Mutagenetix > Incidental Mutation

Incidental Mutation 'R5504:Ankrd40'

484518

Institutional Source

Beutler Lab

Gene Symbol

Ankrd40

Ensembl Gene

ENSMUSG00000020864

Gene Name

ankyrin repeat domain 40

Synonyms

5530600A18Rik, 1110011C06Rik, Gcap15

MMRRC Submission

043065-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R5504 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94218827-94232667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94219153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 25 (E25G)

Ref Sequence

ENSEMBL: ENSMUSP00000103448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021227] [ENSMUST00000051221] [ENSMUST00000107818]

AlphaFold

Q5SUE8

Predicted Effect

probably benign
Transcript: ENSMUST00000021227
AA Change: E25G

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021227
Gene: ENSMUSG00000020864
AA Change: E25G

Domain	Start	End	E-Value	Type
ANK	9	38	7.29e2	SMART
ANK	43	72	3.57e-6	SMART
low complexity region	144	168	N/A	INTRINSIC
low complexity region	234	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051221
AA Change: E25G

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061637
Gene: ENSMUSG00000020864
AA Change: E25G

Domain	Start	End	E-Value	Type
ANK	9	38	7.29e2	SMART
ANK	43	72	3.57e-6	SMART
low complexity region	144	168	N/A	INTRINSIC
low complexity region	234	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107818
AA Change: E25G

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103448
Gene: ENSMUSG00000020864
AA Change: E25G

Domain	Start	End	E-Value	Type
ANK	9	38	7.29e2	SMART
ANK	43	72	3.57e-6	SMART
low complexity region	144	168	N/A	INTRINSIC
low complexity region	234	251	N/A	INTRINSIC

Meta Mutation Damage Score

0.1683

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	T	8: 44,078,319 (GRCm39)	C635Y	probably damaging	Het
Akr1b7	A	G	6: 34,396,453 (GRCm39)		probably null	Het
Amy2a1	T	G	3: 113,325,318 (GRCm39)	D92A	probably benign	Het
Angel2	A	G	1: 190,676,083 (GRCm39)	T455A	probably damaging	Het
Angptl2	T	C	2: 33,119,050 (GRCm39)		probably benign	Het
Asb18	T	A	1: 89,920,746 (GRCm39)	D136V	probably damaging	Het
Asphd1	T	C	7: 126,545,350 (GRCm39)	I336V	possibly damaging	Het
Birc6	C	T	17: 74,962,208 (GRCm39)	P58S	probably damaging	Het
Bsx	A	T	9: 40,785,460 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,488,843 (GRCm39)	L1965P	probably benign	Het
Capza3	A	T	6: 139,988,165 (GRCm39)	I255L	probably benign	Het
Ccdc185	G	T	1: 182,575,192 (GRCm39)	A499E	probably damaging	Het
Cfhr4	A	T	1: 139,629,558 (GRCm39)	S749T	probably benign	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Colgalt2	G	A	1: 152,276,054 (GRCm39)	V56M	possibly damaging	Het
Dennd1b	A	T	1: 139,018,246 (GRCm39)	T197S	probably benign	Het
Dhx30	A	G	9: 109,914,278 (GRCm39)	Y1000H	probably benign	Het
Dlg2	C	T	7: 92,091,865 (GRCm39)	A910V	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dock5	T	C	14: 68,040,535 (GRCm39)	D884G	probably benign	Het
Fhad1	A	G	4: 141,712,846 (GRCm39)	S198P	probably benign	Het
Gabpa	T	C	16: 84,649,446 (GRCm39)	S218P	probably benign	Het
Gm17654	A	T	14: 43,815,494 (GRCm39)	N104K	unknown	Het
Gm4775	T	C	14: 106,338,389 (GRCm39)		noncoding transcript	Het
Gvin3	T	A	7: 106,201,951 (GRCm39)		noncoding transcript	Het
Heatr1	T	A	13: 12,421,500 (GRCm39)	S467T	possibly damaging	Het
Hecw1	A	G	13: 14,515,487 (GRCm39)	M215T	probably benign	Het
Hmgn2	A	T	4: 133,694,114 (GRCm39)		probably benign	Het
Kncn	T	A	4: 115,742,062 (GRCm39)	I43N	possibly damaging	Het
Lgals3bp	G	T	11: 118,284,811 (GRCm39)	T256N	probably benign	Het
Mpi	T	C	9: 57,452,500 (GRCm39)	D344G	probably damaging	Het
Myom2	G	A	8: 15,178,879 (GRCm39)	E1304K	probably damaging	Het
Npat	T	A	9: 53,481,564 (GRCm39)	F1091I	probably benign	Het
Nrcam	T	G	12: 44,610,915 (GRCm39)		probably null	Het
Or2a7	T	A	6: 43,151,572 (GRCm39)	Y217*	probably null	Het
Or4c114	C	T	2: 88,905,024 (GRCm39)	R137Q	probably benign	Het
Or56a4	T	C	7: 104,806,383 (GRCm39)	K169E	probably benign	Het
Pappa2	A	G	1: 158,675,615 (GRCm39)	S1044P	probably benign	Het
Pcnx4	T	C	12: 72,621,222 (GRCm39)	L1014S	probably damaging	Het
Pear1	G	A	3: 87,660,002 (GRCm39)		probably benign	Het
Piwil2	T	A	14: 70,627,348 (GRCm39)	Y797F	probably benign	Het
Ppp2r1b	T	G	9: 50,770,187 (GRCm39)	L81R	probably damaging	Het
Pxdn	C	A	12: 30,052,800 (GRCm39)	H812Q	probably damaging	Het
Rad21l	A	T	2: 151,510,357 (GRCm39)	F33I	probably damaging	Het
Rgs13	A	T	1: 144,015,358 (GRCm39)	C120S	possibly damaging	Het
Rp1	G	A	1: 4,420,113 (GRCm39)	T333M	probably damaging	Het
Sema6d	T	A	2: 124,499,941 (GRCm39)	V339E	probably damaging	Het
Serpina3i	T	A	12: 104,232,862 (GRCm39)	Y256N	probably damaging	Het
Slc13a1	A	T	6: 24,150,743 (GRCm39)	M65K	possibly damaging	Het
Slco6d1	A	G	1: 98,349,064 (GRCm39)	K45R	probably damaging	Het
Src	T	C	2: 157,306,641 (GRCm39)	Y215H	probably damaging	Het
Synj2	T	C	17: 6,086,750 (GRCm39)	V384A	possibly damaging	Het
Tmeff1	T	C	4: 48,650,396 (GRCm39)	S285P	probably damaging	Het
Vmn2r125	A	G	4: 156,703,456 (GRCm39)	D278G	possibly damaging	Het
Vmn2r45	T	C	7: 8,486,176 (GRCm39)	K371E	probably benign	Het
Zfp866	A	T	8: 70,218,341 (GRCm39)	H426Q	probably benign	Het

