Mutagenetix > Incidental Mutation

Incidental Mutation 'R9758:Actmap'

732853

Institutional Source

Beutler Lab

Gene Symbol

Actmap

Ensembl Gene

ENSMUSG00000078786

Gene Name

actin maturation protease

Synonyms

BC024978

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R9758 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

26895206-26909611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26896655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 73 (S73P)

Ref Sequence

ENSEMBL: ENSMUSP00000104016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080356] [ENSMUST00000108379] [ENSMUST00000122202] [ENSMUST00000126211] [ENSMUST00000141378] [ENSMUST00000163311] [ENSMUST00000179391]

AlphaFold

J3QPC3

Predicted Effect

probably benign
Transcript: ENSMUST00000080356

SMART Domains

Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108379
AA Change: S73P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: S73P

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122202

SMART Domains

Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126211

SMART Domains

Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
Pfam:RRM_1	215	247	3.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141378

Predicted Effect

unknown
Transcript: ENSMUST00000155931
AA Change: S36P

SMART Domains

Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
AA Change: S36P

Domain	Start	End	E-Value	Type
low complexity region	14	44	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163311

SMART Domains

Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179391
AA Change: S73P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: S73P

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,879,799 (GRCm39)	Y220C	probably damaging	Het
Bmper	G	A	9: 23,286,902 (GRCm39)	G276D	possibly damaging	Het
C2cd5	A	T	6: 142,984,613 (GRCm39)	M549K	probably benign	Het
Caprin1	A	G	2: 103,606,283 (GRCm39)	V319A	possibly damaging	Het
Cchcr1	G	A	17: 35,839,285 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,265,783 (GRCm39)	V1383E	possibly damaging	Het
Cep350	T	C	1: 155,770,433 (GRCm39)	E1819G	probably damaging	Het
Ces4a	A	G	8: 105,869,054 (GRCm39)	E163G	possibly damaging	Het
Chrnd	C	T	1: 87,118,792 (GRCm39)	R50*	probably null	Het
Cntn3	A	G	6: 102,183,511 (GRCm39)	S715P	probably damaging	Het
Creb1	A	T	1: 64,598,909 (GRCm39)	R95S	probably benign	Het
Ctdp1	T	C	18: 80,492,710 (GRCm39)	Y595C	probably damaging	Het
Cts7	C	T	13: 61,504,223 (GRCm39)	E86K	probably damaging	Het
Dazap1	A	G	10: 80,113,440 (GRCm39)	N113S	unknown	Het
Dhdds	T	C	4: 133,727,706 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,554,938 (GRCm39)	S998P	probably damaging	Het
Dnah1	T	C	14: 30,985,395 (GRCm39)	D3832G	probably damaging	Het
Drd1	A	G	13: 54,207,182 (GRCm39)	L344P	probably damaging	Het
Fam135b	G	A	15: 71,324,199 (GRCm39)	T1256I	probably benign	Het
Fam234a	A	T	17: 26,432,627 (GRCm39)	D507E	probably benign	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Foxd4	A	T	19: 24,877,670 (GRCm39)	W177R	probably damaging	Het
Fyb2	A	G	4: 104,802,961 (GRCm39)	S288G	probably benign	Het
Gadl1	A	G	9: 115,789,519 (GRCm39)	H275R	probably benign	Het
Gbp5	A	G	3: 142,206,366 (GRCm39)	T17A	probably benign	Het
Gm1110	A	T	9: 26,800,894 (GRCm39)	Y433*	probably null	Het
Gm6408	C	A	5: 146,420,628 (GRCm39)	D169E	probably benign	Het
Gramd2b	T	A	18: 56,611,972 (GRCm39)	V145E	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hcn1	GCA	GCAACA	13: 118,112,305 (GRCm39)		probably benign	Het
Hif1an	G	A	19: 44,558,378 (GRCm39)	V293M	probably damaging	Het
Hyal3	A	G	9: 107,462,347 (GRCm39)	D127G	probably damaging	Het
Ighg1	T	A	12: 113,293,252 (GRCm39)	D146V	possibly damaging	Het
Iws1	T	A	18: 32,216,347 (GRCm39)	D362E	probably damaging	Het
Kif21b	G	A	1: 136,080,961 (GRCm39)	E601K	probably damaging	Het
Kndc1	C	A	7: 139,500,620 (GRCm39)	P662T	possibly damaging	Het
Krtap13-1	C	T	16: 88,526,229 (GRCm39)	T151I	probably benign	Het
Ndufa10	A	T	1: 92,379,752 (GRCm39)	I327N	probably benign	Het
Or10ag53	A	G	2: 87,082,439 (GRCm39)	I53V	possibly damaging	Het
Or10z1	A	G	1: 174,077,902 (GRCm39)	L197P	probably damaging	Het
Pcdhb14	T	C	18: 37,582,040 (GRCm39)	V382A	probably benign	Het
Pex1	A	T	5: 3,685,876 (GRCm39)	I1206F	probably damaging	Het
Pi4k2b	T	A	5: 52,918,331 (GRCm39)	D386E	probably benign	Het
Pik3c2a	A	G	7: 115,945,427 (GRCm39)	F1460L	probably damaging	Het
Plcb2	A	C	2: 118,545,921 (GRCm39)	M588R	probably damaging	Het
Prl7d1	C	A	13: 27,893,260 (GRCm39)	R216L	possibly damaging	Het
Psg28	G	T	7: 18,156,887 (GRCm39)	Y449*	probably null	Het
Psg28	T	A	7: 18,164,602 (GRCm39)	T37S	probably benign	Het
Psmd9	G	T	5: 123,372,745 (GRCm39)	R76M	probably damaging	Het
Rfc1	T	C	5: 65,459,391 (GRCm39)	D189G	probably benign	Het
Rnf207	A	G	4: 152,397,666 (GRCm39)	S363P	probably benign	Het
Sco1	T	A	11: 66,949,250 (GRCm39)	D239E	probably damaging	Het
Sec24d	C	T	3: 123,136,803 (GRCm39)	T512M	probably damaging	Het
Shkbp1	T	C	7: 27,046,442 (GRCm39)	K441E	probably benign	Het
Slc44a5	A	T	3: 153,959,322 (GRCm39)	I338F	probably damaging	Het
Slc4a3	A	T	1: 75,534,319 (GRCm39)	I1161F	probably damaging	Het
Spmip11	T	A	15: 98,483,264 (GRCm39)	L65I	probably damaging	Het
Tnfsf9	T	A	17: 57,414,355 (GRCm39)	L261M	probably damaging	Het
Trim55	C	T	3: 19,699,498 (GRCm39)	R77C	probably damaging	Het
Vmn2r27	A	G	6: 124,168,637 (GRCm39)	I831T	possibly damaging	Het
Vwa3b	A	G	1: 37,081,438 (GRCm39)	I60V	probably benign	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Zfp54	T	A	17: 21,654,149 (GRCm39)	N214K	probably benign	Het
Zfp707	T	C	15: 75,845,418 (GRCm39)	I94T		Het

