Mutagenetix > Incidental Mutation

Incidental Mutation 'R7300:Actmap'

566922

Institutional Source

Beutler Lab

Gene Symbol

Actmap

Ensembl Gene

ENSMUSG00000078786

Gene Name

actin maturation protease

Synonyms

BC024978

MMRRC Submission

045404-MU

Accession Numbers

Essential gene?

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

Stock #

R7300 (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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,174,411 (GRCm39)		probably null	Het
Atr	T	C	9: 95,747,423 (GRCm39)	I235T	probably benign	Het
Bpifb5	A	G	2: 154,070,066 (GRCm39)	E172G	possibly damaging	Het
Btbd2	A	T	10: 80,480,100 (GRCm39)	I420N	probably damaging	Het
Ccdc141	G	A	2: 76,845,038 (GRCm39)	T1343I	probably benign	Het
Cd59b	A	T	2: 103,914,795 (GRCm39)	K64N	possibly damaging	Het
Cd63	A	G	10: 128,748,034 (GRCm39)	N144S	probably benign	Het
Cip2a	A	G	16: 48,834,217 (GRCm39)	K631E	probably damaging	Het
Col4a4	C	T	1: 82,464,361 (GRCm39)	R989Q	unknown	Het
Cyp4a31	A	G	4: 115,427,468 (GRCm39)	T225A	probably benign	Het
Dnah1	T	G	14: 30,991,798 (GRCm39)	E3068A	probably benign	Het
Fpgt	C	T	3: 154,792,612 (GRCm39)	V472I	probably damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Homer3	T	C	8: 70,737,953 (GRCm39)	M1T	probably null	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Il2ra	A	G	2: 11,681,721 (GRCm39)	T109A	not run	Het
Itgb6	T	C	2: 60,435,650 (GRCm39)	D700G	probably benign	Het
Krt31	T	C	11: 99,938,612 (GRCm39)	E327G	probably damaging	Het
Large1	A	C	8: 73,564,224 (GRCm39)	L514R	probably damaging	Het
Map3k8	C	T	18: 4,349,076 (GRCm39)	V81M	probably damaging	Het
Mstn	T	C	1: 53,103,239 (GRCm39)	S192P	probably benign	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or13a27	A	T	7: 139,925,268 (GRCm39)	N211K	probably damaging	Het
Or2n1c	A	C	17: 38,519,588 (GRCm39)	T151P	possibly damaging	Het
Or2y1c	C	T	11: 49,361,473 (GRCm39)	T165I	probably benign	Het
Or52i2	A	G	7: 102,319,417 (GRCm39)	S97G	probably benign	Het
Or7g17	T	C	9: 18,768,530 (GRCm39)	I194T	not run	Het
Or8k25	T	C	2: 86,244,330 (GRCm39)	E22G	probably null	Het
Pde4a	T	C	9: 21,117,618 (GRCm39)	S627P	probably damaging	Het
Pdxdc1	A	G	16: 13,697,374 (GRCm39)	I102T	probably damaging	Het
Phldb2	A	G	16: 45,645,925 (GRCm39)	S174P	probably damaging	Het
Pla2g4e	C	T	2: 120,021,680 (GRCm39)	V143I	probably damaging	Het
Pou4f2	C	T	8: 79,162,735 (GRCm39)		probably null	Het
Ppl	C	T	16: 4,920,235 (GRCm39)	V387M	possibly damaging	Het
Pramel43	A	T	5: 94,760,655 (GRCm39)	D340E	probably benign	Het
Rarg	A	T	15: 102,160,852 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,758,936 (GRCm39)	Y3414C	probably damaging	Het
Serpinb8	T	A	1: 107,535,053 (GRCm39)	*375K	probably null	Het
Sim1	C	T	10: 50,785,614 (GRCm39)	H228Y	probably benign	Het
Spag4	A	T	2: 155,907,541 (GRCm39)	H87L	probably benign	Het
Ttc17	A	T	2: 94,205,479 (GRCm39)	L289Q	probably damaging	Het
Ubac2	T	C	14: 122,142,586 (GRCm39)	L28P	probably damaging	Het
Vmn2r31	C	A	7: 7,387,775 (GRCm39)	A599S	possibly damaging	Het
Vps13c	T	C	9: 67,847,826 (GRCm39)	V2196A	probably benign	Het
Zswim5	A	T	4: 116,833,102 (GRCm39)	I612F	probably damaging	Het
Zzef1	T	A	11: 72,765,830 (GRCm39)	H1452Q	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
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
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'- AGGCAGTCTGGATTGACGTG -3'

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

Posted On

2019-06-26