Other mutations in Ankrd40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
G1patch:Ankrd40	UTSW	11	94,225,641 (GRCm39)	missense	probably benign	0.01
R0621:Ankrd40	UTSW	11	94,230,433 (GRCm39)	splice site	probably null
R2873:Ankrd40	UTSW	11	94,224,771 (GRCm39)	missense	possibly damaging	0.62
R4817:Ankrd40	UTSW	11	94,230,459 (GRCm39)	missense	probably benign	0.00
R4931:Ankrd40	UTSW	11	94,225,647 (GRCm39)	missense	probably benign	0.41
R5026:Ankrd40	UTSW	11	94,230,550 (GRCm39)	unclassified	probably benign
R5891:Ankrd40	UTSW	11	94,225,689 (GRCm39)	missense	probably damaging	1.00
R6089:Ankrd40	UTSW	11	94,224,751 (GRCm39)	missense	probably damaging	1.00
R6725:Ankrd40	UTSW	11	94,225,641 (GRCm39)	missense	probably benign	0.01
R7789:Ankrd40	UTSW	11	94,225,535 (GRCm39)	missense	probably damaging	1.00
R8179:Ankrd40	UTSW	11	94,225,541 (GRCm39)	missense	probably benign	0.00
R8376:Ankrd40	UTSW	11	94,225,662 (GRCm39)	missense	probably damaging	1.00
R8378:Ankrd40	UTSW	11	94,225,662 (GRCm39)	missense	probably damaging	1.00
R8419:Ankrd40	UTSW	11	94,225,662 (GRCm39)	missense	probably damaging	1.00
R8421:Ankrd40	UTSW	11	94,225,662 (GRCm39)	missense	probably damaging	1.00
R9090:Ankrd40	UTSW	11	94,225,262 (GRCm39)	missense	probably benign	0.05
R9264:Ankrd40	UTSW	11	94,229,187 (GRCm39)	missense	probably damaging	1.00
R9271:Ankrd40	UTSW	11	94,225,262 (GRCm39)	missense	probably benign	0.05
R9731:Ankrd40	UTSW	11	94,229,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCACACCGAATAGGGTCC -3'
(R):5'- CAACCACAGAAGAAGGTATGGTTTG -3'

Sequencing Primer
(F):5'- AGCAGCCAGGGAGCTGTC -3'
(R):5'- ATCGGGGCCAGTCTCGAAAG -3'

Posted On

2017-08-08