Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Ankrd40'

634565

Institutional Source

Beutler Lab

Gene Symbol

Ankrd40

Ensembl Gene

ENSMUSG00000020864

Gene Name

ankyrin repeat domain 40

Synonyms

5530600A18Rik, 1110011C06Rik, Gcap15

MMRRC Submission

067604-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R8179 (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 A at 94225541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 191 (A191T)

Ref Sequence

ENSEMBL: ENSMUSP00000061637 (fasta)

Gene Model

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

AlphaFold

Q5SUE8

Predicted Effect

probably benign
Transcript: ENSMUST00000021227
AA Change: A191T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021227
Gene: ENSMUSG00000020864
AA Change: A191T

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: A191T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000061637
Gene: ENSMUSG00000020864
AA Change: A191T

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: A191T

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103448
Gene: ENSMUSG00000020864
AA Change: A191T

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,136,100 (GRCm39)	Y170H	probably damaging	Het
Ace3	G	T	11: 105,895,383 (GRCm39)	V602L	probably benign	Het
Ahr	T	C	12: 35,560,050 (GRCm39)	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,545,952 (GRCm39)	C612G	probably damaging	Het
Aox1	A	G	1: 58,137,117 (GRCm39)	D1169G	probably damaging	Het
Arfgap2	T	C	2: 91,105,668 (GRCm39)	F505L	probably damaging	Het
Arhgap40	T	C	2: 158,381,776 (GRCm39)	F423L	probably damaging	Het
Atf6b	T	C	17: 34,872,968 (GRCm39)	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939 (GRCm39)	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,857,295 (GRCm39)	L494Q	probably damaging	Het
Cd180	T	C	13: 102,842,141 (GRCm39)	S396P	probably benign	Het
Cdk19	T	C	10: 40,270,368 (GRCm39)	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,833,178 (GRCm39)	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,378,253 (GRCm39)		probably benign	Het
Clmp	T	C	9: 40,692,475 (GRCm39)	F248S	probably benign	Het
Ctc1	T	A	11: 68,915,050 (GRCm39)	I237K	probably benign	Het
Dcaf1	G	T	9: 106,735,115 (GRCm39)	V688L	probably damaging	Het
Ddx54	T	A	5: 120,765,167 (GRCm39)	M812K	probably benign	Het
Disc1	C	T	8: 125,814,316 (GRCm39)	P60L	probably benign	Het
Disp2	C	G	2: 118,623,030 (GRCm39)	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,842,284 (GRCm39)	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 78,090,393 (GRCm39)	I58N		Het
Elovl5	A	G	9: 77,884,181 (GRCm39)	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,885,099 (GRCm39)	V71A	probably benign	Het
Frs2	A	T	10: 116,912,791 (GRCm39)	H167Q	probably damaging	Het
Gm4553	A	T	7: 141,718,594 (GRCm39)	V278E	unknown	Het
Grin2d	A	T	7: 45,507,452 (GRCm39)	Y416*	probably null	Het
Hmcn1	A	T	1: 150,598,265 (GRCm39)	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,969,479 (GRCm39)	Y105C	probably damaging	Het
Lingo1	T	C	9: 56,527,134 (GRCm39)	D491G	probably damaging	Het
Map3k1	A	C	13: 111,885,581 (GRCm39)	I1445M	probably damaging	Het
Med30	A	T	15: 52,575,964 (GRCm39)	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,822,554 (GRCm39)	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854 (GRCm39)		probably null	Het
Mogat1	A	G	1: 78,504,255 (GRCm39)	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,708,362 (GRCm39)	D142E	probably null	Het
Mybpc2	C	A	7: 44,159,254 (GRCm39)	V599L	probably benign	Het
Myot	A	T	18: 44,487,197 (GRCm39)	R345*	probably null	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or10z1	T	G	1: 174,078,130 (GRCm39)	D121A	possibly damaging	Het
Or8g53	C	T	9: 39,683,200 (GRCm39)	V299I	probably benign	Het
Pglyrp2	T	C	17: 32,635,003 (GRCm39)	Y453C	possibly damaging	Het
Phrf1	A	G	7: 140,836,493 (GRCm39)	Y255C	unknown	Het
Plppr4	A	G	3: 117,125,327 (GRCm39)	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,172,095 (GRCm39)		probably null	Het
Pramel57	T	C	5: 95,667,753 (GRCm39)	V111A	probably benign	Het
Rapgef3	A	T	15: 97,658,621 (GRCm39)	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,398,176 (GRCm39)		probably null	Het
Rpe65	A	G	3: 159,330,336 (GRCm39)	Y501C	probably benign	Het
Ruvbl2	A	G	7: 45,072,196 (GRCm39)	I346T	probably damaging	Het
Sema3g	A	G	14: 30,942,542 (GRCm39)	I48V	probably benign	Het
Slc4a10	A	C	2: 62,073,792 (GRCm39)	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,222,567 (GRCm39)	G521S	probably benign	Het
Slit3	A	G	11: 35,554,903 (GRCm39)	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,428,523 (GRCm39)	V128A	unknown	Het
Trpc7	T	A	13: 57,035,693 (GRCm39)	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,031,824 (GRCm39)	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,051,082 (GRCm39)	I235F	probably benign	Het
Ube2q2l	A	G	6: 136,378,240 (GRCm39)	S197P	probably damaging	Het
Vmn2r118	A	T	17: 55,915,484 (GRCm39)	Y489N	probably benign	Het
Vmn2r54	G	T	7: 12,366,018 (GRCm39)	C305*	probably null	Het
Vmn2r86	G	A	10: 130,288,953 (GRCm39)	H183Y	probably benign	Het
Xrcc5	T	C	1: 72,396,016 (GRCm39)	V603A	probably damaging	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het
Zfp112	C	T	7: 23,825,063 (GRCm39)	P348S	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
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
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'- TTATCTACACCCCTGCAGCAG -3'
(R):5'- ATCACTCTCCTGCTGCAGAG -3'

Sequencing Primer
(F):5'- GAAGACTCCACCCAATTGCAGAATG -3'
(R):5'- CCTTGCATATTAAATGGAAATGCTCC -3'

Posted On

2020-07-13