: V154A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207131
AA Change: V154A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207151

Meta Mutation Damage Score

0.2048

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,949,234 (GRCm39)	S305T	probably benign	Het
Apc2	C	T	10: 80,149,491 (GRCm39)	T1515I	probably damaging	Het
Blzf1	T	A	1: 164,130,113 (GRCm39)	N80Y	possibly damaging	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc125	T	C	13: 100,832,683 (GRCm39)	L420P	probably damaging	Het
Ccdc162	T	C	10: 41,428,352 (GRCm39)	T1976A	probably benign	Het
Cdc20b	C	T	13: 113,208,460 (GRCm39)	P219S	possibly damaging	Het
Cep89	A	G	7: 35,128,602 (GRCm39)	D585G	probably benign	Het
Crnn	A	T	3: 93,056,296 (GRCm39)	R361*	probably null	Het
Defb5	A	G	8: 19,300,761 (GRCm39)	I38V	probably benign	Het
Defb8	A	G	8: 19,495,973 (GRCm39)	V29A	probably benign	Het
Dgkh	A	G	14: 78,962,459 (GRCm39)	V24A	probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah12	A	T	14: 26,552,582 (GRCm39)		probably benign	Het
Dsg2	A	G	18: 20,723,132 (GRCm39)	N386S	probably damaging	Het
Dyrk1a	G	T	16: 94,464,650 (GRCm39)	R77L	probably damaging	Het
Fbxw19	G	T	9: 109,313,482 (GRCm39)	L239I	probably benign	Het
Gal3st2b	A	T	1: 93,868,764 (GRCm39)	I332L	possibly damaging	Het
Gcnt1	T	G	19: 17,307,143 (GRCm39)	K194T	probably benign	Het
Gm7298	T	C	6: 121,742,002 (GRCm39)	W475R	probably benign	Het
Gpatch1	C	A	7: 34,991,204 (GRCm39)	W613C	probably damaging	Het
Gulp1	T	A	1: 44,805,270 (GRCm39)	S120T	probably benign	Het
Ift122	C	A	6: 115,900,252 (GRCm39)	Q946K	probably damaging	Het
Itpr1	T	A	6: 108,370,928 (GRCm39)	L1065H	probably damaging	Het
Kcnq5	T	C	1: 21,476,050 (GRCm39)	D579G	probably damaging	Het
Klhl40	T	A	9: 121,607,088 (GRCm39)	S83T	probably benign	Het
Krt19	T	C	11: 100,031,993 (GRCm39)	K320E	probably damaging	Het
Krt87	C	A	15: 101,385,777 (GRCm39)	V273L	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrp1b	A	G	2: 41,172,047 (GRCm39)		probably null	Het
Lrrk1	G	A	7: 65,912,344 (GRCm39)	L1739F	probably benign	Het
Mthfr	A	G	4: 148,135,934 (GRCm39)	N336D	probably benign	Het
Myo6	T	G	9: 80,173,531 (GRCm39)	L557R	unknown	Het
Naip2	T	C	13: 100,325,477 (GRCm39)	S144G	probably benign	Het
Nfatc1	T	C	18: 80,725,406 (GRCm39)	K453E	probably damaging	Het
Or52ab7	A	T	7: 102,978,281 (GRCm39)	D196V	probably benign	Het
Osm	A	T	11: 4,189,665 (GRCm39)	I150L	probably benign	Het
Phtf1	T	A	3: 103,910,792 (GRCm39)	N639K	probably benign	Het
Prpf40b	T	A	15: 99,201,228 (GRCm39)	M1K	probably null	Het
Rhbdl3	G	A	11: 80,244,339 (GRCm39)	V349M	probably damaging	Het
Senp7	T	C	16: 55,986,315 (GRCm39)	S582P	probably damaging	Het
Slc16a14	A	G	1: 84,900,605 (GRCm39)	S127P	probably benign	Het
Slc22a21	C	T	11: 53,870,643 (GRCm39)	W14*	probably null	Het
Slc6a18	T	A	13: 73,812,430 (GRCm39)	E553D	probably benign	Het
Speer4a1	T	G	5: 26,243,236 (GRCm39)	N83T	probably damaging	Het
Svep1	T	A	4: 58,070,119 (GRCm39)	S2556C	possibly damaging	Het
Tc2n	T	C	12: 101,660,851 (GRCm39)	N127S	probably damaging	Het
Tcstv7b	C	A	13: 120,702,338 (GRCm39)	P45T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Thra	T	C	11: 98,654,476 (GRCm39)	V282A	possibly damaging	Het
Tmem161b	A	T	13: 84,420,288 (GRCm39)		probably null	Het
Tmem218	C	T	9: 37,133,815 (GRCm39)	A85V	probably benign	Het
Txnip	T	C	3: 96,466,252 (GRCm39)	Y100H	probably damaging	Het
Unc5c	A	G	3: 141,509,704 (GRCm39)	D728G	possibly damaging	Het
Zfp462	T	A	4: 55,051,313 (GRCm39)	I2262K	probably damaging	Het
Zfp804a	A	T	2: 82,088,106 (GRCm39)	D645V	probably damaging	Het

