Mutagenetix > Incidental Mutation

Incidental Mutation 'R1480:Agbl4'

164268

Institutional Source

Beutler Lab

Gene Symbol

Agbl4

Ensembl Gene

ENSMUSG00000061298

Gene Name

ATP/GTP binding protein-like 4

Synonyms

4931433A01Rik, Ccp6, 4930578N11Rik

MMRRC Submission

039533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1480 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110254858-111521521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111423914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 313 (M313I)

Ref Sequence

ENSEMBL: ENSMUSP00000102202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106591] [ENSMUST00000106592]

AlphaFold

Q09LZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000080744
AA Change: M313I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298
AA Change: M313I

Domain	Start	End	E-Value	Type
Zn_pept	169	436	4.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097920
AA Change: M313I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298
AA Change: M313I

Domain	Start	End	E-Value	Type
Zn_pept	169	465	3.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106591
AA Change: M313I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298
AA Change: M313I

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M14	174	321	3.7e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106592
AA Change: M313I

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298
AA Change: M313I

Domain	Start	End	E-Value	Type
Zn_pept	169	436	4.95e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142460

Predicted Effect

unknown
Transcript: ENSMUST00000148038
AA Change: M158I

SMART Domains

Protein: ENSMUSP00000118551
Gene: ENSMUSG00000061298
AA Change: M158I

Domain	Start	End	E-Value	Type
Zn_pept	15	267	9.65e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154123

