Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Agbl4'

482127

Institutional Source

Beutler Lab

Gene Symbol

Agbl4

Ensembl Gene

ENSMUSG00000061298

Gene Name

ATP/GTP binding protein-like 4

Synonyms

4931433A01Rik, Ccp6, 4930578N11Rik

MMRRC Submission

044175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5996 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110254858-111521521 bp(+) (GRCm39)

Type of Mutation

splice site (76 bp from exon)

DNA Base Change (assembly)

A to G at 110812869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106589] [ENSMUST00000106591] [ENSMUST00000106592]

AlphaFold

Q09LZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000080744

SMART Domains

Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097920

SMART Domains

Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298

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

Predicted Effect

probably null
Transcript: ENSMUST00000106589

Predicted Effect

probably benign
Transcript: ENSMUST00000106591

SMART Domains

Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106592

SMART Domains

Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,468,928 (GRCm39)	M1T	probably null	Het
A2m	T	A	6: 121,636,353 (GRCm39)	W741R	probably damaging	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acan	A	G	7: 78,761,068 (GRCm39)	T1927A	probably damaging	Het
Bltp1	T	C	3: 36,985,265 (GRCm39)	F865S	probably benign	Het
Ccr8	T	A	9: 119,923,529 (GRCm39)	C215S	probably damaging	Het
Cd209b	T	C	8: 3,968,688 (GRCm39)	T314A	probably benign	Het
Cd244a	T	G	1: 171,409,208 (GRCm39)		probably null	Het
Cdh23	T	C	10: 60,249,356 (GRCm39)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,721,175 (GRCm39)	V268A	probably damaging	Het
Clip4	T	C	17: 72,163,305 (GRCm39)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,367,152 (GRCm39)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,433,449 (GRCm39)	D1498G	unknown	Het
Coro6	T	C	11: 77,357,322 (GRCm39)	V177A	probably benign	Het
Crip3	T	C	17: 46,742,210 (GRCm39)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,197,619 (GRCm39)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 33,148,447 (GRCm39)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,464,792 (GRCm39)	Q415*	probably null	Het
Dennd5b	A	G	6: 148,969,593 (GRCm39)	F287L	probably benign	Het
Dlg4	G	A	11: 69,908,057 (GRCm39)	R6K	probably benign	Het
Edc4	A	G	8: 106,614,033 (GRCm39)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,780,667 (GRCm39)		probably null	Het
Flt4	A	T	11: 49,541,897 (GRCm39)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,317,168 (GRCm39)		probably benign	Het
Gm4894	A	T	9: 49,189,970 (GRCm39)	I82L	unknown	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gpr176	A	C	2: 118,114,385 (GRCm39)		probably null	Het
Gtse1	T	C	15: 85,748,381 (GRCm39)	L262P	probably benign	Het
Il4ra	T	C	7: 125,166,393 (GRCm39)	W46R	probably damaging	Het
Itga11	A	G	9: 62,662,955 (GRCm39)	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,519,287 (GRCm39)		probably null	Het
Kcnh7	G	A	2: 63,014,441 (GRCm39)		probably benign	Het
Ly9	T	A	1: 171,429,396 (GRCm39)	Q230L	probably damaging	Het
Map2	C	A	1: 66,454,043 (GRCm39)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,388,732 (GRCm39)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,723,995 (GRCm39)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,844,537 (GRCm39)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm39)	P192L	probably damaging	Het
Mrpl37	T	C	4: 106,923,704 (GRCm39)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,404,420 (GRCm39)	G121D	probably benign	Het
Nabp1	A	G	1: 51,510,544 (GRCm39)	S153P	probably benign	Het
Nsun3	A	T	16: 62,590,049 (GRCm39)	F222I	probably benign	Het
Or4q3	A	G	14: 50,582,969 (GRCm39)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,991 (GRCm39)	D180V	probably benign	Het
Pex6	C	A	17: 47,025,384 (GRCm39)		probably null	Het
Phrf1	C	A	7: 140,839,015 (GRCm39)		probably benign	Het
Ppp1r36	A	G	12: 76,485,936 (GRCm39)	T365A	possibly damaging	Het
Ranbp10	A	G	8: 106,499,672 (GRCm39)	M519T	probably benign	Het
Rfx4	G	A	10: 84,675,881 (GRCm39)	W32*	probably null	Het
Ryr1	T	C	7: 28,723,666 (GRCm39)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,745,306 (GRCm39)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,263,385 (GRCm39)	D719G	probably benign	Het
Slfn9	A	G	11: 82,878,310 (GRCm39)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,205,037 (GRCm39)	E781G	probably benign	Het
Sspo	C	T	6: 48,471,110 (GRCm39)	P4686S	possibly damaging	Het
Stab1	G	T	14: 30,861,508 (GRCm39)	R2500S	probably benign	Het
Stox2	A	T	8: 47,656,182 (GRCm39)	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,225,213 (GRCm39)	S633P	probably damaging	Het
Tex51	G	T	18: 32,595,545 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,037,491 (GRCm39)		probably null	Het
Togaram2	T	A	17: 72,011,778 (GRCm39)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,797,113 (GRCm39)	S140P	possibly damaging	Het
Ttc29	A	T	8: 79,003,525 (GRCm39)	N247I	probably damaging	Het
Uso1	A	T	5: 92,340,589 (GRCm39)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,061,117 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,341,994 (GRCm39)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,349,617 (GRCm39)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,418,968 (GRCm39)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,741,977 (GRCm39)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,576,557 (GRCm39)	S175A	probably benign	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
R1480:Agbl4	UTSW	4	111,423,914 (GRCm39)	missense	possibly damaging	0.56
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
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'- GTGCTAATCTGTGCGACTTCC -3'
(R):5'- TTTGTTTCTACTAAGCATGGGACC -3'

Sequencing Primer
(F):5'- GCTAATCTGTGCGACTTCCTTTAAC -3'
(R):5'- TTCTACTAAGCATGGGACCAAGTTCC -3'

Posted On

2017-06-27