Other mutations in Actmap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02654:Actmap	APN	7	26,903,298 (GRCm39)	missense	probably damaging	0.97
IGL03092:Actmap	APN	7	26,900,561 (GRCm39)	missense	probably damaging	1.00
IGL03184:Actmap	APN	7	26,896,432 (GRCm39)	utr 5 prime	probably benign
IGL03348:Actmap	APN	7	26,896,545 (GRCm39)	splice site	probably null
R0245:Actmap	UTSW	7	26,900,028 (GRCm39)	missense	possibly damaging	0.92
R0650:Actmap	UTSW	7	26,902,072 (GRCm39)	missense	probably damaging	1.00
R1522:Actmap	UTSW	7	26,902,105 (GRCm39)	missense	probably damaging	1.00
R4731:Actmap	UTSW	7	26,900,468 (GRCm39)	missense	probably damaging	1.00
R4732:Actmap	UTSW	7	26,900,468 (GRCm39)	missense	probably damaging	1.00
R4733:Actmap	UTSW	7	26,900,468 (GRCm39)	missense	probably damaging	1.00
R5502:Actmap	UTSW	7	26,896,542 (GRCm39)	missense	possibly damaging	0.90
R6672:Actmap	UTSW	7	26,903,489 (GRCm39)	intron	probably benign
R7190:Actmap	UTSW	7	26,900,548 (GRCm39)	missense	probably damaging	1.00
R7191:Actmap	UTSW	7	26,900,548 (GRCm39)	missense	probably damaging	1.00
R7299:Actmap	UTSW	7	26,900,548 (GRCm39)	missense	probably damaging	1.00
R7300:Actmap	UTSW	7	26,900,548 (GRCm39)	missense	probably damaging	1.00
R8716:Actmap	UTSW	7	26,896,631 (GRCm39)	missense	probably damaging	0.96
R8780:Actmap	UTSW	7	26,900,503 (GRCm39)	missense	probably benign	0.01
R8952:Actmap	UTSW	7	26,900,025 (GRCm39)	missense	probably damaging	1.00
X0003:Actmap	UTSW	7	26,901,916 (GRCm39)	missense	probably benign	0.07
X0024:Actmap	UTSW	7	26,900,516 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCAAATGACTTCTCCATGC -3'
(R):5'- TGGCTGTGGTGACTTGTAATCA -3'

Sequencing Primer
(F):5'- AATCTCTCCAATAATTCATGAGACCC -3'
(R):5'- AATCAGGTGATTGTCTGAGATCTG -3'

Posted On

2022-11-14