Mutagenetix > Incidental Mutation

Incidental Mutation 'R7332:Afap1l2'

569334

Institutional Source

Beutler Lab

Gene Symbol

Afap1l2

Ensembl Gene

ENSMUSG00000025083

Gene Name

actin filament associated protein 1-like 2

Synonyms

MMRRC Submission

045425-MU

Accession Numbers

Essential gene?

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

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56900793-56996660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56906553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 449 (S449P)

Ref Sequence

ENSEMBL: ENSMUSP00000107210 (fasta)

Gene Model

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

AlphaFold

Q5DTU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000111584
AA Change: S449P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: S449P

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 damaging
Transcript: ENSMUST00000118800
AA Change: S431P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: S431P

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 damaging
Transcript: ENSMUST00000122359
AA Change: S375P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: S375P

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

0.1211

Coding Region Coverage

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

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0c	A	C	17: 24,388,198 (GRCm39)	S21A	probably benign	Het
Cacna1e	T	C	1: 154,601,547 (GRCm39)	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,813,213 (GRCm39)	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,250,191 (GRCm39)	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,141,243 (GRCm39)	L104Q	probably null	Het
Clk1	G	A	1: 58,451,853 (GRCm39)	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,528,061 (GRCm39)	D426V	probably damaging	Het
Cmya5	A	G	13: 93,229,061 (GRCm39)	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,419,325 (GRCm39)	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,199,356 (GRCm39)	K5R	probably benign	Het
Csmd2	A	G	4: 128,313,360 (GRCm39)	T1346A		Het
Csrp1	G	T	1: 135,667,149 (GRCm39)	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,929,817 (GRCm39)	I184T	probably damaging	Het
Egfl7	C	A	2: 26,480,725 (GRCm39)	R128S	probably benign	Het
Fggy	A	T	4: 95,511,719 (GRCm39)	N157I	probably damaging	Het
Gldc	A	T	19: 30,093,926 (GRCm39)	L697Q	probably damaging	Het
Gm4952	T	A	19: 12,604,373 (GRCm39)	Y262N	probably damaging	Het
Gsap	T	A	5: 21,495,119 (GRCm39)	M821K	probably benign	Het
Hps1	T	C	19: 42,766,351 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,280,038 (GRCm39)		probably benign	Het
Igfbp7	G	A	5: 77,499,803 (GRCm39)	T220I	probably damaging	Het
Ints3	T	C	3: 90,322,819 (GRCm39)	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,716,292 (GRCm39)	F199S	possibly damaging	Het
Kirrel1	T	C	3: 86,995,705 (GRCm39)	I410V	probably benign	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc27	A	G	7: 138,822,661 (GRCm39)	I517M	probably damaging	Het
Mas1	T	C	17: 13,061,106 (GRCm39)	T106A	probably benign	Het
Mast4	T	A	13: 102,887,932 (GRCm39)	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 93,576,780 (GRCm39)	D601G	probably damaging	Het
Mycbp2	T	A	14: 103,434,793 (GRCm39)	I2217F	probably damaging	Het
Mycbp2	A	G	14: 103,393,889 (GRCm39)	S2891P	probably damaging	Het
Naip6	A	G	13: 100,437,209 (GRCm39)	V438A	possibly damaging	Het
Or4g17	A	G	2: 111,209,738 (GRCm39)	H131R	not run	Het
Pdf	T	C	8: 107,775,173 (GRCm39)	R20G	probably benign	Het
Pfdn2	T	C	1: 171,184,162 (GRCm39)	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,841,981 (GRCm39)	N795K		Het
Ppip5k1	A	T	2: 121,142,450 (GRCm39)	V1333D	probably damaging	Het
Pramel51	T	C	12: 88,143,187 (GRCm39)	T339A	possibly damaging	Het
Prss44	A	T	9: 110,644,530 (GRCm39)	I213F	probably damaging	Het
Rbm47	A	G	5: 66,183,557 (GRCm39)	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,108,096 (GRCm39)	T253S	probably benign	Het
Rdh1	A	G	10: 127,595,754 (GRCm39)		probably benign	Het
Scn7a	C	T	2: 66,522,898 (GRCm39)	W935*	probably null	Het
Sec24b	T	C	3: 129,835,042 (GRCm39)	N52S	probably benign	Het
Serpinb5	A	T	1: 106,800,091 (GRCm39)	I94L	probably benign	Het
Setx	T	C	2: 29,036,638 (GRCm39)	V1041A	probably benign	Het
Slco3a1	G	A	7: 73,968,232 (GRCm39)	A496V	possibly damaging	Het
Spag5	T	A	11: 78,204,205 (GRCm39)	L486*	probably null	Het
Spink5	T	C	18: 44,115,317 (GRCm39)	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,759,173 (GRCm39)	Y65C	probably benign	Het
Ssh2	T	A	11: 77,344,349 (GRCm39)	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,260,172 (GRCm39)	S265L	probably damaging	Het
Syne2	T	A	12: 76,014,529 (GRCm39)		probably null	Het
Tctn1	A	T	5: 122,399,547 (GRCm39)	D92E	probably damaging	Het
Tiam2	A	G	17: 3,503,644 (GRCm39)	I940M	probably damaging	Het
Tmeff2	T	C	1: 51,018,599 (GRCm39)	W194R	unknown	Het
Tomm20	T	C	8: 127,663,903 (GRCm39)	T94A	probably benign	Het
Ucn2	A	G	9: 108,815,532 (GRCm39)	N98S	probably benign	Het
V1rd19	A	T	7: 23,702,743 (GRCm39)	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,367,503 (GRCm39)	L17P	probably benign	Het
Vmn2r61	A	G	7: 41,909,534 (GRCm39)	T20A	probably benign	Het
Wdr59	G	A	8: 112,220,986 (GRCm39)	T182I		Het
Zfp40	A	T	17: 23,395,155 (GRCm39)	C477*	probably null	Het
Zfp68	A	G	5: 138,604,830 (GRCm39)	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,757,755 (GRCm39)		probably null	Het
Zfp846	T	G	9: 20,505,521 (GRCm39)	N460K	probably benign	Het
Zim1	T	C	7: 6,680,352 (GRCm39)	Y437C	probably damaging	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
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
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'- CAGGTCTAGAAGCAAGGCTG -3'
(R):5'- TGTCACTGAGGTGTCACTATGG -3'

Sequencing Primer
(F):5'- CAAGGCTGGATTAAAAGACACAC -3'
(R):5'- CCACTGCCAGAAAATGCTATTTAGG -3'

Posted On

2019-09-13