Mutagenetix > Incidental Mutation

Incidental Mutation 'R8290:Aftph'

638649

Institutional Source

Beutler Lab

Gene Symbol

Aftph

Ensembl Gene

ENSMUSG00000049659

Gene Name

aftiphilin

Synonyms

9130023F12Rik

MMRRC Submission

067712-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R8290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20635084-20691589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20675712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 632 (H632Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036778 (fasta)

Gene Model

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

AlphaFold

Q80WT5

Predicted Effect

probably benign
Transcript: ENSMUST00000035350
AA Change: H632Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: H632Q

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

probably benign
Transcript: ENSMUST00000146722
AA Change: H632Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: H632Q

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

SMART Domains

Protein: ENSMUSP00000134791
Gene: ENSMUSG00000049659
AA Change: H153Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177014
AA Change: H477Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: H477Q

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

probably benign
Transcript: ENSMUST00000177543
AA Change: H632Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: H632Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,238,911 (GRCm39)	Y1100N	probably damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,630,002 (GRCm39)	T3576A	probably benign	Het
Adnp2	A	T	18: 80,185,948 (GRCm39)	N8K	probably damaging	Het
Arhgef11	A	T	3: 87,633,275 (GRCm39)	I710F	probably damaging	Het
Atp6v1c2	T	C	12: 17,338,153 (GRCm39)	N341S	possibly damaging	Het
Ccsap	T	G	8: 124,585,986 (GRCm39)	D55A	probably benign	Het
Cdh17	A	G	4: 11,817,037 (GRCm39)	N816S	probably benign	Het
Celf3	A	G	3: 94,386,489 (GRCm39)	I26V	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chek2	A	G	5: 111,008,766 (GRCm39)	E299G	possibly damaging	Het
Clca3a2	A	G	3: 144,793,719 (GRCm39)	V312A	possibly damaging	Het
Cnn1	A	G	9: 22,012,447 (GRCm39)	K25R	probably benign	Het
Cry1	A	T	10: 84,978,977 (GRCm39)	Y516*	probably null	Het
Dcaf4	T	C	12: 83,588,333 (GRCm39)	S498P	probably benign	Het
Dmgdh	T	C	13: 93,843,244 (GRCm39)	V360A	probably benign	Het
Dnajc18	G	A	18: 35,816,324 (GRCm39)	R205*	probably null	Het
Eif4a2	G	T	16: 22,927,372 (GRCm39)	G22C	probably damaging	Het
Elmo2	A	G	2: 165,150,923 (GRCm39)	I196T	probably damaging	Het
Epha3	A	G	16: 63,472,859 (GRCm39)	I342T	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etf1	G	A	18: 35,064,891 (GRCm39)	P35L	unknown	Het
Etnk2	A	C	1: 133,307,127 (GRCm39)	*386C	probably null	Het
Fgg	A	T	3: 82,920,141 (GRCm39)	I307F	probably benign	Het
Flg2	A	G	3: 93,110,069 (GRCm39)	Q699R	unknown	Het
Foxp4	T	A	17: 48,191,778 (GRCm39)	T120S	unknown	Het
Fzd1	A	G	5: 4,807,060 (GRCm39)	V174A	possibly damaging	Het
Gad1	A	C	2: 70,404,610 (GRCm39)	I167L	probably benign	Het
Gfm2	T	A	13: 97,282,171 (GRCm39)	D55E	probably benign	Het
Grb14	G	T	2: 64,805,929 (GRCm39)	A12E	probably benign	Het
Hnmt	A	C	2: 23,893,896 (GRCm39)	Y199*	probably null	Het
Kit	A	G	5: 75,801,829 (GRCm39)	I615V	probably benign	Het
Kpna6	A	G	4: 129,555,097 (GRCm39)		probably null	Het
Lpxn	C	T	19: 12,810,052 (GRCm39)	R275C	probably damaging	Het
Magi1	C	T	6: 94,260,066 (GRCm39)	G80S	probably damaging	Het
Men1	A	G	19: 6,388,316 (GRCm39)	I312V	probably benign	Het
Msx2	A	G	13: 53,622,528 (GRCm39)	F161L	probably damaging	Het
Mtr	T	C	13: 12,205,139 (GRCm39)	D1107G	probably damaging	Het
Muc4	A	T	16: 32,575,434 (GRCm39)	M1397L	probably benign	Het
Mybpc3	A	G	2: 90,951,473 (GRCm39)	N259S	probably benign	Het
Myo5c	A	G	9: 75,196,178 (GRCm39)	K1242R	probably benign	Het
Myoc	T	C	1: 162,476,601 (GRCm39)	V435A	possibly damaging	Het
Nbea	G	A	3: 55,966,056 (GRCm39)	Q469*	probably null	Het
Ndufa10	A	C	1: 92,390,869 (GRCm39)	M227R	possibly damaging	Het
Obscn	C	T	11: 58,953,536 (GRCm39)	D3831N	probably damaging	Het
Obscn	T	C	11: 59,015,400 (GRCm39)	E1024G	probably damaging	Het
Oma1	T	C	4: 103,176,671 (GRCm39)	L145P	probably damaging	Het
Phf11	T	C	14: 59,485,418 (GRCm39)	Y114C	probably damaging	Het
Phf12	C	A	11: 77,920,465 (GRCm39)	N1000K	probably benign	Het
Plxnb1	G	T	9: 108,938,687 (GRCm39)	A1350S	probably benign	Het
Prkd1	C	T	12: 50,388,799 (GRCm39)	V915I	probably damaging	Het
Prkra	T	A	2: 76,463,982 (GRCm39)	N227Y	probably damaging	Het
Prtg	A	T	9: 72,798,077 (GRCm39)	H681L	probably damaging	Het
Rtn1	T	C	12: 72,355,193 (GRCm39)	K251R	probably benign	Het
Sema6b	A	T	17: 56,431,803 (GRCm39)	V620E	possibly damaging	Het
Senp7	T	A	16: 55,974,000 (GRCm39)	L407*	probably null	Het
Sh3pxd2a	A	T	19: 47,302,575 (GRCm39)	L168Q	probably damaging	Het
Shtn1	A	G	19: 58,988,326 (GRCm39)	L453P	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Stac3	T	C	10: 127,339,229 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,926,416 (GRCm39)	F178S	probably damaging	Het
Tcp10a	G	A	17: 7,601,716 (GRCm39)	E239K	probably benign	Het
Ubox5	A	G	2: 130,442,333 (GRCm39)	V118A	probably damaging	Het
Unc13d	C	A	11: 115,958,973 (GRCm39)	L729F	probably damaging	Het
Vmn1r228	T	C	17: 20,996,724 (GRCm39)	T265A	probably benign	Het
Vmn2r100	G	A	17: 19,751,612 (GRCm39)	V615I	probably damaging	Het
Vmn2r60	T	G	7: 41,791,690 (GRCm39)	C538G	probably damaging	Het
Vmn2r93	A	T	17: 18,524,291 (GRCm39)	N95I	probably damaging	Het
Vsig2	A	G	9: 37,451,264 (GRCm39)	N55S	probably benign	Het
Zfp472	A	G	17: 33,197,088 (GRCm39)	T388A	probably benign	Het
Zfp853	G	A	5: 143,274,826 (GRCm39)	Q214*	probably null	Het
Zfp949	A	G	9: 88,451,293 (GRCm39)	R288G	probably damaging	Het