Other mutations in Ankrd42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ankrd42	APN	7	92,233,662 (GRCm39)	utr 3 prime	probably benign
IGL01151:Ankrd42	APN	7	92,254,408 (GRCm39)	unclassified	probably benign
IGL01444:Ankrd42	APN	7	92,259,793 (GRCm39)	missense	probably damaging	0.96
IGL01933:Ankrd42	APN	7	92,254,493 (GRCm39)	missense	probably benign
IGL03195:Ankrd42	APN	7	92,241,066 (GRCm39)	missense	probably benign	0.33
IGL03397:Ankrd42	APN	7	92,268,762 (GRCm39)	missense	probably damaging	1.00
R0128:Ankrd42	UTSW	7	92,241,067 (GRCm39)	nonsense	probably null
R0278:Ankrd42	UTSW	7	92,280,865 (GRCm39)	missense	possibly damaging	0.82
R0839:Ankrd42	UTSW	7	92,261,980 (GRCm39)	missense	possibly damaging	0.92
R1227:Ankrd42	UTSW	7	92,254,508 (GRCm39)	missense	possibly damaging	0.53
R1603:Ankrd42	UTSW	7	92,268,899 (GRCm39)	intron	probably benign
R2281:Ankrd42	UTSW	7	92,274,981 (GRCm39)	nonsense	probably null
R2299:Ankrd42	UTSW	7	92,239,462 (GRCm39)	missense	probably benign	0.33
R2324:Ankrd42	UTSW	7	92,273,186 (GRCm39)	missense	probably damaging	0.98
R2874:Ankrd42	UTSW	7	92,254,566 (GRCm39)	missense	possibly damaging	0.71
R3940:Ankrd42	UTSW	7	92,240,996 (GRCm39)	splice site	probably null
R4998:Ankrd42	UTSW	7	92,273,282 (GRCm39)	missense	possibly damaging	0.71
R5579:Ankrd42	UTSW	7	92,239,390 (GRCm39)	missense	possibly damaging	0.96
R5954:Ankrd42	UTSW	7	92,273,175 (GRCm39)	critical splice donor site	probably null
R6140:Ankrd42	UTSW	7	92,241,036 (GRCm39)	splice site	probably null
R6924:Ankrd42	UTSW	7	92,231,224 (GRCm39)	unclassified	probably benign
R6944:Ankrd42	UTSW	7	92,268,755 (GRCm39)	critical splice donor site	probably null
R7096:Ankrd42	UTSW	7	92,241,040 (GRCm39)	nonsense	probably null
R7101:Ankrd42	UTSW	7	92,280,752 (GRCm39)	missense	possibly damaging	0.53
R7155:Ankrd42	UTSW	7	92,241,141 (GRCm39)	missense	possibly damaging	0.72
R7410:Ankrd42	UTSW	7	92,259,762 (GRCm39)	missense	possibly damaging	0.93
R7500:Ankrd42	UTSW	7	92,241,080 (GRCm39)	missense	probably benign	0.33
R7640:Ankrd42	UTSW	7	92,268,843 (GRCm39)	missense	probably benign	0.14
R7737:Ankrd42	UTSW	7	92,254,470 (GRCm39)	missense	possibly damaging	0.53
R8794:Ankrd42	UTSW	7	92,263,674 (GRCm39)	missense	probably benign	0.32
R9646:Ankrd42	UTSW	7	92,273,257 (GRCm39)	missense	possibly damaging	0.84
X0065:Ankrd42	UTSW	7	92,259,763 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGGTCACATCAGCTTATCTGC -3'
(R):5'- TCAGATCAATGGGTGTGGC -3'

Sequencing Primer
(F):5'- CTCTGTGAAGAAATTACAGAATGGTG -3'
(R):5'- GCTTCTAAAGCTTCTAATTTTC -3'

Posted On

2021-03-08