Mutagenetix > Incidental Mutation

Incidental Mutation 'R7212:Actl11'

561155

Institutional Source

Beutler Lab

Gene Symbol

Actl11

Ensembl Gene

ENSMUSG00000066368

Gene Name

actin-like 11

Synonyms

4921517D21Rik

MMRRC Submission

045340-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107805668-107809660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107805856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 60 (S60T)

Ref Sequence

ENSEMBL: ENSMUSP00000082150 (fasta)

Gene Model

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

AlphaFold

Q9D5V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000085073
AA Change: S60T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: S60T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	C	T	6: 83,138,654 (GRCm39)	A193V	probably benign	Het
Aatf	C	T	11: 84,340,006 (GRCm39)	R435Q	probably damaging	Het
Abca13	A	G	11: 9,248,854 (GRCm39)	H2867R	probably benign	Het
Abcd2	C	T	15: 91,043,326 (GRCm39)	A621T	possibly damaging	Het
Adam28	T	A	14: 68,874,846 (GRCm39)	N277I	probably damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Arhgap27	C	T	11: 103,251,581 (GRCm39)	R49Q	probably damaging	Het
Armc10	T	C	5: 21,865,581 (GRCm39)	S209P	probably damaging	Het
Atp6v0a1	T	C	11: 100,934,783 (GRCm39)	F617L	probably benign	Het
Bap1	T	A	14: 30,973,580 (GRCm39)	N2K	probably damaging	Het
Bltp1	C	A	3: 37,102,158 (GRCm39)	N1363K		Het
Cass4	T	A	2: 172,269,106 (GRCm39)	L396*	probably null	Het
Ccdc40	A	G	11: 119,155,270 (GRCm39)	Q1170R	probably damaging	Het
Cdhr5	C	T	7: 140,852,572 (GRCm39)	R348H	probably damaging	Het
Cenpj	A	G	14: 56,790,109 (GRCm39)	S647P	probably benign	Het
Chordc1	T	A	9: 18,206,647 (GRCm39)		probably null	Het
Chordc1	T	C	9: 18,212,308 (GRCm39)	S41P	probably damaging	Het
Ckm	T	C	7: 19,148,978 (GRCm39)		probably null	Het
Clca3a1	A	C	3: 144,711,727 (GRCm39)	I756S	probably damaging	Het
Clcn1	T	C	6: 42,268,323 (GRCm39)	V165A	possibly damaging	Het
Clec4a4	T	A	6: 122,968,704 (GRCm39)		probably null	Het
Cog7	T	C	7: 121,576,537 (GRCm39)	K130E	probably damaging	Het
Coq7	A	G	7: 118,109,271 (GRCm39)	I259T	unknown	Het
Cp	T	C	3: 20,029,130 (GRCm39)	S536P	probably damaging	Het
Cyp2d10	T	A	15: 82,288,447 (GRCm39)		probably null	Het
Dcst2	A	G	3: 89,273,607 (GRCm39)	I162V	probably benign	Het
Dennd4c	A	G	4: 86,721,228 (GRCm39)	E630G	probably damaging	Het
Dpt	A	T	1: 164,624,484 (GRCm39)	I62F	probably benign	Het
Ednrb	T	A	14: 104,080,444 (GRCm39)	I157F	probably damaging	Het
Ext1	A	T	15: 53,208,558 (GRCm39)	W68R	probably benign	Het
Fgf4	A	G	7: 144,416,523 (GRCm39)	K152E	probably benign	Het
G530012D18Rik	A	T	1: 85,504,864 (GRCm39)	T90S	unknown	Het
Galnt17	T	C	5: 130,992,949 (GRCm39)	T322A	possibly damaging	Het
Gcm1	A	T	9: 77,966,925 (GRCm39)	D48V	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm49358	G	T	10: 86,661,071 (GRCm39)	R353L	probably damaging	Het
Golga4	A	G	9: 118,365,908 (GRCm39)	E320G	possibly damaging	Het
Herc3	T	C	6: 58,895,758 (GRCm39)	I1002T	probably damaging	Het
Hip1r	T	A	5: 124,111,845 (GRCm39)	V7E	possibly damaging	Het
Hipk1	G	A	3: 103,684,926 (GRCm39)	Q230*	probably null	Het
Igsf9b	C	T	9: 27,242,992 (GRCm39)	P726L	probably damaging	Het
Itgb6	T	C	2: 60,464,998 (GRCm39)	I345V	probably damaging	Het
Lhx4	G	T	1: 155,600,699 (GRCm39)	Q29K	probably benign	Het
Manba	A	G	3: 135,273,396 (GRCm39)	T777A	probably benign	Het
Mcm3ap	A	G	10: 76,337,145 (GRCm39)	D1360G	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mmp14	T	G	14: 54,673,336 (GRCm39)	D81E	probably damaging	Het
Naalad2	T	C	9: 18,275,337 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or7a38	A	T	10: 78,753,339 (GRCm39)	I222L	possibly damaging	Het
Or8b35	T	A	9: 37,904,253 (GRCm39)	M150K	possibly damaging	Het
Pacs2	A	G	12: 113,025,312 (GRCm39)	D488G	possibly damaging	Het
Prr5	T	G	15: 84,629,993 (GRCm39)	L108R	probably null	Het
Psg23	A	G	7: 18,341,064 (GRCm39)	S397P	probably benign	Het
Rfpl4	C	A	7: 5,113,659 (GRCm39)	R174L	probably damaging	Het
Runx3	T	A	4: 134,880,090 (GRCm39)	I3N	probably damaging	Het
Scn5a	A	T	9: 119,372,451 (GRCm39)	N214K	possibly damaging	Het
Slc27a1	T	C	8: 72,037,092 (GRCm39)	I412T	probably damaging	Het
Sptbn4	T	G	7: 27,116,210 (GRCm39)	T530P	probably benign	Het
Tex15	A	T	8: 34,060,854 (GRCm39)	R95*	probably null	Het
Tex15	T	C	8: 34,063,023 (GRCm39)	S818P	probably damaging	Het
Tmod1	A	T	4: 46,093,951 (GRCm39)	K221*	probably null	Het
Tpm3	G	A	3: 89,998,361 (GRCm39)	D272N	probably benign	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Ugt2b5	A	T	5: 87,273,131 (GRCm39)	C512S	probably benign	Het
Vmn2r82	A	T	10: 79,215,268 (GRCm39)	E417V	probably benign	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Zfp217	A	T	2: 169,956,072 (GRCm39)	S975R	probably benign	Het
Zfr	C	T	15: 12,146,309 (GRCm39)	Q287*	probably null	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
R5320:Actl11	UTSW	9	107,808,203 (GRCm39)	missense	possibly damaging	0.73
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
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'- CACCATGGCAATGAAGTGGG -3'
(R):5'- CTGAGTCCCATCATCCATGAG -3'

Sequencing Primer
(F):5'- GCAGGACTATGGAAGACACC -3'
(R):5'- GGAGATGCTCCTGGGTTCC -3'

Posted On

2019-06-26