Mutagenetix > Incidental Mutation

Incidental Mutation 'R8419:Ankrd40'

653106

Institutional Source

Beutler Lab

Gene Symbol

Ankrd40

Ensembl Gene

ENSMUSG00000020864

Gene Name

ankyrin repeat domain 40

Synonyms

5530600A18Rik, 1110011C06Rik, Gcap15

MMRRC Submission

067772-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R8419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94218827-94232667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94225662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 231 (G231V)

Ref Sequence

ENSEMBL: ENSMUSP00000061637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021227] [ENSMUST00000051221] [ENSMUST00000107818] [ENSMUST00000149867]

AlphaFold

Q5SUE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021227
AA Change: G231V

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

SMART Domains

Protein: ENSMUSP00000021227
Gene: ENSMUSG00000020864
AA Change: G231V

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 damaging
Transcript: ENSMUST00000051221
AA Change: G231V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061637
Gene: ENSMUSG00000020864
AA Change: G231V

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 damaging
Transcript: ENSMUST00000107818
AA Change: G231V

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

SMART Domains

Protein: ENSMUSP00000103448
Gene: ENSMUSG00000020864
AA Change: G231V

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: ENSMUST00000149867

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,312 (GRCm39)	I707N	probably damaging	Het
Abca14	A	G	7: 119,815,489 (GRCm39)	I246V	probably benign	Het
Adam19	G	A	11: 46,015,850 (GRCm39)	A337T	possibly damaging	Het
Arhgap5	G	A	12: 52,565,572 (GRCm39)	V848I	probably damaging	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Casz1	T	A	4: 149,033,040 (GRCm39)	S1310T	probably benign	Het
Chi3l1	A	T	1: 134,117,280 (GRCm39)	D367V	probably damaging	Het
Cltc	A	G	11: 86,598,392 (GRCm39)	V990A	probably benign	Het
Col6a3	A	T	1: 90,729,935 (GRCm39)	S1790R	probably damaging	Het
Comt	C	T	16: 18,230,637 (GRCm39)	W24*	probably null	Het
Cyp2c70	T	C	19: 40,149,024 (GRCm39)	E374G	possibly damaging	Het
Dach1	T	C	14: 98,406,076 (GRCm39)	T224A	probably damaging	Het
Dapk1	G	A	13: 60,887,911 (GRCm39)	E656K	probably benign	Het
Dicer1	A	G	12: 104,668,936 (GRCm39)	S1249P	probably benign	Het
Dpp8	A	C	9: 64,988,037 (GRCm39)	I861L	probably benign	Het
Enam	C	T	5: 88,651,209 (GRCm39)	S906L	possibly damaging	Het
Eral1	A	T	11: 77,964,906 (GRCm39)	I429N	possibly damaging	Het
Fbxo10	C	A	4: 45,041,809 (GRCm39)	G807C	possibly damaging	Het
Fcgbpl1	G	T	7: 27,843,346 (GRCm39)	G745C	probably damaging	Het
Fsip2	G	C	2: 82,808,963 (GRCm39)	E1761Q	probably damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm4353	G	A	7: 115,682,784 (GRCm39)	P266S	probably benign	Het
Gpr84	T	C	15: 103,217,963 (GRCm39)	N38S	probably damaging	Het
Guca1a	A	T	17: 47,706,480 (GRCm39)	I115N	probably damaging	Het
Hic1	C	T	11: 75,057,096 (GRCm39)	V598M	possibly damaging	Het
Itga1	A	T	13: 115,143,604 (GRCm39)	I309N	probably damaging	Het
Itga11	T	C	9: 62,662,460 (GRCm39)	S478P	possibly damaging	Het
Kctd8	T	C	5: 69,497,713 (GRCm39)	D311G	probably damaging	Het
Klhl32	T	C	4: 24,682,203 (GRCm39)	E127G	possibly damaging	Het
Lama2	T	A	10: 27,298,559 (GRCm39)	Y179F	probably benign	Het
Lamb2	G	T	9: 108,365,563 (GRCm39)	R1382L	probably benign	Het
Mrpl1	C	G	5: 96,374,226 (GRCm39)	A167G	probably benign	Het
Muc17	A	T	5: 137,175,570 (GRCm39)	N33K		Het
Myt1	A	T	2: 181,424,399 (GRCm39)	R31*	probably null	Het
Nectin2	T	C	7: 19,451,646 (GRCm39)	T463A	probably benign	Het
Nectin2	A	T	7: 19,472,003 (GRCm39)	Y129N	probably damaging	Het
Or12d13	A	G	17: 37,647,466 (GRCm39)	I219T	possibly damaging	Het
Or4k47	A	T	2: 111,451,849 (GRCm39)	M190K	probably benign	Het
Papolb	T	A	5: 142,514,296 (GRCm39)	N449I	possibly damaging	Het
Parn	T	C	16: 13,466,338 (GRCm39)	K236R	probably benign	Het
Pramel22	A	G	4: 143,382,997 (GRCm39)	I74T	probably damaging	Het
Prelid1	G	A	13: 55,470,698 (GRCm39)	R42Q	probably damaging	Het
Prelp	A	G	1: 133,843,020 (GRCm39)	F42L	probably benign	Het
Pygo1	C	T	9: 72,852,380 (GRCm39)	P189L	probably damaging	Het
Rimbp3	T	A	16: 17,030,886 (GRCm39)	S1437T	probably damaging	Het
Slc37a2	T	A	9: 37,148,726 (GRCm39)	D252V	probably benign	Het
Socs7	A	G	11: 97,254,165 (GRCm39)	K233R	probably benign	Het
Spopfm2	T	C	3: 94,082,921 (GRCm39)	I297V	probably benign	Het
Stat4	A	G	1: 52,137,637 (GRCm39)	D476G	possibly damaging	Het
Tesmin	A	G	19: 3,439,077 (GRCm39)	D43G	probably benign	Het
Thap1	C	A	8: 26,648,502 (GRCm39)	Y8*	probably null	Het
Tln1	A	G	4: 43,536,397 (GRCm39)	L1965P	probably damaging	Het
Tmprss11d	A	G	5: 86,457,165 (GRCm39)	S303P	probably damaging	Het
Tomm40	C	T	7: 19,435,759 (GRCm39)	V324M	probably damaging	Het
Vmn1r202	A	T	13: 22,685,985 (GRCm39)	I144K	probably damaging	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
R5504:Ankrd40	UTSW	11	94,219,153 (GRCm39)	missense	probably benign	0.31
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
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'- CACAGAAACCCCTTTGCTAGG -3'
(R):5'- TGGAATCTTGAGTGTAAAGAGTTCC -3'

Sequencing Primer
(F):5'- CTTTCCTAGGGACCACAGC -3'
(R):5'- GAGTTCCTTCATTAGACAGATCTTGG -3'

Posted On

2020-10-20