Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Actl11'

406059

Institutional Source

Beutler Lab

Gene Symbol

Actl11

Ensembl Gene

ENSMUSG00000066368

Gene Name

actin-like 11

Synonyms

4921517D21Rik

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107805668-107809660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107808203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 842 (V842E)

Ref Sequence

ENSEMBL: ENSMUSP00000082150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035700] [ENSMUST00000085073] [ENSMUST00000193533]

AlphaFold

Q9D5V1

Predicted Effect

probably benign
Transcript: ENSMUST00000035700

SMART Domains

Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936

Domain	Start	End	E-Value	Type
S_TKc	24	286	4.21e-81	SMART
low complexity region	332	385	N/A	INTRINSIC
internal_repeat_1	392	425	3.43e-15	PROSPERO
internal_repeat_1	416	449	3.43e-15	PROSPERO
low complexity region	461	478	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085073
AA Change: V842E

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: V842E

Domain	Start	End	E-Value	Type
low complexity region	223	239	N/A	INTRINSIC
low complexity region	301	309	N/A	INTRINSIC
low complexity region	374	391	N/A	INTRINSIC
low complexity region	492	507	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
ACTIN	858	1207	4.26e-81	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192318

Predicted Effect

probably benign
Transcript: ENSMUST00000193533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193668

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,541 (GRCm39)	I581N	probably damaging	Het
Abcb10	A	G	8: 124,697,763 (GRCm39)	F187S	probably benign	Het
Akap12	A	G	10: 4,307,291 (GRCm39)	D1367G	probably benign	Het
Aoc1l1	T	A	6: 48,952,474 (GRCm39)	L133Q	probably damaging	Het
Aoc1l3	T	A	6: 48,964,509 (GRCm39)	F172L	probably benign	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,146,999 (GRCm39)	V258M	probably damaging	Het
Bptf	T	A	11: 106,972,193 (GRCm39)	K892*	probably null	Het
Cap2	A	G	13: 46,801,840 (GRCm39)	*422W	probably null	Het
Cars2	G	T	8: 11,567,854 (GRCm39)	H414N	probably benign	Het
Ccnt1	A	C	15: 98,442,124 (GRCm39)	S381R	probably benign	Het
Cdyl2	A	T	8: 117,321,794 (GRCm39)	C244*	probably null	Het
Cers2	A	G	3: 95,228,305 (GRCm39)	E115G	probably null	Het
Cpt1b	G	A	15: 89,303,477 (GRCm39)	P553S	probably benign	Het
Cuedc1	A	G	11: 88,068,136 (GRCm39)	E128G	probably damaging	Het
Dll4	T	A	2: 119,156,968 (GRCm39)	V80D	probably damaging	Het
Dop1b	T	C	16: 93,536,874 (GRCm39)	L113P	probably damaging	Het
Fam98a	A	G	17: 75,845,810 (GRCm39)	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,345,473 (GRCm39)	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,445,032 (GRCm39)	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,795,212 (GRCm39)	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,313,115 (GRCm39)	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,153,810 (GRCm39)	I687N	probably damaging	Het
