Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:Afap1l1'

608544

Institutional Source

Beutler Lab

Gene Symbol

Afap1l1

Ensembl Gene

ENSMUSG00000033032

Gene Name

actin filament associated protein 1-like 1

Synonyms

MMRRC Submission

045929-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7877 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61863333-61919733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61879853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 339 (D339V)

Ref Sequence

ENSEMBL: ENSMUSP00000113286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120472] [ENSMUST00000154876]

AlphaFold

Q8BZI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000120472
AA Change: D339V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: D339V

Domain	Start	End	E-Value	Type
low complexity region	114	123	N/A	INTRINSIC
low complexity region	186	199	N/A	INTRINSIC
PH	221	318	4.13e-6	SMART
PH	419	514	9.41e-10	SMART
coiled coil region	611	701	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154876

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,665 (GRCm39)	C388Y	probably damaging	Het
4930522L14Rik	G	A	5: 109,884,230 (GRCm39)	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135 (GRCm39)	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,602,997 (GRCm39)	K531*	probably null	Het
Adgrf5	A	T	17: 43,752,729 (GRCm39)	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,842,467 (GRCm39)	E865G	probably benign	Het
Adprhl1	T	A	8: 13,275,316 (GRCm39)	R481*	probably null	Het
Atp9b	T	A	18: 80,890,412 (GRCm39)	H309L		Het
Baiap3	A	G	17: 25,470,112 (GRCm39)	V122A	probably damaging	Het
Btg4	T	C	9: 51,029,240 (GRCm39)	S142P	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdca2	T	A	14: 67,914,665 (GRCm39)	T865S	probably benign	Het
Cdk12	A	G	11: 98,131,661 (GRCm39)	Y964C	unknown	Het
Cenpo	A	T	12: 4,264,573 (GRCm39)	F273Y	probably damaging	Het
Cfap96	T	A	8: 46,423,436 (GRCm39)	K92M	probably damaging	Het
Chac1	T	A	2: 119,183,987 (GRCm39)	D196E	probably damaging	Het
Clec4n	T	C	6: 123,209,063 (GRCm39)	F43L	probably benign	Het
Colgalt1	T	A	8: 72,074,508 (GRCm39)	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,906,830 (GRCm39)		probably null	Het
Cyp2b23	T	A	7: 26,385,851 (GRCm39)	E2V	probably damaging	Het
Cyp51	T	A	5: 4,152,929 (GRCm39)	K91M	probably damaging	Het
Cyria	A	C	12: 12,414,798 (GRCm39)	Y263S	probably benign	Het
Dnah8	G	T	17: 30,882,348 (GRCm39)	G640V	probably benign	Het
Dnajc2	G	T	5: 21,965,637 (GRCm39)	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,191,053 (GRCm39)	L110H	probably damaging	Het
Fem1b	T	A	9: 62,703,844 (GRCm39)	Y472F	probably benign	Het
Frem1	A	G	4: 82,932,049 (GRCm39)		probably null	Het
Gabrg1	A	T	5: 70,973,415 (GRCm39)	D46E	probably damaging	Het
Gbp4	T	C	5: 105,266,161 (GRCm39)	K627E	probably benign	Het
