Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Ankrd40'

731419

Institutional Source

Beutler Lab

Gene Symbol

Ankrd40

Ensembl Gene

ENSMUSG00000020864

Gene Name

ankyrin repeat domain 40

Synonyms

5530600A18Rik, 1110011C06Rik, Gcap15

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R9731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94218827-94232667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94229250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 283 (T283I)

Ref Sequence

ENSEMBL: ENSMUSP00000061637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021227] [ENSMUST00000021231] [ENSMUST00000051221] [ENSMUST00000107818] [ENSMUST00000149867] [ENSMUST00000178136]

AlphaFold

Q5SUE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000021227
AA Change: T283I

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

SMART Domains

Protein: ENSMUSP00000021227
Gene: ENSMUSG00000020864
AA Change: T283I

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: ENSMUST00000021231

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	172	190	N/A	INTRINSIC
Pfam:ABC_membrane	310	581	4.4e-43	PFAM
AAA	652	827	2.77e-10	SMART
Pfam:ABC_membrane	963	1235	3.2e-46	PFAM
AAA	1310	1495	2.66e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000051221
AA Change: T283I

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

SMART Domains

Protein: ENSMUSP00000061637
Gene: ENSMUSG00000020864
AA Change: T283I

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: T283I

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

SMART Domains

Protein: ENSMUSP00000103448
Gene: ENSMUSG00000020864
AA Change: T283I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178136

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	172	190	N/A	INTRINSIC
Pfam:ABC_membrane	310	581	4.8e-34	PFAM
AAA	652	827	2.77e-10	SMART
coiled coil region	854	883	N/A	INTRINSIC
Pfam:ABC_membrane	967	1236	8.6e-48	PFAM
AAA	1311	1496	2.66e-12	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,362,918 (GRCm39)	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,048,679 (GRCm39)	R53W	unknown	Het
Abca9	G	T	11: 110,025,024 (GRCm39)	D1006E	probably benign	Het
Abcc6	T	A	7: 45,669,660 (GRCm39)	R132*	probably null	Het
Atr	A	G	9: 95,747,092 (GRCm39)	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep290	A	T	10: 100,346,404 (GRCm39)	L527F	probably damaging	Het
Cep295	T	C	9: 15,245,262 (GRCm39)	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ddx54	C	T	5: 120,758,807 (GRCm39)	A350V	probably benign	Het
Defb23	C	T	2: 152,301,333 (GRCm39)	V80I	probably benign	Het
Dennd5b	G	A	6: 148,970,138 (GRCm39)	T127I	probably damaging	Het
Dnah6	G	T	6: 73,168,589 (GRCm39)	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166 (GRCm39)	H1287R	probably benign	Het
Enpp7	G	A	11: 118,879,151 (GRCm39)	G37R	probably damaging	Het
Exoc2	T	C	13: 31,061,233 (GRCm39)	T554A	probably benign	Het
Fgf8	T	C	19: 45,730,846 (GRCm39)	N60D	probably benign	Het
Gdi2	A	G	13: 3,588,299 (GRCm39)	M1V	probably null	Het
Glra3	G	T	8: 56,542,058 (GRCm39)	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,598 (GRCm39)	R1455H	probably damaging	Het
Grk6	C	A	13: 55,607,640 (GRCm39)	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Hpse	G	A	5: 100,842,022 (GRCm39)	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,794,826 (GRCm39)	R506*	probably null	Het
Ing1	C	A	8: 11,611,649 (GRCm39)	T123N	probably benign	Het
Kdm2b	T	C	5: 123,125,823 (GRCm39)	D27G	probably benign	Het
Kmt2c	A	T	5: 25,577,956 (GRCm39)	D773E	probably benign	Het
Lrrc7	T	C	3: 157,880,888 (GRCm39)	D516G	probably benign	Het
Lrsam1	A	G	2: 32,835,452 (GRCm39)		probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Meak7	C	A	8: 120,498,010 (GRCm39)	A165S	probably benign	Het
Ndufaf3	T	C	9: 108,443,158 (GRCm39)	*186W	probably null	Het
Ndufaf5	C	T	2: 140,012,807 (GRCm39)	A59V	possibly damaging	Het
Nphp3	T	C	9: 103,886,369 (GRCm39)	L281S	probably damaging	Het
Or10a4	T	G	7: 106,696,786 (GRCm39)	V38G	probably benign	Het
Or4c12	T	A	2: 89,774,316 (GRCm39)	I48F	possibly damaging	Het
Or8b37	A	T	9: 37,958,892 (GRCm39)	I125F	probably damaging	Het
Otogl	G	T	10: 107,735,328 (GRCm39)	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,260,094 (GRCm39)	V38I	probably benign	Het
Polr2a	G	A	11: 69,638,043 (GRCm39)	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,476,206 (GRCm39)	R560Q	possibly damaging	Het
Ptgr3	T	G	18: 84,113,128 (GRCm39)	V268G	probably damaging	Het
Rbm33	A	G	5: 28,544,242 (GRCm39)	E166G	probably damaging	Het
Rgs14	T	A	13: 55,528,784 (GRCm39)	Y308*	probably null	Het
Rpl10a	T	C	17: 28,547,594 (GRCm39)		probably benign	Het
Rras2	A	C	7: 113,659,593 (GRCm39)	I57S	probably damaging	Het
Scn1b	C	T	7: 30,824,596 (GRCm39)	V31M	probably damaging	Het
Sema6d	G	A	2: 124,506,117 (GRCm39)	A642T	probably damaging	Het
Sis	T	A	3: 72,835,543 (GRCm39)	T940S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,904,126 (GRCm39)	Q4*	probably null	Het
Slc44a2	T	A	9: 21,263,770 (GRCm39)	I646N	possibly damaging	Het
Sprtn	C	A	8: 125,629,704 (GRCm39)	Y332*	probably null	Het
Srpk1	A	G	17: 28,825,297 (GRCm39)	I125T	probably damaging	Het
Sv2b	G	A	7: 74,786,068 (GRCm39)	H451Y	probably benign	Het
Tec	G	A	5: 72,939,439 (GRCm39)	T192M	probably benign	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trim25	C	A	11: 88,906,391 (GRCm39)	P405T	probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Tsc1	A	G	2: 28,566,486 (GRCm39)	D635G	probably benign	Het
Ttc7b	T	C	12: 100,461,683 (GRCm39)	E98G	possibly damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,376,885 (GRCm39)	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,553,361 (GRCm39)	L632M	probably benign	Het
Vps13c	C	T	9: 67,826,526 (GRCm39)	T1389I	probably benign	Het
Wasf1	T	A	10: 40,806,731 (GRCm39)	Y125N	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
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

Predicted Primers

PCR Primer
(F):5'- AGTCAGGCTTAGATGCAGCTG -3'
(R):5'- GCTATGGCTCAATAACCAAGGG -3'

Sequencing Primer
(F):5'- GACAGTGTCTCACTATGTAGTCCAG -3'
(R):5'- CCAAGGGAGAAGTTAAGTGTGCTTG -3'

Posted On

2022-11-14