Mutagenetix > Incidental Mutation

Incidental Mutation 'R1597:Afap1l2'

175914

Institutional Source

Beutler Lab

Gene Symbol

Afap1l2

Ensembl Gene

ENSMUSG00000025083

Gene Name

actin filament associated protein 1-like 2

Synonyms

MMRRC Submission

039634-MU

Accession Numbers

Essential gene?

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

Stock #

R1597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56900793-56996660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56902881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 748 (N748S)

Ref Sequence

ENSEMBL: ENSMUSP00000113745 (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: N766S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: N766S

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: N748S

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: N748S

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: N692S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: N692S

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

Meta Mutation Damage Score

0.0624

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	T	19: 34,229,983 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,326 (GRCm39)	I77N	probably damaging	Het
Ap1s1	A	T	5: 137,072,095 (GRCm39)	M20K	probably damaging	Het
Atad3a	A	T	4: 155,835,892 (GRCm39)		probably null	Het
Atp1b1	G	T	1: 164,265,889 (GRCm39)	R291S	probably damaging	Het
Birc7	T	C	2: 180,570,974 (GRCm39)	V12A	possibly damaging	Het
Btnl2	T	C	17: 34,582,211 (GRCm39)	V259A	probably damaging	Het
Cdh11	A	T	8: 103,377,343 (GRCm39)	N434K	probably benign	Het
Cel	G	T	2: 28,450,479 (GRCm39)		probably benign	Het
Col10a1	A	G	10: 34,271,074 (GRCm39)	K349E	probably damaging	Het
Ddhd2	A	G	8: 26,239,768 (GRCm39)	V315A	probably benign	Het
Dnah17	C	A	11: 117,994,324 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,595,474 (GRCm39)	T441A	probably benign	Het
Ermap	A	T	4: 119,041,152 (GRCm39)	I286N	probably damaging	Het
Fbxl17	T	C	17: 63,794,813 (GRCm39)	K423R	probably damaging	Het
Frem2	T	C	3: 53,561,940 (GRCm39)	T856A	probably benign	Het
Gas6	T	C	8: 13,543,901 (GRCm39)	E64G	probably damaging	Het
Gzma	T	A	13: 113,232,331 (GRCm39)	N190I	probably damaging	Het
Ifngr1	C	T	10: 19,485,090 (GRCm39)	T363M	probably damaging	Het
Itga7	A	G	10: 128,782,732 (GRCm39)	T690A	probably benign	Het
Kif15	A	G	9: 122,823,074 (GRCm39)	E485G	probably benign	Het
Kif18a	A	G	2: 109,123,336 (GRCm39)	I203M	probably damaging	Het
Klhl1	A	T	14: 96,438,647 (GRCm39)		probably null	Het
Lrch3	C	T	16: 32,770,781 (GRCm39)	Q128*	probably null	Het
Lrriq4	C	G	3: 30,705,037 (GRCm39)	P355R	probably damaging	Het
Mcm10	A	T	2: 5,003,563 (GRCm39)	H551Q	probably damaging	Het
Mcm3ap	T	C	10: 76,319,060 (GRCm39)	F763L	probably damaging	Het
Mdc1	T	A	17: 36,156,758 (GRCm39)	V55E	probably damaging	Het
Me2	A	T	18: 73,931,016 (GRCm39)	N92K	probably damaging	Het
Mtss1	A	G	15: 58,815,560 (GRCm39)	S667P	probably damaging	Het
Mup5	A	T	4: 61,753,317 (GRCm39)	Y15N	possibly damaging	Het
Mx1	T	A	16: 97,256,329 (GRCm39)	M197L	probably damaging	Het
N4bp2	C	T	5: 65,964,483 (GRCm39)	T844I	probably benign	Het
Nlrc3	T	A	16: 3,781,859 (GRCm39)	R517W	probably damaging	Het
Nos3	A	T	5: 24,573,995 (GRCm39)	I227F	probably damaging	Het
Or52a5	A	G	7: 103,427,267 (GRCm39)	F95S	probably benign	Het
Pabpc2	A	G	18: 39,906,953 (GRCm39)	N73D	probably damaging	Het
Pcdhb18	A	G	18: 37,624,820 (GRCm39)	R717G	probably benign	Het
Pcsk5	T	A	19: 17,413,964 (GRCm39)	M1702L	probably benign	Het
Plxna2	A	C	1: 194,431,614 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,630,755 (GRCm39)	M1221T	possibly damaging	Het
Polr2b	A	G	5: 77,473,948 (GRCm39)	D384G	probably damaging	Het
Ppl	T	A	16: 4,925,438 (GRCm39)	H67L	probably benign	Het
Psmd5	A	G	2: 34,757,035 (GRCm39)	L63S	probably damaging	Het
Psme1	A	G	14: 55,818,222 (GRCm39)	T150A	probably damaging	Het
Rapgef5	C	T	12: 117,621,940 (GRCm39)	R33C	probably damaging	Het
Rela	G	A	19: 5,695,359 (GRCm39)	R295H	probably damaging	Het
Rpe65	T	A	3: 159,320,421 (GRCm39)	V326E	probably damaging	Het
Scn5a	C	A	9: 119,391,563 (GRCm39)	R43L	probably damaging	Het
Skida1	T	C	2: 18,051,143 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,283,587 (GRCm39)	A469T	probably benign	Het
Spaca7	G	T	8: 12,630,991 (GRCm39)	E48*	probably null	Het
Syn3	G	T	10: 85,970,908 (GRCm39)	T238K	probably benign	Het
Taok1	A	G	11: 77,470,626 (GRCm39)	S60P	probably benign	Het
Tecpr1	A	G	5: 144,151,128 (GRCm39)	I256T	probably benign	Het
Tenm4	T	A	7: 96,552,196 (GRCm39)		probably null	Het
Tex15	A	G	8: 34,061,511 (GRCm39)	T588A	probably damaging	Het
Tgfbi	T	A	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem62	G	A	2: 120,814,843 (GRCm39)	A169T	probably benign	Het
Tnc	A	G	4: 63,924,621 (GRCm39)	S1026P	probably benign	Het
Tnik	T	C	3: 28,658,418 (GRCm39)	S568P	probably damaging	Het
Trpm6	A	T	19: 18,804,888 (GRCm39)	I947F	probably damaging	Het
Ttc27	T	A	17: 75,170,402 (GRCm39)	L832Q	possibly damaging	Het
U2surp	C	T	9: 95,363,793 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,841,064 (GRCm39)	D1009E	possibly damaging	Het
Unc13d	T	C	11: 115,965,262 (GRCm39)	E192G	probably benign	Het
Vmn2r71	T	C	7: 85,273,352 (GRCm39)	V722A	possibly damaging	Het
Zfp386	T	C	12: 116,023,709 (GRCm39)	S476P	probably damaging	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zfyve16	T	A	13: 92,644,755 (GRCm39)	N1149I	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
R1274:Afap1l2	UTSW	19	56,902,995 (GRCm39)	missense	probably benign	0.02
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
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'- TCACTCAGAGCTAGTGCAAAAGCC -3'
(R):5'- AGAAACCTTCCTCTACCCAGCATGG -3'

Sequencing Primer
(F):5'- GTTCTTGAGCACAGATGCAG -3'
(R):5'- GGTTCTCTATCCTCTCTACAGATAAG -3'

Posted On

2014-04-24