Glis1	A	G	4: 107,491,900 (GRCm39)	D776G	probably damaging	Het
Gm4847	A	G	1: 166,467,575 (GRCm39)	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,759,741 (GRCm39)	Y1213*	probably null	Het
Gm8229	T	A	14: 44,604,033 (GRCm39)	L74*	probably null	Het
Hc	A	T	2: 34,887,411 (GRCm39)	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,443,302 (GRCm39)	S186R	unknown	Het
Hrh4	A	G	18: 13,155,582 (GRCm39)	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,311,490 (GRCm39)	L975P	probably damaging	Het
Intu	G	A	3: 40,654,222 (GRCm39)	V905I	probably benign	Het
Large1	T	A	8: 73,843,071 (GRCm39)	R151W	probably damaging	Het
Limd2	G	A	11: 106,050,004 (GRCm39)	T24M	probably benign	Het
Med16	A	T	10: 79,734,206 (GRCm39)	C569*	probably null	Het
Mettl1	T	G	10: 126,880,390 (GRCm39)	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,220,900 (GRCm39)	T61A	probably benign	Het
Mrps31	T	A	8: 22,914,367 (GRCm39)	Y238N	probably benign	Het
Mrs2	T	C	13: 25,181,113 (GRCm39)	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Noxred1	G	A	12: 87,271,761 (GRCm39)	A136V	probably benign	Het
Obscn	T	A	11: 59,024,588 (GRCm39)	D484V	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,381,431 (GRCm39)	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,882,434 (GRCm39)	C680Y	probably benign	Het
Plxna1	A	G	6: 89,300,241 (GRCm39)	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,147,235 (GRCm39)	M1129V	probably benign	Het
Prp2	C	T	6: 132,572,928 (GRCm39)	T7I	unknown	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Sdhaf3	C	T	6: 7,038,855 (GRCm39)	T59M	probably benign	Het
Slc17a6	T	A	7: 51,275,253 (GRCm39)	I104N	probably benign	Het
Slc35c1	A	T	2: 92,289,402 (GRCm39)	W48R	probably damaging	Het
Slc5a4b	A	T	10: 75,910,886 (GRCm39)	C317S	probably damaging	Het
Smim13	G	T	13: 41,403,650 (GRCm39)		probably benign	Het
Snrpg	T	C	6: 86,355,761 (GRCm39)	V76A	probably benign	Het
Sntb2	C	T	8: 107,738,164 (GRCm39)	T509I	probably benign	Het
Sptbn1	T	C	11: 30,079,601 (GRCm39)	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,794,290 (GRCm39)	E1498G	possibly damaging	Het
Stau1	T	A	2: 166,792,787 (GRCm39)	N393Y	possibly damaging	Het
Tars2	A	T	3: 95,653,401 (GRCm39)	S500T	probably damaging	Het
Tbc1d23	A	T	16: 56,993,488 (GRCm39)	D559E	probably benign	Het
Trav14-2	T	C	14: 53,878,508 (GRCm39)	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,882,148 (GRCm39)	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,903,541 (GRCm39)	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,013,431 (GRCm39)	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,508,437 (GRCm39)	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,666,863 (GRCm39)	R56K	probably benign	Het
Zfp616	G	T	11: 73,975,188 (GRCm39)	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,704,580 (GRCm39)	F453Y	possibly damaging	Het