Krt18	A	T	15: 101,936,955 (GRCm39)	D81V	probably damaging	Het
Lama3	A	C	18: 12,685,912 (GRCm39)	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,766,727 (GRCm39)	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,967,677 (GRCm39)	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,412,738 (GRCm39)	I1895F	unknown	Het
Myh8	G	A	11: 67,177,089 (GRCm39)	V414I	probably damaging	Het
Myo1d	A	T	11: 80,575,149 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,141,121 (GRCm39)	M889L	probably benign	Het
Oc90	C	T	15: 65,754,457 (GRCm39)	G236D	probably benign	Het
Or13a27	A	G	7: 139,925,548 (GRCm39)	V118A	probably benign	Het
Pak4	A	G	7: 28,267,631 (GRCm39)	I11T	probably damaging	Het
Papss2	T	C	19: 32,615,787 (GRCm39)	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,320,988 (GRCm39)	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,128,064 (GRCm39)	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,094,696 (GRCm39)	I174F	possibly damaging	Het
Pom121l2	G	A	13: 22,166,015 (GRCm39)	W95*	probably null	Het
Prcp	A	T	7: 92,577,843 (GRCm39)	T336S	probably benign	Het
Prdm11	A	C	2: 92,843,226 (GRCm39)	S78A	probably benign	Het
Ralgds	T	C	2: 28,435,224 (GRCm39)	I405T	probably damaging	Het
Rasgrf1	A	G	9: 89,902,478 (GRCm39)	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,458,864 (GRCm39)		probably null	Het
Rb1	A	T	14: 73,450,566 (GRCm39)	Y599*	probably null	Het
Rnf141	A	T	7: 110,433,010 (GRCm39)	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,023,698 (GRCm39)	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,477,175 (GRCm39)	V736I	probably damaging	Het
Sim2	A	T	16: 93,905,598 (GRCm39)	T141S	probably benign	Het
Slc6a15	G	T	10: 103,244,067 (GRCm39)	V436L	probably damaging	Het
Smarca2	T	C	19: 26,668,772 (GRCm39)	S924P	probably damaging	Het
Tacc1	T	C	8: 25,671,881 (GRCm39)	E449G	probably benign	Het
Tlr3	A	T	8: 45,852,137 (GRCm39)	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,456,500 (GRCm39)	A82T	probably benign	Het
Tom1l2	A	T	11: 60,133,648 (GRCm39)	L54*	probably null	Het
Trav12-2	A	G	14: 53,854,356 (GRCm39)	Y110C	probably benign	Het
Trdn	T	A	10: 33,209,247 (GRCm39)		probably null	Het
Trim36	G	T	18: 46,300,565 (GRCm39)	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,206,599 (GRCm39)	M600L	probably damaging	Het
Trpm2	T	A	10: 77,759,355 (GRCm39)	Q1143L	probably benign	Het
Usp34	T	A	11: 23,283,739 (GRCm39)	D144E	probably benign	Het
Vps18	A	T	2: 119,127,858 (GRCm39)	R894*	probably null	Het
Vwa1	A	G	4: 155,855,369 (GRCm39)	V248A	probably benign	Het
Wdr75	T	C	1: 45,838,211 (GRCm39)	V40A	probably damaging	Het

