Mutagenetix > Incidental Mutation

Incidental Mutation 'R7209:Atg4b'

560912

Institutional Source

Beutler Lab

Gene Symbol

Atg4b

Ensembl Gene

ENSMUSG00000026280

Gene Name

autophagy related 4B, cysteine peptidase

Synonyms

2510009N07Rik, autophagin 1, Apg4b

MMRRC Submission

045338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93682627-93717328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93702955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 128 (I128M)

Ref Sequence

ENSEMBL: ENSMUSP00000027502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000149436] [ENSMUST00000185482] [ENSMUST00000187824]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027502
AA Change: I128M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280
AA Change: I128M

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C54	39	335	4.4e-104	PFAM
low complexity region	375	393	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149436
AA Change: I131M

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123383
Gene: ENSMUSG00000026280
AA Change: I131M

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C54	42	150	6.9e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185482
AA Change: I128M

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

SMART Domains

Protein: ENSMUSP00000140758
Gene: ENSMUSG00000026280
AA Change: I128M

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C54	36	137	2.3e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187824
AA Change: I95M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139541
Gene: ENSMUSG00000026280
AA Change: I95M

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C54	61	121	1.5e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased autophagy, impaired swimming, circling, head tilting, and abnormal utricle, saccular, and otolith morphology. Mice homozygous for another gene trap allele exhibit partial preweaning lethality and impaired motor coordination and learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	G	14: 68,767,268 (GRCm39)	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,441,797 (GRCm39)	V966G	possibly damaging	Het
Adh5	G	A	3: 138,148,909 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,333,207 (GRCm39)	V28A	probably damaging	Het
Apbb1	T	A	7: 105,215,292 (GRCm39)	I450F	probably damaging	Het
Arhgap23	C	T	11: 97,366,911 (GRCm39)	T1064I	probably damaging	Het
Arhgap23	G	C	11: 97,383,273 (GRCm39)		probably null	Het
Baat	A	T	4: 49,503,065 (GRCm39)	I19N	probably damaging	Het
Bspry	T	G	4: 62,404,852 (GRCm39)	I216S	possibly damaging	Het
Commd9	T	A	2: 101,725,483 (GRCm39)	S19T	possibly damaging	Het
Cr2	A	G	1: 194,851,032 (GRCm39)	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,677,649 (GRCm39)	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,519,389 (GRCm39)	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,340,369 (GRCm39)	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,371 (GRCm39)	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,221,874 (GRCm39)	H89Q	probably damaging	Het
Dop1b	T	A	16: 93,566,733 (GRCm39)	N1171K	probably benign	Het
Dscam	T	C	16: 96,451,544 (GRCm39)		probably null	Het
Entpd5	T	A	12: 84,443,702 (GRCm39)	S14C	probably benign	Het
Eqtn	G	A	4: 94,813,806 (GRCm39)	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fgf18	A	T	11: 33,084,315 (GRCm39)	D46E	probably benign	Het
Foxa1	T	A	12: 57,590,077 (GRCm39)	M48L	probably benign	Het
Gabrg1	C	A	5: 70,911,513 (GRCm39)	C417F	probably damaging	Het
Glrp1	T	A	1: 88,431,004 (GRCm39)	Q122L	unknown	Het
Gm5622	A	G	14: 51,893,363 (GRCm39)	I97V	possibly damaging	Het
Gusb	A	G	5: 130,027,387 (GRCm39)	V306A	probably benign	Het
Hars1	A	G	18: 36,906,593 (GRCm39)	S126P	probably benign	Het
Herc1	A	G	9: 66,292,314 (GRCm39)	S356G	possibly damaging	Het
Hydin	C	A	8: 111,216,424 (GRCm39)	Y1336*	probably null	Het
Iftap	T	C	2: 101,396,727 (GRCm39)	*217W	probably null	Het
Kin	T	C	2: 10,096,564 (GRCm39)	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,604,266 (GRCm39)	V101M	probably benign	Het
Madcam1	A	T	10: 79,500,892 (GRCm39)	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,554,395 (GRCm39)	C112R	unknown	Het
Mia2	T	A	12: 59,201,176 (GRCm39)	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,479,996 (GRCm39)	V21M	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nln	G	A	13: 104,209,406 (GRCm39)	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,444,297 (GRCm39)	V82A	probably benign	Het
Obscn	C	A	11: 58,975,933 (GRCm39)	E2065*	probably null	Het
Or10g1	A	G	14: 52,647,550 (GRCm39)	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,869,126 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,097,150 (GRCm39)	D99E	probably benign	Het
Polr2b	T	A	5: 77,491,026 (GRCm39)	F956I	probably damaging	Het
Ppp3cc	A	G	14: 70,504,947 (GRCm39)	F20L	probably benign	Het
Prmt9	T	C	8: 78,291,627 (GRCm39)	V333A	probably benign	Het
Psd4	T	C	2: 24,287,357 (GRCm39)	S430P	probably damaging	Het
Relch	C	A	1: 105,678,082 (GRCm39)	P1136T	probably damaging	Het
Rrp12	A	C	19: 41,861,388 (GRCm39)	V973G	possibly damaging	Het
Rxfp2	A	G	5: 149,976,563 (GRCm39)		probably null	Het
S100a6	G	A	3: 90,521,095 (GRCm39)	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,745,151 (GRCm39)	G717V	probably damaging	Het
Sipa1	A	G	19: 5,705,003 (GRCm39)	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,719,669 (GRCm39)		probably null	Het
Spopfm3	A	T	3: 94,106,012 (GRCm39)	Q110L	probably benign	Het
Srbd1	C	A	17: 86,308,948 (GRCm39)	L743F	probably damaging	Het
Taar2	A	T	10: 23,816,597 (GRCm39)	I46F	possibly damaging	Het
Tmem241	A	T	18: 12,237,229 (GRCm39)	V69D	probably damaging	Het
Tns1	T	C	1: 73,993,074 (GRCm39)	S535G	possibly damaging	Het
Trgc3	A	G	13: 19,445,334 (GRCm39)	N94S	probably benign	Het
Ttc34	C	A	4: 154,923,585 (GRCm39)	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,693,246 (GRCm39)	R1720L	probably benign	Het
Ubr3	T	A	2: 69,846,478 (GRCm39)	D1597E	probably benign	Het
Unc79	T	C	12: 103,091,883 (GRCm39)	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,751,576 (GRCm39)	I603F	not run	Het
Vps26b	A	T	9: 26,921,288 (GRCm39)	S304T	probably benign	Het
Zfp952	A	T	17: 33,222,444 (GRCm39)	T308S	possibly damaging	Het