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,323,409 (GRCm39)	R126C	possibly damaging	Het
Abcb9	C	A	5: 124,216,889 (GRCm39)	A443S	probably benign	Het
Adcy3	A	G	12: 4,262,171 (GRCm39)	M1074V	probably damaging	Het
Adnp	A	G	2: 168,025,454 (GRCm39)	Y614H	probably damaging	Het
AI987944	T	C	7: 41,024,343 (GRCm39)	D212G	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aplp1	A	G	7: 30,135,448 (GRCm39)	S537P	probably benign	Het
Arap2	T	A	5: 62,826,472 (GRCm39)	R1031*	probably null	Het
Arid1a	A	G	4: 133,407,700 (GRCm39)	M2269T	unknown	Het
Ash1l	C	A	3: 88,892,359 (GRCm39)	P1413T	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt5	A	T	16: 19,588,617 (GRCm39)	I279L	probably damaging	Het
Camkk2	T	C	5: 122,872,341 (GRCm39)		probably null	Het
Ccdc158	T	C	5: 92,796,903 (GRCm39)	K478E	probably damaging	Het
Ces1f	T	C	8: 94,000,782 (GRCm39)	I121V	probably benign	Het
Chad	A	T	11: 94,455,963 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,545,752 (GRCm39)	I907V	unknown	Het
Cpe	T	A	8: 65,047,969 (GRCm39)	T432S	probably benign	Het
Csmd3	T	C	15: 47,595,325 (GRCm39)	T1941A	possibly damaging	Het
Dennd3	G	A	15: 73,404,695 (GRCm39)	V257I	probably benign	Het
Dnajc21	T	C	15: 10,460,037 (GRCm39)		probably null	Het
Dqx1	A	G	6: 83,036,433 (GRCm39)	R146G	possibly damaging	Het
Etf1	T	C	18: 35,042,276 (GRCm39)	E261G	probably damaging	Het
Fermt2	C	T	14: 45,699,244 (GRCm39)	V617I	possibly damaging	Het
Gabarap	T	C	11: 69,882,551 (GRCm39)	Y5H	probably damaging	Het
Gdap1	A	G	1: 17,215,781 (GRCm39)	Y29C	probably damaging	Het
Gimap5	A	G	6: 48,729,964 (GRCm39)	E178G	probably damaging	Het
Gpatch1	C	T	7: 35,002,763 (GRCm39)	G249E	probably damaging	Het
Gse1	T	G	8: 121,299,133 (GRCm39)		probably benign	Het
Kifc3	T	C	8: 95,836,515 (GRCm39)	D82G	probably damaging	Het
Kit	G	A	5: 75,797,977 (GRCm39)	D422N	probably benign	Het
Klhl28	A	T	12: 65,003,995 (GRCm39)	F173I	probably damaging	Het
Klk1b22	A	G	7: 43,766,278 (GRCm39)	D253G	possibly damaging	Het
Lias	T	A	5: 65,549,634 (GRCm39)	H39Q	probably benign	Het
Lrp1b	T	A	2: 40,793,401 (GRCm39)	D2504V	probably damaging	Het
Mgat5	A	T	1: 127,387,716 (GRCm39)	R557S	probably damaging	Het
Mrpl54	T	C	10: 81,101,489 (GRCm39)	T91A	probably benign	Het
Myh3	T	A	11: 66,984,371 (GRCm39)	D1069E	possibly damaging	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nfyc	A	C	4: 120,625,921 (GRCm39)		probably null	Het
Nol7	A	T	13: 43,552,104 (GRCm39)	E75V	probably damaging	Het
Nomo1	T	A	7: 45,710,337 (GRCm39)	V606E	probably damaging	Het
Npat	TGGTAAAA	T	9: 53,474,366 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Ogdh	A	T	11: 6,297,827 (GRCm39)		probably null	Het
Or1o4	A	G	17: 37,590,636 (GRCm39)	V225A	probably benign	Het
Parg	A	T	14: 31,931,585 (GRCm39)	K402*	probably null	Het
Patj	G	A	4: 98,357,819 (GRCm39)	G695E	probably damaging	Het
Pde3a	G	A	6: 141,433,300 (GRCm39)	S777N	probably benign	Het
Phactr2	G	A	10: 13,129,536 (GRCm39)	P174L	possibly damaging	Het
Phtf1	C	T	3: 103,894,750 (GRCm39)	R113*	probably null	Het
Pik3r4	G	T	9: 105,564,443 (GRCm39)	V1346L	probably benign	Het
Prkcb	T	C	7: 122,193,865 (GRCm39)	W525R	probably damaging	Het
Prl8a1	C	T	13: 27,758,055 (GRCm39)	R218H	possibly damaging	Het
Pum3	T	C	19: 27,376,310 (GRCm39)	E536G	probably benign	Het
Rb1	T	C	14: 73,500,042 (GRCm39)	N535S	probably benign	Het
Rbm7	G	T	9: 48,401,016 (GRCm39)	D237E	probably benign	Het
Ripor1	T	C	8: 106,342,180 (GRCm39)	V122A	probably damaging	Het
Sdhc	C	T	1: 170,973,370 (GRCm39)	R11H	probably benign	Het
Sema3c	A	G	5: 17,887,029 (GRCm39)	N360S	possibly damaging	Het
Serpinb5	T	A	1: 106,809,437 (GRCm39)	M281K	probably benign	Het
Serpinc1	A	G	1: 160,822,889 (GRCm39)	E210G	probably benign	Het
Shoc2	T	C	19: 53,976,202 (GRCm39)	S31P	probably benign	Het
Sult2a3	T	A	7: 13,856,836 (GRCm39)	N28I	possibly damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Tacc3	G	A	5: 33,821,941 (GRCm39)	V234I	probably benign	Het
Tacr1	A	T	6: 82,469,511 (GRCm39)	M132L	possibly damaging	Het
Tas2r104	C	A	6: 131,662,257 (GRCm39)	V151F	probably benign	Het
Tbc1d10b	C	T	7: 126,802,950 (GRCm39)	S326N	probably benign	Het
Trim12c	C	T	7: 103,997,451 (GRCm39)	C35Y	probably damaging	Het
Trrap	T	C	5: 144,755,123 (GRCm39)	I2067T	probably benign	Het
Upk1a	T	C	7: 30,306,311 (GRCm39)	I152V	probably benign	Het
Vmn2r39	T	G	7: 9,017,955 (GRCm39)	T794P	probably damaging	Het
Wnk2	G	A	13: 49,210,708 (GRCm39)	P1704S	probably damaging	Het
Zfp609	T	C	9: 65,610,593 (GRCm39)	E790G	possibly damaging	Het
Zmym1	G	T	4: 126,942,405 (GRCm39)	T563K	probably damaging	Het
Zranb1	T	A	7: 132,551,745 (GRCm39)	F132Y	probably benign	Het
Zranb3	C	T	1: 128,019,599 (GRCm39)	A48T	probably damaging	Het

