Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Ankrd13b'

399250

Institutional Source

Beutler Lab

Gene Symbol

Ankrd13b

Ensembl Gene

ENSMUSG00000037907

Gene Name

ankyrin repeat domain 13b

Synonyms

B930093C12Rik

MMRRC Submission

042824-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77361311-77380504 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 77364061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021190] [ENSMUST00000037593] [ENSMUST00000052515] [ENSMUST00000079770] [ENSMUST00000092892] [ENSMUST00000102493] [ENSMUST00000108391] [ENSMUST00000145934]

AlphaFold

Q5F259

Predicted Effect

probably benign
Transcript: ENSMUST00000021190

SMART Domains

Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	257	391	1.19e-91	SMART
low complexity region	414	429	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037593

SMART Domains

Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
ANK	13	43	3.16e2	SMART
ANK	47	76	2.85e-5	SMART
ANK	80	109	1.17e2	SMART
Pfam:GPCR_chapero_1	163	491	5.5e-111	PFAM
UIM	503	522	1.81e-1	SMART
low complexity region	552	580	N/A	INTRINSIC
UIM	585	604	3.15e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052515

SMART Domains

Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	217	351	1.19e-91	SMART
low complexity region	374	389	N/A	INTRINSIC
coiled coil region	390	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079770

SMART Domains

Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	217	351	1.19e-91	SMART
low complexity region	374	389	N/A	INTRINSIC
coiled coil region	390	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092892

SMART Domains

Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
ANK	13	43	3.16e2	SMART
ANK	47	76	2.85e-5	SMART
ANK	80	109	1.17e2	SMART
Pfam:GPCR_chapero_1	163	490	3.2e-110	PFAM
UIM	503	522	1.81e-1	SMART
low complexity region	673	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102493

SMART Domains

Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	257	391	1.19e-91	SMART
low complexity region	414	429	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108391

SMART Domains

Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836

Domain	Start	End	E-Value	Type
DUF1899	4	68	7.45e-34	SMART
WD40	67	110	2.1e-7	SMART
WD40	120	160	2.07e-6	SMART
WD40	163	203	2.73e-6	SMART
DUF1900	257	391	1.19e-91	SMART
low complexity region	414	429	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143872

Predicted Effect

probably benign
Transcript: ENSMUST00000145934

SMART Domains

Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
Pfam:GPCR_chapero_1	2	276	9.7e-90	PFAM
UIM	288	307	1.81e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127291

SMART Domains

Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907

Domain	Start	End	E-Value	Type
Pfam:GPCR_chapero_1	1	120	9.7e-31	PFAM
low complexity region	121	133	N/A	INTRINSIC
low complexity region	184	200	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 39,962,746 (GRCm39)		noncoding transcript	Het
Actrt2	A	C	4: 154,752,026 (GRCm39)	S37A	possibly damaging	Het
Adcy7	T	C	8: 89,040,742 (GRCm39)	I327T	probably damaging	Het
Arap1	A	C	7: 101,037,851 (GRCm39)	I237L	probably benign	Het
Arhgap17	A	T	7: 122,902,971 (GRCm39)	Y359N	probably benign	Het
Atad1	A	G	19: 32,651,702 (GRCm39)	M343T	probably benign	Het
Cacna1b	A	T	2: 24,609,964 (GRCm39)	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,574,930 (GRCm39)	S1914P	probably benign	Het
Cd300a	G	T	11: 114,785,577 (GRCm39)	R174L	probably benign	Het
Dip2a	G	A	10: 76,135,831 (GRCm39)	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,405,436 (GRCm39)	L283P	probably damaging	Het
Dusp1	T	C	17: 26,727,191 (GRCm39)	N36S	probably benign	Het
Dync2i2	T	A	2: 29,922,375 (GRCm39)		probably benign	Het
Ercc3	C	A	18: 32,402,917 (GRCm39)	P776Q	probably damaging	Het
Etv1	A	G	12: 38,902,248 (GRCm39)	R260G	possibly damaging	Het
Fa2h	C	G	8: 112,075,869 (GRCm39)	M251I	probably benign	Het
Fcsk	T	C	8: 111,610,499 (GRCm39)	E968G	possibly damaging	Het
Flg2	A	G	3: 93,108,119 (GRCm39)	D49G	probably damaging	Het
Fras1	A	G	5: 96,888,884 (GRCm39)	E2810G	probably damaging	Het
Gabbr1	T	C	17: 37,366,805 (GRCm39)	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,667,264 (GRCm39)	T329A	probably benign	Het
Hcn4	T	A	9: 58,731,558 (GRCm39)	I255N	unknown	Het
Hk3	T	G	13: 55,158,824 (GRCm39)	D485A	probably damaging	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Kcp	C	T	6: 29,498,519 (GRCm39)		probably benign	Het
Kifc2	G	T	15: 76,550,481 (GRCm39)	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,756,584 (GRCm39)	Y142C	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,596,126 (GRCm39)	I72L	probably benign	Het
Lep	T	A	6: 29,070,862 (GRCm39)	F62Y	probably damaging	Het
Lrtm1	A	G	14: 28,743,801 (GRCm39)	T90A	probably benign	Het
Mug1	A	T	6: 121,865,872 (GRCm39)	D1472V	probably benign	Het
Ncor2	G	T	5: 125,103,994 (GRCm39)	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,149,917 (GRCm39)	S508L	probably benign	Het
Obp2b	T	A	2: 25,627,155 (GRCm39)	D29E	probably benign	Het
Or10ag2	G	A	2: 87,249,012 (GRCm39)	V207M	possibly damaging	Het
Or4c109	A	G	2: 88,818,444 (GRCm39)	L34P	possibly damaging	Het
Or4c119	A	T	2: 88,986,801 (GRCm39)	C239*	probably null	Het
Or4k15b	T	C	14: 50,272,745 (GRCm39)	I38M	possibly damaging	Het
Or6c3b	A	G	10: 129,527,601 (GRCm39)	I103T	probably damaging	Het
Otof	A	G	5: 30,527,483 (GRCm39)	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,216,886 (GRCm39)	V165E	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,150 (GRCm39)	V440A	possibly damaging	Het
Pelp1	C	A	11: 70,292,487 (GRCm39)	G211C	probably damaging	Het
Phox2a	A	G	7: 101,471,312 (GRCm39)	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,841,983 (GRCm39)		probably null	Het
Pramel1	T	A	4: 143,125,156 (GRCm39)	M360K	probably benign	Het
Rbm6	C	T	9: 107,729,856 (GRCm39)	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc45a1	T	C	4: 150,722,727 (GRCm39)	T386A	probably damaging	Het
Smad2	A	G	18: 76,421,124 (GRCm39)	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,800,110 (GRCm39)	G2188D	probably benign	Het
Sugt1	G	A	14: 79,840,341 (GRCm39)		probably null	Het
Tctn3	T	C	19: 40,595,685 (GRCm39)	S367G	probably benign	Het
Tead1	G	T	7: 112,460,752 (GRCm39)	D219Y	probably damaging	Het
Tenm2	G	T	11: 35,938,028 (GRCm39)	Y1548*	probably null	Het
Tenm3	T	A	8: 48,682,233 (GRCm39)	I2466F	possibly damaging	Het
Tent4b	C	A	8: 88,926,651 (GRCm39)	H20Q	possibly damaging	Het
Tgm2	G	A	2: 157,971,358 (GRCm39)	P294S	probably damaging	Het
Tns2	T	C	15: 102,019,888 (GRCm39)	S585P	probably damaging	Het
Ttc41	A	G	10: 86,566,806 (GRCm39)	K491E	probably benign	Het
Ttn	G	A	2: 76,621,895 (GRCm39)	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,461,183 (GRCm39)	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,083,820 (GRCm39)	M65V	probably benign	Het
Zcchc14	T	C	8: 122,345,433 (GRCm39)		probably benign	Het

