Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Ankrd13b'

329447

Institutional Source

Beutler Lab

Gene Symbol

Ankrd13b

Ensembl Gene

ENSMUSG00000037907

Gene Name

ankyrin repeat domain 13b

Synonyms

B930093C12Rik

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77361311-77380504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77367040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 49 (K49M)

Ref Sequence

ENSEMBL: ENSMUSP00000119633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037593] [ENSMUST00000092892] [ENSMUST00000145934]

AlphaFold

Q5F259

Predicted Effect

probably damaging
Transcript: ENSMUST00000037593
AA Change: K264M

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

SMART Domains

Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
AA Change: K264M

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 damaging
Transcript: ENSMUST00000092892
AA Change: K264M

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

SMART Domains

Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
AA Change: K264M

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

unknown
Transcript: ENSMUST00000127291
AA Change: K11M

SMART Domains

Protein: ENSMUSP00000118247
Gene: ENSMUSG00000037907
AA Change: K11M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143872

Predicted Effect

probably damaging
Transcript: ENSMUST00000145934
AA Change: K49M

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

SMART Domains

Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
AA Change: K49M

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

Meta Mutation Damage Score

0.2601

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Cdc34b	A	G	11: 94,633,064 (GRCm39)	E88G	probably benign	Het
Cdh2	T	C	18: 16,907,533 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,174,025 (GRCm39)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,395,585 (GRCm39)		probably null	Het
Cfap20dc	A	G	14: 8,536,571 (GRCm38)	L212P	probably damaging	Het
Cmya5	A	T	13: 93,228,833 (GRCm39)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,754,089 (GRCm39)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dnajb4	A	T	3: 151,890,799 (GRCm39)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,472,894 (GRCm39)		probably benign	Het
Ern1	C	A	11: 106,310,868 (GRCm39)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm39)	H170L	probably benign	Het
Fn3krp	T	G	11: 121,317,499 (GRCm39)	D146E	probably benign	Het
Git1	A	G	11: 77,390,650 (GRCm39)	T129A	probably benign	Het
Glrp1	T	A	1: 88,431,196 (GRCm39)	Q58L	unknown	Het
Gpatch2	A	G	1: 186,965,337 (GRCm39)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,713,857 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,313,764 (GRCm39)	N4214S	probably damaging	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Impdh1	G	A	6: 29,204,631 (GRCm39)	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,236,990 (GRCm39)	T447M	probably benign	Het
Lman1	A	T	18: 66,124,797 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm39)	E306G	probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mtif2	T	C	11: 29,490,053 (GRCm39)		probably benign	Het
Mvp	C	T	7: 126,601,130 (GRCm39)	M1I	probably null	Het
Myh7	A	T	14: 55,229,311 (GRCm39)	Y162*	probably null	Het
Nemf	G	A	12: 69,361,216 (GRCm39)	H956Y	probably benign	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Patj	A	G	4: 98,423,816 (GRCm39)	K621E	probably damaging	Het
Prss2	A	G	6: 41,499,780 (GRCm39)	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,571,259 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,027 (GRCm39)	V482A	probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,846,774 (GRCm39)		probably benign	Het
Slc5a4b	G	A	10: 75,894,725 (GRCm39)	Q594*	probably null	Het
Slk	T	G	19: 47,603,862 (GRCm39)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,597,277 (GRCm39)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,080,673 (GRCm39)	V2036E	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcstv2a	G	T	13: 120,725,579 (GRCm39)	R81L	probably benign	Het
Tecrl	A	G	5: 83,461,134 (GRCm39)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm39)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttc23	G	A	7: 67,319,904 (GRCm39)	R187Q	probably benign	Het
Ttl	T	C	2: 128,923,977 (GRCm39)	V230A	probably benign	Het
Ube2u	G	A	4: 100,338,843 (GRCm39)	W36*	probably null	Het
Ube4a	A	T	9: 44,857,830 (GRCm39)		probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc45a	A	G	7: 79,982,728 (GRCm39)	I399T	possibly damaging	Het
Utp25	C	T	1: 192,812,445 (GRCm39)	R5Q	possibly damaging	Het
Wdr59	A	C	8: 112,193,419 (GRCm39)		probably null	Het
Zfp24	A	G	18: 24,151,172 (GRCm39)		probably benign	Het
Zfp777	A	T	6: 48,019,041 (GRCm39)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,697,913 (GRCm39)	C265*	probably null	Het
Zzef1	T	A	11: 72,804,157 (GRCm39)	L2633Q	probably damaging	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
R4599:Ankrd13b	UTSW	11	77,362,494 (GRCm39)	missense	probably benign
R5253:Ankrd13b	UTSW	11	77,364,061 (GRCm39)	intron	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'- GAGCCTTGGATGTGACTACC -3'
(R):5'- TGGTGTACATGGAGACCCTG -3'

Sequencing Primer
(F):5'- AGCCTTGGATGTGACTACCCTAAG -3'
(R):5'- ACAGGTGCTGAGCAGGCTTAC -3'

Posted On

2015-07-21