Other mutations in Agbl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00548:Agbl4	APN	4	110,976,081 (GRCm39)	missense	probably damaging	1.00
IGL02961:Agbl4	APN	4	110,437,318 (GRCm39)	missense	probably damaging	1.00
IGL03383:Agbl4	APN	4	111,514,620 (GRCm39)	intron	probably benign
IGL03401:Agbl4	APN	4	110,976,216 (GRCm39)	missense	probably damaging	0.99
I1329:Agbl4	UTSW	4	110,335,652 (GRCm39)	splice site	probably benign
R0277:Agbl4	UTSW	4	111,474,419 (GRCm39)	missense	probably damaging	1.00
R0323:Agbl4	UTSW	4	111,474,419 (GRCm39)	missense	probably damaging	1.00
R0690:Agbl4	UTSW	4	111,514,585 (GRCm39)	missense	probably benign	0.35
R1086:Agbl4	UTSW	4	110,335,791 (GRCm39)	splice site	probably benign
R1099:Agbl4	UTSW	4	110,812,860 (GRCm39)	critical splice donor site	probably null
R1172:Agbl4	UTSW	4	111,513,515 (GRCm39)	splice site	probably benign
R1508:Agbl4	UTSW	4	111,513,595 (GRCm39)	missense	probably benign	0.10
R1564:Agbl4	UTSW	4	110,812,761 (GRCm39)	splice site	probably null
R1610:Agbl4	UTSW	4	111,514,365 (GRCm39)	missense	probably benign	0.00
R1869:Agbl4	UTSW	4	111,423,826 (GRCm39)	missense	possibly damaging	0.91
R1989:Agbl4	UTSW	4	111,423,879 (GRCm39)	missense	possibly damaging	0.92
R2327:Agbl4	UTSW	4	111,383,798 (GRCm39)	missense	probably benign	0.00
R4780:Agbl4	UTSW	4	111,514,528 (GRCm39)	missense	possibly damaging	0.73
R4806:Agbl4	UTSW	4	110,812,834 (GRCm39)	missense	probably damaging	1.00
R4814:Agbl4	UTSW	4	111,513,565 (GRCm39)	missense	possibly damaging	0.60
R5077:Agbl4	UTSW	4	111,423,939 (GRCm39)	missense	probably benign	0.00
R5079:Agbl4	UTSW	4	111,423,826 (GRCm39)	missense	possibly damaging	0.91
R5091:Agbl4	UTSW	4	110,976,237 (GRCm39)	missense	possibly damaging	0.79
R5124:Agbl4	UTSW	4	111,513,525 (GRCm39)	missense	probably benign	0.21
R5297:Agbl4	UTSW	4	111,423,895 (GRCm39)	missense	possibly damaging	0.92
R5645:Agbl4	UTSW	4	111,514,527 (GRCm39)	missense	possibly damaging	0.53
R5996:Agbl4	UTSW	4	110,812,869 (GRCm39)	splice site	probably null
R6363:Agbl4	UTSW	4	111,423,982 (GRCm39)	intron	probably benign
R6492:Agbl4	UTSW	4	111,404,469 (GRCm39)	missense	probably damaging	1.00
R6617:Agbl4	UTSW	4	110,437,332 (GRCm39)	missense	probably damaging	1.00
R6709:Agbl4	UTSW	4	111,423,979 (GRCm39)	intron	probably benign
R6873:Agbl4	UTSW	4	111,423,856 (GRCm39)	missense	possibly damaging	0.76
R7015:Agbl4	UTSW	4	110,335,697 (GRCm39)	missense	probably damaging	1.00
R7105:Agbl4	UTSW	4	111,423,920 (GRCm39)	missense	probably benign	0.06
R7143:Agbl4	UTSW	4	111,474,333 (GRCm39)	missense	probably damaging	1.00
R7413:Agbl4	UTSW	4	111,514,495 (GRCm39)	missense	probably benign	0.23
R7489:Agbl4	UTSW	4	111,383,855 (GRCm39)	missense	probably damaging	1.00
R7583:Agbl4	UTSW	4	110,976,150 (GRCm39)	missense	possibly damaging	0.89
R7796:Agbl4	UTSW	4	110,518,165 (GRCm39)	missense	unknown
R8023:Agbl4	UTSW	4	111,474,345 (GRCm39)	missense	probably benign	0.05
R8058:Agbl4	UTSW	4	110,518,039 (GRCm39)	missense	unknown
R8342:Agbl4	UTSW	4	110,976,224 (GRCm39)	missense	probably damaging	1.00
R8366:Agbl4	UTSW	4	111,423,861 (GRCm39)	missense	probably damaging	1.00
R8691:Agbl4	UTSW	4	111,520,156 (GRCm39)	missense	probably benign	0.03
Z1176:Agbl4	UTSW	4	111,383,840 (GRCm39)	missense	probably damaging	1.00
Z1176:Agbl4	UTSW	4	110,518,036 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCCATAAGGATCAAAGTGGGAC -3'
(R):5'- TGCCCAAGCCAACATTTGAGTAGTG -3'

Sequencing Primer
(F):5'- tgggagacaataagtgataggtaag -3'
(R):5'- ATTGGGAGAAGGTACTGGGTC -3'

Posted On

2014-03-28