Other mutations in Actl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Actl11	APN	9	107,806,181 (GRCm39)	missense	possibly damaging	0.49
IGL01396:Actl11	APN	9	107,805,964 (GRCm39)	missense	possibly damaging	0.71
IGL01622:Actl11	APN	9	107,805,775 (GRCm39)	missense	probably benign	0.03
IGL01623:Actl11	APN	9	107,805,775 (GRCm39)	missense	probably benign	0.03
IGL01660:Actl11	APN	9	107,806,247 (GRCm39)	missense	probably benign
IGL01912:Actl11	APN	9	107,806,844 (GRCm39)	missense	probably damaging	0.98
IGL02002:Actl11	APN	9	107,806,529 (GRCm39)	missense	probably benign	0.08
IGL02266:Actl11	APN	9	107,808,382 (GRCm39)	missense	possibly damaging	0.76
IGL02535:Actl11	APN	9	107,807,136 (GRCm39)	missense	possibly damaging	0.71
IGL02692:Actl11	APN	9	107,806,507 (GRCm39)	missense	probably benign	0.06
IGL02744:Actl11	APN	9	107,807,061 (GRCm39)	missense	probably benign	0.04
IGL02864:Actl11	APN	9	107,806,186 (GRCm39)	missense	probably benign	0.25
IGL03037:Actl11	APN	9	107,807,294 (GRCm39)	missense	probably damaging	0.99
IGL03085:Actl11	APN	9	107,806,749 (GRCm39)	missense	probably damaging	0.98
R0167:Actl11	UTSW	9	107,806,969 (GRCm39)	missense	probably damaging	1.00
R0304:Actl11	UTSW	9	107,806,967 (GRCm39)	missense	probably damaging	1.00
R0959:Actl11	UTSW	9	107,808,434 (GRCm39)	missense	probably damaging	1.00
R1499:Actl11	UTSW	9	107,808,682 (GRCm39)	missense	probably damaging	1.00
R1616:Actl11	UTSW	9	107,809,135 (GRCm39)	missense	probably benign	0.39
R1694:Actl11	UTSW	9	107,807,207 (GRCm39)	missense	probably damaging	1.00
R1927:Actl11	UTSW	9	107,806,736 (GRCm39)	missense	possibly damaging	0.88
R2081:Actl11	UTSW	9	107,807,396 (GRCm39)	missense	probably benign
R2939:Actl11	UTSW	9	107,808,409 (GRCm39)	missense	possibly damaging	0.84
R3427:Actl11	UTSW	9	107,806,969 (GRCm39)	missense	probably damaging	1.00
R4812:Actl11	UTSW	9	107,808,329 (GRCm39)	missense	probably damaging	0.99
R4843:Actl11	UTSW	9	107,806,691 (GRCm39)	missense	possibly damaging	0.61
R4972:Actl11	UTSW	9	107,807,155 (GRCm39)	missense	probably benign	0.07
R4989:Actl11	UTSW	9	107,808,615 (GRCm39)	missense	probably damaging	1.00
R4996:Actl11	UTSW	9	107,808,934 (GRCm39)	missense	possibly damaging	0.77
R5546:Actl11	UTSW	9	107,806,832 (GRCm39)	missense	probably benign	0.00
R5810:Actl11	UTSW	9	107,806,420 (GRCm39)	missense	probably benign	0.23
R6302:Actl11	UTSW	9	107,806,772 (GRCm39)	missense	probably benign	0.12
R6412:Actl11	UTSW	9	107,807,116 (GRCm39)	missense	probably benign	0.01
R6835:Actl11	UTSW	9	107,807,761 (GRCm39)	missense	probably benign
R6891:Actl11	UTSW	9	107,806,346 (GRCm39)	missense	probably benign	0.03
R7195:Actl11	UTSW	9	107,806,069 (GRCm39)	nonsense	probably null
R7212:Actl11	UTSW	9	107,805,856 (GRCm39)	missense	probably damaging	0.99
R8478:Actl11	UTSW	9	107,805,844 (GRCm39)	missense	possibly damaging	0.81
R8670:Actl11	UTSW	9	107,805,959 (GRCm39)	missense	possibly damaging	0.76
R8683:Actl11	UTSW	9	107,806,065 (GRCm39)	missense	probably benign	0.15
R9114:Actl11	UTSW	9	107,808,509 (GRCm39)	missense	possibly damaging	0.62
R9233:Actl11	UTSW	9	107,807,900 (GRCm39)	missense	possibly damaging	0.91
R9280:Actl11	UTSW	9	107,808,573 (GRCm39)	missense	probably damaging	1.00
R9361:Actl11	UTSW	9	107,805,824 (GRCm39)	missense	probably damaging	1.00
R9565:Actl11	UTSW	9	107,808,121 (GRCm39)	missense	possibly damaging	0.92
X0024:Actl11	UTSW	9	107,807,704 (GRCm39)	missense	probably benign	0.01
Z1176:Actl11	UTSW	9	107,808,899 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GCAGGAACAACTTTCTTTGATCAC -3'
(R):5'- TACTGAGTAGGAGCCCTCTTGG -3'

Sequencing Primer
(F):5'- AACTTTCTTTGATCACGTTTACTGG -3'
(R):5'- CCACATATTGGGGCTGGC -3'

Posted On

2016-07-22