Other mutations in Ankrd13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Ankrd13b	APN	11	77,363,578 (GRCm39)	missense	probably damaging	1.00
IGL01396:Ankrd13b	APN	11	77,363,198 (GRCm39)	splice site	probably null
IGL02731:Ankrd13b	APN	11	77,367,045 (GRCm39)	missense	probably damaging	0.99
R0310:Ankrd13b	UTSW	11	77,363,571 (GRCm39)	missense	possibly damaging	0.71
R0496:Ankrd13b	UTSW	11	77,363,867 (GRCm39)	missense	probably damaging	1.00
R0511:Ankrd13b	UTSW	11	77,364,114 (GRCm39)	missense	possibly damaging	0.89
R0831:Ankrd13b	UTSW	11	77,363,585 (GRCm39)	missense	probably damaging	0.99
R1156:Ankrd13b	UTSW	11	77,363,687 (GRCm39)	missense	probably damaging	1.00
R1237:Ankrd13b	UTSW	11	77,365,400 (GRCm39)	missense	probably damaging	1.00
R2259:Ankrd13b	UTSW	11	77,367,168 (GRCm39)	missense	probably damaging	1.00
R3110:Ankrd13b	UTSW	11	77,368,331 (GRCm39)	missense	possibly damaging	0.67
R3112:Ankrd13b	UTSW	11	77,368,331 (GRCm39)	missense	possibly damaging	0.67
R4190:Ankrd13b	UTSW	11	77,367,201 (GRCm39)	missense	probably damaging	1.00
R4471:Ankrd13b	UTSW	11	77,367,040 (GRCm39)	missense	probably damaging	1.00
R4599:Ankrd13b	UTSW	11	77,362,494 (GRCm39)	missense	probably benign
R5677:Ankrd13b	UTSW	11	77,368,370 (GRCm39)	missense	probably damaging	0.99
R7073:Ankrd13b	UTSW	11	77,363,335 (GRCm39)	missense	probably benign	0.39
R7388:Ankrd13b	UTSW	11	77,363,583 (GRCm39)	missense	probably benign	0.02
R7417:Ankrd13b	UTSW	11	77,367,020 (GRCm39)	missense	probably damaging	0.97
R7592:Ankrd13b	UTSW	11	77,367,327 (GRCm39)	missense	probably benign	0.45
R7596:Ankrd13b	UTSW	11	77,363,140 (GRCm39)	missense	probably benign	0.18
R7643:Ankrd13b	UTSW	11	77,363,911 (GRCm39)	missense	probably benign	0.01
R8434:Ankrd13b	UTSW	11	77,368,552 (GRCm39)	missense	probably benign	0.01
R8959:Ankrd13b	UTSW	11	77,367,452 (GRCm39)	missense	probably damaging	1.00
R9668:Ankrd13b	UTSW	11	77,368,594 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AATCTTGACTGGGAAGCCAG -3'
(R):5'- TGGTACAGACCCTGATCACTCAG -3'

Sequencing Primer
(F):5'- GCGCAACGTGATGAAGTCC -3'
(R):5'- TCAGACTCTGAGCCAAGCC -3'

Posted On

2016-07-06