Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Ankrd42'

726733

Institutional Source

Beutler Lab

Gene Symbol

Ankrd42

Ensembl Gene

ENSMUSG00000041343

Gene Name

ankyrin repeat domain 42

Synonyms

Ikbn, 4933417L02Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9646 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92230931-92286350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92273257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 123 (D123E)

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: D123E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: D123E

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: D123E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: D123E

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 damaging
Transcript: ENSMUST00000126305
AA Change: D123E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123315
Gene: ENSMUSG00000041343
AA Change: D123E

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 damaging
Transcript: ENSMUST00000138267
AA Change: D123E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207131
AA Change: D123E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207151
AA Change: D123E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	probably benign	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
R8669:Ankrd42	UTSW	7	92,268,881 (GRCm39)	missense	possibly damaging	0.51
R8794:Ankrd42	UTSW	7	92,263,674 (GRCm39)	missense	probably benign	0.32
X0065:Ankrd42	UTSW	7	92,259,763 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCCCAAAGTCACAGGAAG -3'
(R):5'- ACCATTGACTTGGAACTCAGCTAG -3'

Sequencing Primer
(F):5'- CCAAAGTCACAGGAAGGACTCTG -3'
(R):5'- CTTGGAACTCAGCTAGCCAATTAAGG -3'

Posted On

2022-10-06