Mutagenetix > Incidental Mutation

Incidental Mutation 'R7500:Ankrd42'

581423

Institutional Source

Beutler Lab

Gene Symbol

Ankrd42

Ensembl Gene

ENSMUSG00000041343

Gene Name

ankyrin repeat domain 42

Synonyms

Ikbn, 4933417L02Rik

MMRRC Submission

045573-MU

Accession Numbers

Essential gene?

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

Stock #

R7500 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92230931-92286350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92241080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 426 (E426D)

Ref Sequence

ENSEMBL: ENSMUSP00000061208 (fasta)

Gene Model

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

AlphaFold

Q3V096

Predicted Effect

probably benign
Transcript: ENSMUST00000056106
AA Change: E426D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: E426D

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: ENSMUST00000118157
AA Change: E426D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: E426D

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

Meta Mutation Damage Score

0.1080

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	A	G	9: 119,173,564 (GRCm39)	M146V	probably benign	Het
Adcy1	C	T	11: 7,094,762 (GRCm39)	R563C	probably damaging	Het
Ambn	A	T	5: 88,609,493 (GRCm39)	Y67F	possibly damaging	Het
Ankzf1	A	G	1: 75,174,623 (GRCm39)	T538A	probably benign	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef28	A	G	13: 98,115,003 (GRCm39)	Y616H	probably benign	Het
B4galt4	T	C	16: 38,588,376 (GRCm39)	F340S	probably damaging	Het
Bmp1	C	T	14: 70,727,562 (GRCm39)	E674K	probably benign	Het
Ccr9	T	A	9: 123,608,534 (GRCm39)	V72D	probably damaging	Het
Chd2	T	A	7: 73,101,556 (GRCm39)	K1390I	probably damaging	Het
Col5a3	C	T	9: 20,711,585 (GRCm39)	R513Q	unknown	Het
Cracd	A	G	5: 76,805,905 (GRCm39)	R126G	unknown	Het
Cttnbp2	G	T	6: 18,378,419 (GRCm39)	N1472K	probably benign	Het
Edn3	A	G	2: 174,621,328 (GRCm39)		probably null	Het
Eps15l1	A	G	8: 73,136,634 (GRCm39)	F331L	probably damaging	Het
Gm45337	CACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCTACAGCCTCC	CACAGCCTCC	7: 141,698,021 (GRCm39)		probably benign	Het
Lrrc56	A	G	7: 140,789,443 (GRCm39)	S487G	probably benign	Het
Moxd2	A	G	6: 40,868,746 (GRCm39)	T93A	probably benign	Het
Ngp	G	T	9: 110,248,833 (GRCm39)		probably null	Het
Npr2	T	C	4: 43,650,415 (GRCm39)	V970A	probably damaging	Het
Or4a79	T	C	2: 89,552,281 (GRCm39)	Y58C	possibly damaging	Het
Or5an10	T	C	19: 12,276,041 (GRCm39)	S152G	probably damaging	Het
Or8b9	T	C	9: 37,766,314 (GRCm39)	S67P	probably damaging	Het
Or8g28	T	G	9: 39,169,762 (GRCm39)	I69L	probably benign	Het
Pacc1	A	G	1: 191,078,910 (GRCm39)		probably null	Het
Pdf	A	T	8: 107,773,781 (GRCm39)	F221I	probably damaging	Het
Plekhn1	A	C	4: 156,317,771 (GRCm39)	S205R	probably benign	Het
Ppp6r1	G	A	7: 4,639,129 (GRCm39)	A606V	probably benign	Het
Prpf38b	C	T	3: 108,812,446 (GRCm39)	V256I	probably benign	Het
Rbbp5	T	A	1: 132,421,879 (GRCm39)	H291Q	probably benign	Het
Rnf169	T	C	7: 99,629,445 (GRCm39)	E66G	probably damaging	Het
Rp1	T	A	1: 4,381,501 (GRCm39)	N328Y	unknown	Het
Skint5	A	T	4: 113,417,035 (GRCm39)	V1138E	unknown	Het
Slc27a4	T	C	2: 29,702,717 (GRCm39)	V539A	probably damaging	Het
Smo	G	T	6: 29,755,534 (GRCm39)	R402L	probably benign	Het
Srgap2	A	T	1: 131,364,569 (GRCm39)	L4Q	probably damaging	Het
Tbxas1	A	T	6: 38,959,146 (GRCm39)	R110*	probably null	Het
Thoc7	A	C	14: 13,951,204 (GRCm38)		probably null	Het
Tmub1	G	A	5: 24,652,507 (GRCm39)		probably benign	Het
Tnrc6a	A	G	7: 122,772,673 (GRCm39)		probably null	Het
Traj19	T	A	14: 54,437,860 (GRCm39)	H6Q	unknown	Het
Trim30c	T	C	7: 104,036,758 (GRCm39)	E200G	probably benign	Het
Ubqlnl	A	T	7: 103,798,048 (GRCm39)	I483N	probably damaging	Het
Usp25	G	T	16: 76,874,089 (GRCm39)	R555L	probably damaging	Het
Vgll4	A	G	6: 114,839,293 (GRCm39)	S233P	probably damaging	Het
Vps13b	G	A	15: 35,910,670 (GRCm39)	C3478Y	possibly damaging	Het
Vwa8	T	A	14: 79,162,686 (GRCm39)		probably null	Het
Zfp977	A	G	7: 42,229,629 (GRCm39)	Y299H	probably damaging	Het
Zmynd11	T	A	13: 9,785,434 (GRCm39)	H17L	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
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
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'- GGGCTGACAACACTACATTGT -3'
(R):5'- TTGCAAAAGAAAAGAAAGCACATGTT -3'

Sequencing Primer
(F):5'- AAGTTGGGTATCACCATGCC -3'
(R):5'- GTTGAGTGAGAATCATCACCCTGC -3'

Posted On

2019-10-17