Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Aftph'

543571

Institutional Source

Beutler Lab

Gene Symbol

Aftph

Ensembl Gene

ENSMUSG00000049659

Gene Name

aftiphilin

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20685084-20741589 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 20726144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035350] [ENSMUST00000146722] [ENSMUST00000177014] [ENSMUST00000177543]

AlphaFold

Q80WT5

Predicted Effect

silent
Transcript: ENSMUST00000035350

SMART Domains

Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
low complexity region	546	560	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
Pfam:Clathrin_bdg	693	765	1.1e-36	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000146722

SMART Domains

Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
low complexity region	546	560	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
Pfam:Clathrin_bdg	694	765	1.2e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000176782

SMART Domains

Protein: ENSMUSP00000134791
Gene: ENSMUSG00000049659

Domain	Start	End	E-Value	Type
low complexity region	68	82	N/A	INTRINSIC
low complexity region	140	153	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000177014

SMART Domains

Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659

Domain	Start	End	E-Value	Type
low complexity region	391	405	N/A	INTRINSIC
low complexity region	463	476	N/A	INTRINSIC
Pfam:Clathrin_bdg	538	610	6.8e-37	PFAM
low complexity region	664	677	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000177543

SMART Domains

Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
low complexity region	546	560	N/A	INTRINSIC
low complexity region	618	631	N/A	INTRINSIC
Pfam:Clathrin_bdg	693	765	8.7e-37	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313		probably null	Het
Acyp1	C	T	12: 85,278,905	V107I	probably null	Het
Agtpbp1	A	T	13: 59,544,353		probably null	Het
Arhgap15	C	A	2: 44,116,677	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634		probably null	Het
Birc3	A	G	9: 7,860,261		probably null	Het
Cav2	A	T	6: 17,286,951	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Cox4i1	T	C	8: 120,673,230	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595	I8F	unknown	Het
Ebf1	G	T	11: 44,883,814	V213F	probably damaging	Het
Foxb2	C	A	19: 16,872,833	E270*	probably null	Het
Gclc	A	T	9: 77,788,245	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437	Q61L	probably benign	Het
Met	A	C	6: 17,571,467	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648		probably null	Het
Peg10	A	G	6: 4,757,137		probably benign	Het
Pms2	C	T	5: 143,925,419	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046		probably benign	Het
Prob1	G	A	18: 35,655,154	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Homo
Sec23ip	A	G	7: 128,752,849		silent	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180		probably null	Het
Slc6a18	C	A	13: 73,677,991		probably benign	Het
Snw1	T	C	12: 87,464,710	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395		probably null	Het
Spire2	C	T	8: 123,356,846	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650		probably null	Het
Vmn2r114	A	T	17: 23,309,876	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302		probably null	Het
Zcchc24	T	C	14: 25,757,033	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894	K2050R	probably damaging	Het

Other mutations in Aftph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Aftph	APN	11	20727483	missense	probably damaging	1.00
IGL01485:Aftph	APN	11	20692507	missense	probably damaging	1.00
IGL01622:Aftph	APN	11	20709632	missense	probably damaging	1.00
IGL01623:Aftph	APN	11	20709632	missense	probably damaging	1.00
IGL01739:Aftph	APN	11	20726994	missense	probably damaging	0.98
IGL01777:Aftph	APN	11	20726554	missense	possibly damaging	0.49
IGL01825:Aftph	APN	11	20726569	missense	possibly damaging	0.77
IGL02804:Aftph	APN	11	20726107	missense	possibly damaging	0.89
IGL03003:Aftph	APN	11	20726982	nonsense	probably null
IGL03111:Aftph	APN	11	20726040	missense	probably benign	0.44
R1103:Aftph	UTSW	11	20726547	missense	probably benign	0.00
R1672:Aftph	UTSW	11	20726762	missense	probably benign	0.10
R2060:Aftph	UTSW	11	20692571	missense	probably damaging	1.00
R2141:Aftph	UTSW	11	20698318	nonsense	probably null
R2241:Aftph	UTSW	11	20726328	missense	possibly damaging	0.90
R2513:Aftph	UTSW	11	20708676	splice site	probably null
R2518:Aftph	UTSW	11	20725797	missense	probably damaging	0.98
R4751:Aftph	UTSW	11	20727074	missense	probably damaging	1.00
R4844:Aftph	UTSW	11	20708667	splice site	probably benign
R4879:Aftph	UTSW	11	20698311	critical splice donor site	probably null
R4895:Aftph	UTSW	11	20696801	missense	probably damaging	1.00
R5012:Aftph	UTSW	11	20698264	intron	probably benign
R5082:Aftph	UTSW	11	20727100	missense	probably damaging	0.98
R5093:Aftph	UTSW	11	20709619	critical splice donor site	probably null
R5160:Aftph	UTSW	11	20712197	missense	probably benign	0.03
R5288:Aftph	UTSW	11	20726994	missense	probably damaging	0.98
R5338:Aftph	UTSW	11	20727203	missense	probably benign	0.18
R5794:Aftph	UTSW	11	20726955	splice site	probably null
R6876:Aftph	UTSW	11	20709744	missense	probably damaging	1.00
R7034:Aftph	UTSW	11	20692498	missense	probably damaging	1.00
R7284:Aftph	UTSW	11	20726812	missense	probably benign	0.00
R7371:Aftph	UTSW	11	20726836	missense	probably benign
R7974:Aftph	UTSW	11	20698233	makesense	probably null
R8290:Aftph	UTSW	11	20725712	missense	probably benign	0.01
X0028:Aftph	UTSW	11	20726338	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGCTGAACTGAAGTCTGC -3'
(R):5'- ACCAATGAGGATGATTTTGGTGAC -3'

Sequencing Primer
(F):5'- CGAGTCTTGAAAAGCACTACCTTGAG -3'
(R):5'- TGGTGACTTTGGTACAGCC -3'

Posted On

2019-03-08