Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03348:Actmap'

419575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actmap

Ensembl Gene

ENSMUSG00000078786

Gene Name

actin maturation protease

Synonyms

BC024978

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

IGL03348

Quality Score

Status

Chromosome

Chromosomal Location

26895206-26909611 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 26896545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably damaging
Transcript: ENSMUST00000108379
AA Change: L36R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: L36R

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

probably null
Transcript: ENSMUST00000155931

SMART Domains

Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786

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

probably damaging
Transcript: ENSMUST00000179391
AA Change: L36R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: L36R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206439

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	C	8: 100,148,324 (GRCm39)		noncoding transcript	Het
Adgrv1	T	C	13: 81,647,177 (GRCm39)	N3121S	possibly damaging	Het
Aldh16a1	C	T	7: 44,791,399 (GRCm39)	R102Q	possibly damaging	Het
Atp9b	A	T	18: 80,879,637 (GRCm39)	I346K	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,341 (GRCm39)	K388R	probably benign	Het
Cfap65	A	C	1: 74,966,778 (GRCm39)	I303S	probably damaging	Het
Chd5	C	T	4: 152,461,142 (GRCm39)	P1244L	probably damaging	Het
Col12a1	A	G	9: 79,600,712 (GRCm39)	S791P	possibly damaging	Het
Ctsz	T	A	2: 174,270,490 (GRCm39)	I231F	probably damaging	Het
Dnah8	A	G	17: 30,965,960 (GRCm39)	T2431A	probably damaging	Het
Eif4b	T	C	15: 102,001,466 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,809 (GRCm39)	I67V	possibly damaging	Het
Exoc1	T	A	5: 76,683,440 (GRCm39)	V55D	probably damaging	Het
Exosc8	A	T	3: 54,640,143 (GRCm39)	D72E	possibly damaging	Het
F5	C	T	1: 164,021,721 (GRCm39)	P1399S	possibly damaging	Het
Fmo1	T	A	1: 162,677,720 (GRCm39)	N132I	possibly damaging	Het
Fndc1	T	A	17: 7,991,479 (GRCm39)	H739L	unknown	Het
Glb1l2	T	C	9: 26,676,976 (GRCm39)	D415G	probably benign	Het
Gphn	T	A	12: 78,673,893 (GRCm39)	H498Q	probably damaging	Het
Lrrc56	A	G	7: 140,787,153 (GRCm39)	N342S	probably benign	Het
Mbnl3	G	A	X: 50,253,425 (GRCm39)	T16I	probably damaging	Het
Mrps5	T	G	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Neu4	A	G	1: 93,952,696 (GRCm39)	Y355C	possibly damaging	Het
Obscn	A	T	11: 58,941,188 (GRCm39)	D5105E	probably damaging	Het
Or4ac1-ps1	T	C	2: 88,370,485 (GRCm39)		noncoding transcript	Het
Or4f56	C	A	2: 111,703,493 (GRCm39)	A236S	probably damaging	Het
Or4k15b	A	G	14: 50,272,212 (GRCm39)	I216T	probably benign	Het
Or5p73	A	G	7: 108,064,615 (GRCm39)	D28G	probably benign	Het
Parp1	T	A	1: 180,405,272 (GRCm39)		probably benign	Het
Plac1	A	T	X: 52,159,517 (GRCm39)	N64K	probably damaging	Het
Plcd1	C	A	9: 118,901,558 (GRCm39)	K655N	possibly damaging	Het
Psme4	T	C	11: 30,826,796 (GRCm39)	S1772P	probably damaging	Het
Shcbp1	C	T	8: 4,815,089 (GRCm39)	V130I	probably benign	Het
Slc25a11	T	C	11: 70,536,170 (GRCm39)		probably benign	Het
Svep1	C	T	4: 58,113,635 (GRCm39)	G1004E	probably damaging	Het
Tars2	T	C	3: 95,647,580 (GRCm39)		probably null	Het
Tbc1d12	C	T	19: 38,905,064 (GRCm39)	T593I	probably damaging	Het
Tcerg1l	T	A	7: 137,815,100 (GRCm39)	E526D	probably damaging	Het
Tmcc3	G	A	10: 94,414,942 (GRCm39)	V215M	possibly damaging	Het
Trappc8	T	C	18: 20,985,838 (GRCm39)	D601G	probably damaging	Het
Trp53bp2	T	A	1: 182,281,313 (GRCm39)	N971K	probably damaging	Het
Ube2g2	A	T	10: 77,466,711 (GRCm39)	E36D	probably benign	Het
Uggt2	T	A	14: 119,308,300 (GRCm39)	R360S	probably benign	Het
Utp20	A	G	10: 88,594,179 (GRCm39)	V2182A	probably benign	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
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
R9758:Actmap	UTSW	7	26,896,655 (GRCm39)	missense	possibly damaging	0.83
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

Posted On

2016-08-02