Mutagenetix > Incidental Mutation

Incidental Mutation 'R1274:Afap1l2'

150853

Institutional Source

Beutler Lab

Gene Symbol

Afap1l2

Ensembl Gene

ENSMUSG00000025083

Gene Name

actin filament associated protein 1-like 2

Synonyms

MMRRC Submission

039340-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56900793-56996660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56902995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 728 (D728G)

Ref Sequence

ENSEMBL: ENSMUSP00000107210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026068] [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359]

AlphaFold

Q5DTU0

Predicted Effect

probably benign
Transcript: ENSMUST00000026068

SMART Domains

Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWA	49	222	6.9e-35	SMART
EGF	297	332	2.99e-4	SMART
VWA	340	517	1.26e-28	SMART
VWA	528	705	1.55e-37	SMART
EGF	714	747	5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111584
AA Change: D728G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: D728G

Domain	Start	End	E-Value	Type
Blast:PH	30	153	3e-60	BLAST
low complexity region	160	170	N/A	INTRINSIC
PH	194	291	9.27e-9	SMART
PH	372	467	3.11e-10	SMART
low complexity region	531	543	N/A	INTRINSIC
low complexity region	611	626	N/A	INTRINSIC
coiled coil region	675	772	N/A	INTRINSIC
low complexity region	791	804	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118800
AA Change: D710G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: D710G

Domain	Start	End	E-Value	Type
Blast:PH	12	135	3e-60	BLAST
low complexity region	142	152	N/A	INTRINSIC
PH	176	273	9.27e-9	SMART
PH	354	449	3.11e-10	SMART
low complexity region	513	525	N/A	INTRINSIC
low complexity region	593	608	N/A	INTRINSIC
coiled coil region	657	754	N/A	INTRINSIC
low complexity region	773	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122359
AA Change: D654G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: D654G

Domain	Start	End	E-Value	Type
Blast:PH	1	79	3e-32	BLAST
low complexity region	86	96	N/A	INTRINSIC
PH	120	217	9.27e-9	SMART
PH	298	393	3.11e-10	SMART
low complexity region	457	469	N/A	INTRINSIC
low complexity region	537	552	N/A	INTRINSIC
coiled coil region	601	698	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ceacam3	A	G	7: 16,897,064 (GRCm39)	R677G	probably damaging	Het
Col16a1	T	A	4: 129,991,594 (GRCm39)	M1431K	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Gm6563	A	T	19: 23,653,701 (GRCm39)	I164F	probably benign	Het
Msantd5f6	T	C	4: 73,321,313 (GRCm39)	Y148C	probably damaging	Het
Nav2	C	A	7: 49,254,178 (GRCm39)	Y2325*	probably null	Het
Or10ak12	T	C	4: 118,666,593 (GRCm39)	N156S	probably benign	Het
Or5d36	A	C	2: 87,900,939 (GRCm39)	C262W	probably damaging	Het
P2ry12	T	C	3: 59,124,641 (GRCm39)	T345A	possibly damaging	Het
Ptpn13	C	T	5: 103,698,126 (GRCm39)	P1078S	probably damaging	Het
Rgs20	G	A	1: 4,982,670 (GRCm39)	T166I	probably damaging	Het
Sik1	A	T	17: 32,065,549 (GRCm39)	L683Q	possibly damaging	Het
Slc7a5	C	T	8: 122,610,453 (GRCm39)	V454M	probably benign	Het
Snx30	A	G	4: 59,885,133 (GRCm39)	T258A	probably benign	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het
Zfp335	GTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTC	2: 164,749,388 (GRCm39)		probably benign	Het

