Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Aftph'

565880

Institutional Source

Beutler Lab

Gene Symbol

Aftph

Ensembl Gene

ENSMUSG00000049659

Gene Name

aftiphilin

Synonyms

9130023F12Rik

MMRRC Submission

045392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20635084-20691589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20676812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 266 (K266E)

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: K266E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: K266E

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: K266E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: K266E

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 benign
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

probably benign
Transcript: ENSMUST00000177014
AA Change: K111E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: K111E

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: K266E

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

SMART Domains

Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: K266E

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: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,246,605 (GRCm39)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,097,404 (GRCm39)	R30H	probably damaging	Het
AB124611	C	A	9: 21,450,400 (GRCm39)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,628,643 (GRCm39)	L367Q	probably damaging	Het
Akap9	T	A	5: 4,006,246 (GRCm39)	D190E	probably damaging	Het
Angel1	G	T	12: 86,767,298 (GRCm39)	D359E	probably damaging	Het
Ano6	T	C	15: 95,846,184 (GRCm39)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,398,008 (GRCm39)		probably null	Het
Best1	T	C	19: 9,963,737 (GRCm39)		probably null	Het
Bhlha9	A	G	11: 76,563,492 (GRCm39)	S40G	probably benign	Het
Cabin1	G	A	10: 75,530,668 (GRCm39)	R178C		Het
Ccnb1ip1	A	G	14: 51,029,736 (GRCm39)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,381,715 (GRCm39)	S1763P	probably damaging	Het
Dars1	T	C	1: 128,300,004 (GRCm39)	T327A	probably benign	Het
Dhx8	T	C	11: 101,645,648 (GRCm39)	Y889H	probably damaging	Het
Dlg4	T	A	11: 69,932,908 (GRCm39)	Y523*	probably null	Het
Dnah10	A	T	5: 124,909,662 (GRCm39)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,881,302 (GRCm39)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,180,672 (GRCm39)	E1715G	probably benign	Het
Dym	A	G	18: 75,252,242 (GRCm39)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,521,453 (GRCm39)	M439T	probably benign	Het
Folr1	T	G	7: 101,508,677 (GRCm39)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,889,904 (GRCm39)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,779,542 (GRCm39)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm39)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,883,402 (GRCm39)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,789,173 (GRCm39)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,324,479 (GRCm39)	D799G	probably damaging	Het
Ikbkb	T	C	8: 23,158,976 (GRCm39)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm39)	R355*	probably null	Het
Kcna7	T	A	7: 45,058,652 (GRCm39)	I313N	probably damaging	Het
Kirrel1	A	C	3: 86,990,694 (GRCm39)	D709E	probably benign	Het
Klb	T	A	5: 65,540,821 (GRCm39)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,700,238 (GRCm39)	C140*	probably null	Het
Lacc1	A	T	14: 77,268,309 (GRCm39)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,059,775 (GRCm39)	R97*	probably null	Het
Mgat5b	T	C	11: 116,835,746 (GRCm39)	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myh9	G	A	15: 77,671,796 (GRCm39)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,144,902 (GRCm39)	T236A	probably benign	Het
Neb	T	C	2: 52,148,804 (GRCm39)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,663,675 (GRCm39)	M778K	probably benign	Het
Npas2	A	G	1: 39,363,548 (GRCm39)	D209G	probably benign	Het
Nploc4	C	T	11: 120,307,196 (GRCm39)	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,610,817 (GRCm39)	I506F	probably damaging	Het
Or52w1	T	A	7: 105,017,752 (GRCm39)	M73K	probably damaging	Het
Or5h27	A	G	16: 59,006,331 (GRCm39)	*172Q	probably null	Het
Or6c3b	T	C	10: 129,527,220 (GRCm39)	N230S	probably benign	Het
Pask	T	A	1: 93,248,391 (GRCm39)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 108,840,308 (GRCm39)	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,114,617 (GRCm39)	L38Q	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 22,166,775 (GRCm39)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,801,400 (GRCm39)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 35,035,317 (GRCm39)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,113,123 (GRCm39)	N179S	probably null	Het
Prune2	T	C	19: 17,097,250 (GRCm39)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,097 (GRCm39)	T729I	probably damaging	Het
Relch	T	A	1: 105,662,308 (GRCm39)	H942Q	probably benign	Het
Rrp7a	T	C	15: 83,006,071 (GRCm39)	T60A	probably damaging	Het
Snx27	A	G	3: 94,431,498 (GRCm39)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,754,847 (GRCm39)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,188,081 (GRCm39)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,607,270 (GRCm39)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,179,561 (GRCm39)		probably null	Het
Thbs1	A	G	2: 117,949,837 (GRCm39)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,055,454 (GRCm39)	F1482L	probably benign	Het
Trhr2	A	T	8: 123,087,114 (GRCm39)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,678,562 (GRCm39)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Xirp2	T	A	2: 67,347,173 (GRCm39)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,307,646 (GRCm39)	T125I	probably benign	Het
Zfp239	T	A	6: 117,848,716 (GRCm39)	C151*	probably null	Het
Zfp473	C	T	7: 44,382,627 (GRCm39)	E569K	not run	Het
Zzef1	T	A	11: 72,777,516 (GRCm39)	D1782E	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
R7371:Aftph	UTSW	11	20,676,836 (GRCm39)	missense	probably benign
R7974:Aftph	UTSW	11	20,648,233 (GRCm39)	makesense	probably null
R8290:Aftph	UTSW	11	20,675,712 (GRCm39)	missense	probably benign	0.01
X0028:Aftph	UTSW	11	20,676,338 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTCTACCAAGCTCCAAGC -3'
(R):5'- AGGGATCGAAGCCTCTTAACAC -3'

Sequencing Primer
(F):5'- AGAAACTCATCCTGTTGCAGTG -3'
(R):5'- TTAACACTTGTGGCACCGAG -3'

Posted On

2019-06-26