Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Afap1l1'

713784

Institutional Source

Beutler Lab

Gene Symbol

Afap1l1

Ensembl Gene

ENSMUSG00000033032

Gene Name

actin filament associated protein 1-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9443 (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 C at 61879859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 337 (D337G)

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: D337G

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

SMART Domains

Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: D337G

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: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,146,140 (GRCm39)	Y503H	probably benign	Het
Adck1	T	C	12: 88,338,550 (GRCm39)		probably null	Het
Afg1l	G	A	10: 42,189,587 (GRCm39)	T448M	probably damaging	Het
Aqp6	T	C	15: 99,499,409 (GRCm39)	S41P		Het
Atad5	T	G	11: 80,023,388 (GRCm39)	V1500G	probably benign	Het
B3galt9	C	T	2: 34,728,623 (GRCm39)	Q141*	probably null	Het
Btbd18	T	A	2: 84,497,524 (GRCm39)	D387E	probably benign	Het
Catsperd	A	G	17: 56,969,720 (GRCm39)	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,728,355 (GRCm39)	V102I	probably benign	Het
Cenpe	T	A	3: 134,976,609 (GRCm39)	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,195,023 (GRCm39)	D2249G		Het
Chrm1	A	T	19: 8,655,550 (GRCm39)	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,428,358 (GRCm39)	G465S	probably damaging	Het
Col7a1	G	A	9: 108,785,059 (GRCm39)	G262D	unknown	Het
Copg2	T	C	6: 30,750,578 (GRCm39)	T736A	probably benign	Het
Coro2b	T	C	9: 62,333,080 (GRCm39)	E435G	probably benign	Het
Cp	A	T	3: 20,033,083 (GRCm39)	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,853,411 (GRCm39)	F239L	probably damaging	Het
Cstdc2	C	T	2: 148,689,878 (GRCm39)	E92K	probably damaging	Het
Cul2	T	A	18: 3,434,041 (GRCm39)	Y679*	probably null	Het
Dhx8	T	C	11: 101,655,740 (GRCm39)	Y1158H	probably damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Elp6	T	A	9: 110,150,004 (GRCm39)	V265D	probably damaging	Het
Eomes	A	G	9: 118,313,640 (GRCm39)	T562A		Het
Fam187b	A	T	7: 30,677,067 (GRCm39)	E192V	probably damaging	Het
Foxi1	T	C	11: 34,155,671 (GRCm39)	T320A	probably benign	Het
Gga1	C	T	15: 78,765,247 (GRCm39)	T18I	possibly damaging	Het
Grik4	T	A	9: 42,571,037 (GRCm39)	M223L	probably benign	Het
Hdac7	T	C	15: 97,700,352 (GRCm39)	N594S	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Itpr3	T	G	17: 27,324,523 (GRCm39)	F1235C	probably damaging	Het
Klhdc4	A	G	8: 122,523,765 (GRCm39)	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,515,045 (GRCm39)	S2933P	probably damaging	Het
Lama5	T	A	2: 179,843,522 (GRCm39)	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,299,826 (GRCm39)	L292P	possibly damaging	Het
Macf1	T	A	4: 123,365,668 (GRCm39)	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,146,712 (GRCm39)	S307R	probably damaging	Het
Mertk	T	C	2: 128,604,029 (GRCm39)	F388L	probably benign	Het
Mmp11	A	G	10: 75,762,733 (GRCm39)	F240S	probably damaging	Het
Mroh1	T	A	15: 76,318,964 (GRCm39)	F949I	probably damaging	Het
Mroh2b	T	C	15: 4,973,821 (GRCm39)	L1113P	probably damaging	Het
Ndufv1	C	A	19: 4,057,614 (GRCm39)	A454S	probably benign	Het
Or13e8	A	G	4: 43,696,591 (GRCm39)	L194P	probably damaging	Het
Or56b2j	T	C	7: 104,352,821 (GRCm39)	S16P	probably benign	Het
Or5d46	T	A	2: 88,170,364 (GRCm39)	W152R	probably damaging	Het
Osbpl1a	C	A	18: 13,031,244 (GRCm39)	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,330,633 (GRCm39)	R929L	probably damaging	Het
Phactr2	C	T	10: 13,122,841 (GRCm39)	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,153,184 (GRCm39)	Y670H	probably damaging	Het
Plbd1	T	A	6: 136,611,555 (GRCm39)	N241Y	probably damaging	Het
Pmvk	C	A	3: 89,374,956 (GRCm39)	Q139K	probably benign	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Rab3gap2	T	A	1: 184,967,523 (GRCm39)	C136S	probably damaging	Het
Rcor3	A	G	1: 191,786,050 (GRCm39)	V396A	probably damaging	Het
Rgs20	C	A	1: 4,982,629 (GRCm39)	E147*	probably null	Het
Rnf167	G	T	11: 70,540,777 (GRCm39)	L170F	probably damaging	Het
Scn9a	T	C	2: 66,395,553 (GRCm39)	T164A	probably damaging	Het
Skic3	A	G	13: 76,266,288 (GRCm39)	Q210R	probably benign	Het
Slc52a3	A	T	2: 151,846,299 (GRCm39)	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364 (GRCm38)	M146L		Het
Svep1	C	T	4: 58,179,697 (GRCm39)	R182H	possibly damaging	Het
Taar7f	A	G	10: 23,926,311 (GRCm39)	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,746,090 (GRCm39)	I17V	probably benign	Het
Traf1	T	C	2: 34,836,748 (GRCm39)	T270A	probably benign	Het
Trpm5	C	T	7: 142,638,860 (GRCm39)	E304K	probably benign	Het
Ttll8	T	C	15: 88,809,863 (GRCm39)	D311G	possibly damaging	Het
Unc79	T	A	12: 103,037,035 (GRCm39)	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,195,159 (GRCm39)	C722*	probably null	Het
Wdr7	A	G	18: 63,853,407 (GRCm39)	T36A	probably damaging	Het
Ybx2	C	T	11: 69,831,188 (GRCm39)	P261L		Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp260	T	C	7: 29,804,249 (GRCm39)	S50P	probably benign	Het
Zfp319	A	T	8: 96,054,922 (GRCm39)	F427Y	probably benign	Het
Zfp369	T	C	13: 65,444,347 (GRCm39)	S497P	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
R7877:Afap1l1	UTSW	18	61,879,853 (GRCm39)	missense	probably damaging	1.00
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
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'- TTGACTAGCAAGCACCTGCC -3'
(R):5'- AGTTATGCGGACGCCTAGTTC -3'

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

Posted On

2022-06-15