Other mutations in Afap1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Afap1l2	APN	19	56,990,740 (GRCm39)	splice site	probably benign
IGL01012:Afap1l2	APN	19	56,918,693 (GRCm39)	missense	probably damaging	0.98
IGL01089:Afap1l2	APN	19	56,901,843 (GRCm39)	splice site	probably null
IGL01150:Afap1l2	APN	19	56,918,618 (GRCm39)	missense	probably damaging	0.99
IGL02393:Afap1l2	APN	19	56,902,872 (GRCm39)	missense	probably damaging	1.00
IGL02887:Afap1l2	APN	19	56,908,995 (GRCm39)	missense	probably damaging	1.00
IGL03060:Afap1l2	APN	19	56,902,682 (GRCm39)	nonsense	probably null
R0102:Afap1l2	UTSW	19	56,916,872 (GRCm39)	unclassified	probably benign
R0102:Afap1l2	UTSW	19	56,916,872 (GRCm39)	unclassified	probably benign
R0282:Afap1l2	UTSW	19	56,904,653 (GRCm39)	missense	possibly damaging	0.65
R0388:Afap1l2	UTSW	19	56,905,674 (GRCm39)	splice site	probably benign
R0432:Afap1l2	UTSW	19	56,905,551 (GRCm39)	splice site	probably benign
R0497:Afap1l2	UTSW	19	56,918,641 (GRCm39)	missense	probably benign	0.27
R0578:Afap1l2	UTSW	19	56,904,214 (GRCm39)	missense	probably benign	0.04
R0631:Afap1l2	UTSW	19	56,904,517 (GRCm39)	missense	probably benign	0.39
R0670:Afap1l2	UTSW	19	56,904,235 (GRCm39)	missense	probably damaging	1.00
R1188:Afap1l2	UTSW	19	56,913,501 (GRCm39)	missense	probably damaging	0.97
R1236:Afap1l2	UTSW	19	56,904,904 (GRCm39)	missense	possibly damaging	0.64
R1463:Afap1l2	UTSW	19	56,918,583 (GRCm39)	missense	probably benign	0.01
R1497:Afap1l2	UTSW	19	56,916,743 (GRCm39)	missense	probably benign	0.25
R1597:Afap1l2	UTSW	19	56,902,881 (GRCm39)	missense	probably benign	0.14
R1778:Afap1l2	UTSW	19	56,904,638 (GRCm39)	missense	possibly damaging	0.68
R1795:Afap1l2	UTSW	19	56,916,841 (GRCm39)	missense	probably damaging	1.00
R1991:Afap1l2	UTSW	19	56,990,699 (GRCm39)	missense	possibly damaging	0.62
R2113:Afap1l2	UTSW	19	56,901,821 (GRCm39)	missense	possibly damaging	0.95
R2242:Afap1l2	UTSW	19	56,902,900 (GRCm39)	missense	possibly damaging	0.56
R3429:Afap1l2	UTSW	19	56,904,238 (GRCm39)	missense	probably damaging	1.00
R3430:Afap1l2	UTSW	19	56,904,238 (GRCm39)	missense	probably damaging	1.00
R3698:Afap1l2	UTSW	19	56,904,955 (GRCm39)	missense	possibly damaging	0.69
R4706:Afap1l2	UTSW	19	56,925,672 (GRCm39)	missense	possibly damaging	0.76
R4956:Afap1l2	UTSW	19	56,931,879 (GRCm39)	missense	probably benign	0.00
R4993:Afap1l2	UTSW	19	56,906,472 (GRCm39)	missense	probably damaging	1.00
R5772:Afap1l2	UTSW	19	56,911,406 (GRCm39)	missense	probably benign	0.02
R5878:Afap1l2	UTSW	19	56,904,107 (GRCm39)	missense	probably benign	0.01
R6194:Afap1l2	UTSW	19	56,911,383 (GRCm39)	missense	probably damaging	1.00
R6226:Afap1l2	UTSW	19	56,904,560 (GRCm39)	missense	probably benign	0.00
R6334:Afap1l2	UTSW	19	56,906,408 (GRCm39)	splice site	probably null
R6439:Afap1l2	UTSW	19	56,916,818 (GRCm39)	missense	possibly damaging	0.91
R7332:Afap1l2	UTSW	19	56,906,553 (GRCm39)	missense	probably damaging	1.00
R7524:Afap1l2	UTSW	19	56,906,543 (GRCm39)	missense	probably damaging	1.00
R7577:Afap1l2	UTSW	19	56,933,199 (GRCm39)	missense	probably damaging	1.00
R7696:Afap1l2	UTSW	19	56,902,918 (GRCm39)	missense	probably damaging	1.00
R7741:Afap1l2	UTSW	19	56,902,914 (GRCm39)	missense	probably damaging	1.00
R7940:Afap1l2	UTSW	19	56,902,597 (GRCm39)	missense	probably damaging	0.99
R8221:Afap1l2	UTSW	19	56,902,824 (GRCm39)	missense	probably damaging	1.00
R9037:Afap1l2	UTSW	19	56,918,403 (GRCm39)	unclassified	probably benign
R9114:Afap1l2	UTSW	19	56,906,427 (GRCm39)	missense	probably damaging	1.00
R9201:Afap1l2	UTSW	19	56,916,688 (GRCm39)	missense	probably damaging	1.00
R9623:Afap1l2	UTSW	19	56,906,462 (GRCm39)	missense	probably damaging	1.00
R9674:Afap1l2	UTSW	19	56,922,195 (GRCm39)	missense	probably damaging	0.96
X0062:Afap1l2	UTSW	19	56,906,465 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCCAGGTGCGTGGTATCCA -3'
(R):5'- GAGTCCATTTGTCTAGCAGTGAACCC -3'

Sequencing Primer
(F):5'- TATCCACAGTGGTGCCCAG -3'
(R):5'- aagaaaggatgtaaggtgggg -3'

Posted On

2014-01-29