Other mutations in Aftph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Aftph	APN	11	20,677,483 (GRCm39)	missense	probably damaging	1.00
IGL01485:Aftph	APN	11	20,642,507 (GRCm39)	missense	probably damaging	1.00
IGL01622:Aftph	APN	11	20,659,632 (GRCm39)	missense	probably damaging	1.00
IGL01623:Aftph	APN	11	20,659,632 (GRCm39)	missense	probably damaging	1.00
IGL01739:Aftph	APN	11	20,676,994 (GRCm39)	missense	probably damaging	0.98
IGL01777:Aftph	APN	11	20,676,554 (GRCm39)	missense	possibly damaging	0.49
IGL01825:Aftph	APN	11	20,676,569 (GRCm39)	missense	possibly damaging	0.77
IGL02804:Aftph	APN	11	20,676,107 (GRCm39)	missense	possibly damaging	0.89
IGL03003:Aftph	APN	11	20,676,982 (GRCm39)	nonsense	probably null
IGL03111:Aftph	APN	11	20,676,040 (GRCm39)	missense	probably benign	0.44
R1103:Aftph	UTSW	11	20,676,547 (GRCm39)	missense	probably benign	0.00
R1672:Aftph	UTSW	11	20,676,762 (GRCm39)	missense	probably benign	0.10
R2060:Aftph	UTSW	11	20,642,571 (GRCm39)	missense	probably damaging	1.00
R2141:Aftph	UTSW	11	20,648,318 (GRCm39)	nonsense	probably null
R2241:Aftph	UTSW	11	20,676,328 (GRCm39)	missense	possibly damaging	0.90
R2513:Aftph	UTSW	11	20,658,676 (GRCm39)	splice site	probably null
R2518:Aftph	UTSW	11	20,675,797 (GRCm39)	missense	probably damaging	0.98
R4751:Aftph	UTSW	11	20,677,074 (GRCm39)	missense	probably damaging	1.00
R4844:Aftph	UTSW	11	20,658,667 (GRCm39)	splice site	probably benign
R4879:Aftph	UTSW	11	20,648,311 (GRCm39)	critical splice donor site	probably null
R4895:Aftph	UTSW	11	20,646,801 (GRCm39)	missense	probably damaging	1.00
R5012:Aftph	UTSW	11	20,648,264 (GRCm39)	intron	probably benign
R5082:Aftph	UTSW	11	20,677,100 (GRCm39)	missense	probably damaging	0.98
R5093:Aftph	UTSW	11	20,659,619 (GRCm39)	critical splice donor site	probably null
R5160:Aftph	UTSW	11	20,662,197 (GRCm39)	missense	probably benign	0.03
R5288:Aftph	UTSW	11	20,676,994 (GRCm39)	missense	probably damaging	0.98
R5338:Aftph	UTSW	11	20,677,203 (GRCm39)	missense	probably benign	0.18
R5794:Aftph	UTSW	11	20,676,955 (GRCm39)	splice site	probably null
R6747:Aftph	UTSW	11	20,676,144 (GRCm39)	splice site	probably null
R6876:Aftph	UTSW	11	20,659,744 (GRCm39)	missense	probably damaging	1.00
R7034:Aftph	UTSW	11	20,642,498 (GRCm39)	missense	probably damaging	1.00
R7284:Aftph	UTSW	11	20,676,812 (GRCm39)	missense	probably benign	0.00
R7371:Aftph	UTSW	11	20,676,836 (GRCm39)	missense	probably benign
R7974:Aftph	UTSW	11	20,648,233 (GRCm39)	makesense	probably null
X0028:Aftph	UTSW	11	20,676,338 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCCTGTGTAGCAGTTTTAC -3'
(R):5'- TGGAATGCTTTTGAGGATGAAC -3'

Sequencing Primer
(F):5'- CCTGTGTAGCAGTTTTACAATTTTTC -3'
(R):5'- AACAGAAAGATGGTTGTTCTTGGGC -3'

Posted On

2020-07-28