Other mutations in Afap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Afap1l1	APN	18	61,869,925 (GRCm39)	missense	probably benign	0.04
IGL01643:Afap1l1	APN	18	61,884,897 (GRCm39)	missense	probably damaging	1.00
IGL01754:Afap1l1	APN	18	61,870,565 (GRCm39)	critical splice donor site	probably null
IGL01945:Afap1l1	APN	18	61,889,934 (GRCm39)	missense	probably benign	0.00
IGL02025:Afap1l1	APN	18	61,866,770 (GRCm39)	splice site	probably benign
IGL02413:Afap1l1	APN	18	61,866,860 (GRCm39)	missense	probably benign	0.00
IGL02418:Afap1l1	APN	18	61,885,648 (GRCm39)	missense	probably damaging	1.00
IGL02493:Afap1l1	APN	18	61,870,594 (GRCm39)	missense	possibly damaging	0.83
IGL02888:Afap1l1	APN	18	61,881,879 (GRCm39)	missense	probably damaging	1.00
IGL03010:Afap1l1	APN	18	61,876,390 (GRCm39)	missense	probably benign	0.01
IGL03122:Afap1l1	APN	18	61,866,902 (GRCm39)	missense	probably benign
IGL03145:Afap1l1	APN	18	61,874,880 (GRCm39)	missense	possibly damaging	0.93
IGL03052:Afap1l1	UTSW	18	61,881,894 (GRCm39)	missense	probably benign	0.00
R0008:Afap1l1	UTSW	18	61,889,976 (GRCm39)	missense	probably benign	0.11
R0008:Afap1l1	UTSW	18	61,889,976 (GRCm39)	missense	probably benign	0.11
R0217:Afap1l1	UTSW	18	61,879,940 (GRCm39)	missense	probably damaging	1.00
R0421:Afap1l1	UTSW	18	61,884,945 (GRCm39)	missense	probably damaging	1.00
R0626:Afap1l1	UTSW	18	61,872,291 (GRCm39)	missense	probably benign	0.07
R0963:Afap1l1	UTSW	18	61,870,001 (GRCm39)	missense	probably damaging	1.00
R1403:Afap1l1	UTSW	18	61,874,909 (GRCm39)	missense	probably damaging	1.00
R1403:Afap1l1	UTSW	18	61,874,909 (GRCm39)	missense	probably damaging	1.00
R1566:Afap1l1	UTSW	18	61,888,714 (GRCm39)	missense	probably benign
R1572:Afap1l1	UTSW	18	61,870,570 (GRCm39)	missense	probably damaging	1.00
R1854:Afap1l1	UTSW	18	61,876,365 (GRCm39)	missense	probably benign
R1992:Afap1l1	UTSW	18	61,874,842 (GRCm39)	nonsense	probably null
R2063:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R2064:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R2065:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R2066:Afap1l1	UTSW	18	61,872,193 (GRCm39)	critical splice donor site	probably null
R4120:Afap1l1	UTSW	18	61,872,243 (GRCm39)	missense	probably damaging	1.00
R4904:Afap1l1	UTSW	18	61,871,786 (GRCm39)	missense	probably benign	0.00
R4997:Afap1l1	UTSW	18	61,884,879 (GRCm39)	missense	probably benign
R5379:Afap1l1	UTSW	18	61,891,721 (GRCm39)	missense	probably damaging	1.00
R5947:Afap1l1	UTSW	18	61,876,771 (GRCm39)	missense	probably damaging	0.98
R6774:Afap1l1	UTSW	18	61,888,732 (GRCm39)	missense	probably benign	0.00
R6814:Afap1l1	UTSW	18	61,866,812 (GRCm39)	missense	probably benign	0.45
R7085:Afap1l1	UTSW	18	61,881,885 (GRCm39)	missense	possibly damaging	0.91
R7325:Afap1l1	UTSW	18	61,869,917 (GRCm39)	missense	probably benign	0.44
R7543:Afap1l1	UTSW	18	61,889,972 (GRCm39)	missense	probably benign	0.01
R8041:Afap1l1	UTSW	18	61,891,754 (GRCm39)	missense	probably damaging	1.00
R8253:Afap1l1	UTSW	18	61,874,702 (GRCm39)	missense	probably benign	0.43
R8913:Afap1l1	UTSW	18	61,889,910 (GRCm39)	critical splice donor site	probably null
R9443:Afap1l1	UTSW	18	61,879,859 (GRCm39)	missense	probably damaging	1.00
R9521:Afap1l1	UTSW	18	61,879,863 (GRCm39)	missense	probably benign
R9633:Afap1l1	UTSW	18	61,890,795 (GRCm39)	missense	possibly damaging	0.62
R9652:Afap1l1	UTSW	18	61,876,432 (GRCm39)	missense	probably damaging	1.00
R9792:Afap1l1	UTSW	18	61,874,822 (GRCm39)	missense	possibly damaging	0.94
R9793:Afap1l1	UTSW	18	61,874,822 (GRCm39)	missense	possibly damaging	0.94
R9795:Afap1l1	UTSW	18	61,874,822 (GRCm39)	missense	possibly damaging	0.94
Z1177:Afap1l1	UTSW	18	61,885,579 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGACTAGCAAGCACCTGC -3'
(R):5'- GTTATGCGGACGCCTAGTTCAG -3'

Sequencing Primer
(F):5'- TGCCACACTGCTGCTAAG -3'
(R):5'- GACGCCTAGTTCAGCCCTAC -3'

Posted On

2019-12-20