Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Aftph'

546552

Institutional Source

Beutler Lab

Gene Symbol

Aftph

Ensembl Gene

ENSMUSG00000049659

Gene Name

aftiphilin

Synonyms

9130023F12Rik

MMRRC Submission

045135-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R7034 (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 20642498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 845 (M845K)

Ref Sequence

ENSEMBL: ENSMUSP00000036778 (fasta)

Gene Model

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

AlphaFold

Q80WT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035350
AA Change: M845K

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

SMART Domains

Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: M845K

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 damaging
Transcript: ENSMUST00000146722
AA Change: M872K

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

SMART Domains

Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: M872K

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: M254K

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

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

probably benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,634 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,299,236 (GRCm39)	K979E	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Ccna1	T	C	3: 54,953,460 (GRCm39)	E381G	possibly damaging	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,288,065 (GRCm39)	V98F	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	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
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
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'- TTCCCAGTGGCACCAGAATC -3'
(R):5'- TGCAGACTCACATGTGGATAG -3'

Sequencing Primer
(F):5'- CAGTGGCACCAGAATCATCTTCTATG -3'
(R):5'- CAGACTCACATGTGGATAGAGTGTTG -3'

Posted On

2019-05-13