Other mutations in Atg4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:Atg4b	APN	1	93,713,626 (GRCm39)	splice site	probably benign
IGL01875:Atg4b	APN	1	93,706,032 (GRCm39)	missense	probably damaging	1.00
IGL02884:Atg4b	APN	1	93,715,437 (GRCm39)	utr 3 prime	probably benign
R0050:Atg4b	UTSW	1	93,715,440 (GRCm39)	utr 3 prime	probably benign
R0050:Atg4b	UTSW	1	93,715,440 (GRCm39)	utr 3 prime	probably benign
R0387:Atg4b	UTSW	1	93,714,278 (GRCm39)	missense	probably benign	0.02
R0533:Atg4b	UTSW	1	93,712,632 (GRCm39)	splice site	probably benign
R2382:Atg4b	UTSW	1	93,712,564 (GRCm39)	missense	probably damaging	1.00
R3113:Atg4b	UTSW	1	93,703,426 (GRCm39)	splice site	probably benign
R3730:Atg4b	UTSW	1	93,695,997 (GRCm39)	missense	probably damaging	0.99
R4303:Atg4b	UTSW	1	93,695,984 (GRCm39)	missense	probably benign	0.02
R4612:Atg4b	UTSW	1	93,714,263 (GRCm39)	missense	probably damaging	1.00
R5027:Atg4b	UTSW	1	93,714,297 (GRCm39)	missense	probably benign	0.00
R5048:Atg4b	UTSW	1	93,703,380 (GRCm39)	missense	possibly damaging	0.75
R5427:Atg4b	UTSW	1	93,702,928 (GRCm39)	missense	probably damaging	1.00
R5735:Atg4b	UTSW	1	93,701,519 (GRCm39)	missense	probably damaging	1.00
R8194:Atg4b	UTSW	1	93,713,694 (GRCm39)	nonsense	probably null
R8214:Atg4b	UTSW	1	93,712,609 (GRCm39)	missense	probably damaging	1.00
R8724:Atg4b	UTSW	1	93,696,023 (GRCm39)	missense	probably damaging	0.99
R8949:Atg4b	UTSW	1	93,715,479 (GRCm39)	makesense	probably null
R8987:Atg4b	UTSW	1	93,706,081 (GRCm39)	missense	possibly damaging	0.54
R9357:Atg4b	UTSW	1	93,713,648 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATCTGAATATTGAACACTGTGC -3'
(R):5'- CTGCACAGAGTCACTCACTG -3'

Sequencing Primer
(F):5'- ACTGTGCAAGTGGAAGGTTTG -3'
(R):5'- TCACTCACTGCAGGCTGTACAG -3'

Posted On

2019-06-26