Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Actmap'

559548

Institutional Source

Beutler Lab

Gene Symbol

Actmap

Ensembl Gene

ENSMUSG00000078786

Gene Name

actin maturation protease

Synonyms

BC024978

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

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

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26895206-26909611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26900548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 176 (A176T)

Ref Sequence

ENSEMBL: ENSMUSP00000104016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080356] [ENSMUST00000108379] [ENSMUST00000122202] [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: A176T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: A176T

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: ENSMUST00000123108

Predicted Effect

probably damaging
Transcript: ENSMUST00000155931
AA Change: A139T

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

SMART Domains

Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
AA Change: A139T

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 damaging
Transcript: ENSMUST00000179391
AA Change: A176T

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

SMART Domains

Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: A176T

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

Meta Mutation Damage Score

0.0924

Coding Region Coverage

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

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,257,722 (GRCm39)	I210N	probably benign	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,339,208 (GRCm39)	V420A	probably benign	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Il20ra	A	T	10: 19,618,689 (GRCm39)	I46F	probably damaging	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Strc	T	G	2: 121,199,507 (GRCm39)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,282,496 (GRCm39)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Tsen34	T	C	7: 3,697,806 (GRCm39)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,517,768 (GRCm39)	T250S	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTTAACTCCCACCTACCAGC -3'
(R):5'- CAGTCTGGATTGACGTGTCC -3'

Sequencing Primer
(F):5'- GAGGCAAGTCATACTTTGCCC -3'
(R):5'- CTGGATTGACGTGTCCTGGTAAC -3'

Posted On

2019-06-26