Mutagenetix > Incidental Mutation

Incidental Mutation 'R4406:Ankrd37'

327661

Institutional Source

Beutler Lab

Gene Symbol

Ankrd37

Ensembl Gene

ENSMUSG00000050914

Gene Name

ankyrin repeat domain 37

Synonyms

MMRRC Submission

041688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R4406 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46449945-46452904 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 46450131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000053558] [ENSMUST00000066451] [ENSMUST00000110380] [ENSMUST00000130412] [ENSMUST00000153674] [ENSMUST00000209443]

AlphaFold

Q569N2

Predicted Effect

probably benign
Transcript: ENSMUST00000034051

SMART Domains

Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634

Domain	Start	End	E-Value	Type
low complexity region	87	103	N/A	INTRINSIC
Pfam:Peptidase_C78	268	453	1.3e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053558

SMART Domains

Protein: ENSMUSP00000056828
Gene: ENSMUSG00000050914

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
ANK	63	92	7.71e-2	SMART
ANK	96	125	7.29e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066451

SMART Domains

Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
SEL1	110	145	4.45e-3	SMART
SEL1	153	188	5.07e-7	SMART
SEL1	193	226	6.3e-3	SMART
SEL1	227	262	3.9e-8	SMART
Blast:SEL1	263	293	1e-5	BLAST
SEL1	317	352	7.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110380

SMART Domains

Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
SEL1	89	124	4.45e-3	SMART
SEL1	132	167	5.07e-7	SMART
SEL1	172	205	6.3e-3	SMART
SEL1	206	241	3.9e-8	SMART
Blast:SEL1	242	272	1e-5	BLAST
SEL1	296	331	7.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144525

Predicted Effect

probably benign
Transcript: ENSMUST00000153674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210608

Predicted Effect

probably benign
Transcript: ENSMUST00000209443

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	T	11: 84,171,275 (GRCm39)	L1170F	probably benign	Het
Acss3	A	T	10: 106,889,198 (GRCm39)	D207E	probably damaging	Het
Adgrl1	T	C	8: 84,656,671 (GRCm39)	S325P	probably damaging	Het
Atp13a2	C	T	4: 140,733,787 (GRCm39)	P1059S	probably damaging	Het
Camkv	T	C	9: 107,823,418 (GRCm39)		probably null	Het
Ces1f	T	C	8: 93,989,950 (GRCm39)	T387A	probably benign	Het
Dmxl1	T	A	18: 50,022,620 (GRCm39)	L1653I	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat2	G	A	11: 55,153,094 (GRCm39)	A3706V	probably benign	Het
Fbln1	T	A	15: 85,115,757 (GRCm39)		probably null	Het
Gm1527	G	A	3: 28,949,874 (GRCm39)	V45M	possibly damaging	Het
Gm5084	A	G	13: 60,360,380 (GRCm39)		noncoding transcript	Het
Itpr1	T	A	6: 108,331,624 (GRCm39)	H194Q	probably damaging	Het
Kif24	A	T	4: 41,393,954 (GRCm39)	L973Q	probably damaging	Het
Lrfn4	T	C	19: 4,663,299 (GRCm39)	T412A	probably benign	Het
Ly75	T	C	2: 60,184,894 (GRCm39)	E420G	probably damaging	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Mib1	A	C	18: 10,763,289 (GRCm39)	K446N	probably damaging	Het
Mrpl4	T	C	9: 20,918,231 (GRCm39)	W146R	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Nomo1	A	G	7: 45,706,092 (GRCm39)	N482S	probably benign	Het
Or2y1	G	A	11: 49,385,744 (GRCm39)	R128H	probably benign	Het
Or5b105	A	G	19: 13,079,958 (GRCm39)	S237P	possibly damaging	Het
Or5b96	A	T	19: 12,867,598 (GRCm39)	Y114*	probably null	Het
Or8g21	T	C	9: 38,905,865 (GRCm39)	I289V	possibly damaging	Het
Or9s15	T	A	1: 92,525,036 (GRCm39)	M265K	possibly damaging	Het
Osbpl10	C	T	9: 114,938,549 (GRCm39)	H70Y	probably damaging	Het
Pdilt	A	C	7: 119,094,232 (GRCm39)	S340A	probably damaging	Het
Ppan	C	A	9: 20,802,288 (GRCm39)	D226E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sema3g	G	A	14: 30,950,116 (GRCm39)	V766M	probably benign	Het
Skint6	T	A	4: 113,013,683 (GRCm39)	N356I	probably benign	Het
Slco2b1	A	T	7: 99,314,096 (GRCm39)	S496T	probably benign	Het
Trak1	T	C	9: 121,260,602 (GRCm39)	V11A	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Umod	G	A	7: 119,065,287 (GRCm39)	P581S	probably damaging	Het
Zfat	A	G	15: 68,052,040 (GRCm39)	S585P	probably benign	Het
Zfp472	C	A	17: 33,197,134 (GRCm39)	T403N	probably benign	Het
Zfp936	A	G	7: 42,839,748 (GRCm39)	Q405R	possibly damaging	Het

Other mutations in Ankrd37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02512:Ankrd37	APN	8	46,452,325 (GRCm39)	missense	probably damaging	1.00
R0548:Ankrd37	UTSW	8	46,451,433 (GRCm39)	critical splice donor site	probably null
R2280:Ankrd37	UTSW	8	46,452,413 (GRCm39)	missense	probably benign	0.00
R6608:Ankrd37	UTSW	8	46,452,891 (GRCm39)	unclassified	probably benign
R7180:Ankrd37	UTSW	8	46,452,891 (GRCm39)	unclassified	probably benign
R8066:Ankrd37	UTSW	8	46,450,726 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCCTTCCTCAACGACCTAATG -3'
(R):5'- GGGACGAGACCTTCTTTTAAAAG -3'

Sequencing Primer
(F):5'- GCTCTTTAAATTATCTTGGAGGCAAG -3'
(R):5'- TCTCAGGTCCCCTTAGAA -3'

Posted On

2015-07-07