Mutagenetix > Incidental Mutation

Incidental Mutation 'R5297:Atg14'

405505

Institutional Source

Beutler Lab

Gene Symbol

Atg14

Ensembl Gene

ENSMUSG00000037526

Gene Name

autophagy related 14

Synonyms

Barkor, D14Ertd436e, D14Ertd114e

MMRRC Submission

042880-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47778350-47805891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47805656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 70 (R70C)

Ref Sequence

ENSEMBL: ENSMUSP00000153718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042988] [ENSMUST00000226299]

AlphaFold

Q8CDJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042988
AA Change: R70C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039047
Gene: ENSMUSG00000037526
AA Change: R70C

Domain	Start	End	E-Value	Type
Pfam:Atg14	43	393	1.1e-79	PFAM
low complexity region	447	464	N/A	INTRINSIC
low complexity region	465	480	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226299
AA Change: R70C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

unknown
Transcript: ENSMUST00000228784
AA Change: R69C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228790

Meta Mutation Damage Score

0.2264

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele following delivery of a Tat-cre exhibit increased mucin accumulation in colonic epithelial spheroids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,463,204 (GRCm39)	A135S	probably benign	Het
Agbl4	A	G	4: 111,423,895 (GRCm39)	K307R	possibly damaging	Het
Akna	T	C	4: 63,300,083 (GRCm39)	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,254,941 (GRCm39)	Y273H	probably damaging	Het
Atp1a1	C	T	3: 101,498,443 (GRCm39)	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,719,322 (GRCm39)	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345 (GRCm38)	N132Y	probably damaging	Het
Casp6	T	C	3: 129,704,204 (GRCm39)	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,127,290 (GRCm39)	N296S	possibly damaging	Het
Col6a4	T	C	9: 105,952,066 (GRCm39)	K611E	probably benign	Het
Copa	A	G	1: 171,940,675 (GRCm39)	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,011,629 (GRCm39)	N283K	probably benign	Het
Dcc	C	T	18: 71,511,809 (GRCm39)	V869I	probably benign	Het
Efemp1	G	T	11: 28,817,868 (GRCm39)	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,302,473 (GRCm39)	E373G	probably benign	Het
Fbxo9	T	C	9: 77,993,561 (GRCm39)	T318A	probably benign	Het
Gipr	A	G	7: 18,891,469 (GRCm39)	W403R	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Golgb1	G	A	16: 36,695,978 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,187 (GRCm39)	S393G	probably benign	Het
Herc3	T	C	6: 58,833,626 (GRCm39)	L171P	probably damaging	Het
Il5ra	A	G	6: 106,715,095 (GRCm39)	I221T	probably benign	Het
Itgb2	A	G	10: 77,400,501 (GRCm39)	I705V	probably damaging	Het
Map4k4	G	T	1: 40,001,377 (GRCm39)	V55F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mitf	G	T	6: 97,971,391 (GRCm39)	G186V	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Nrcam	T	C	12: 44,591,567 (GRCm39)	F204L	probably damaging	Het
Or10g1	A	G	14: 52,647,675 (GRCm39)	L218P	probably damaging	Het
Or10x4	A	G	1: 174,218,766 (GRCm39)	M44V	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e22	A	T	11: 73,377,215 (GRCm39)	V145E	probably damaging	Het
Or2a12	T	C	6: 42,904,371 (GRCm39)	S69P	probably benign	Het
Or52n4b	A	T	7: 108,144,611 (GRCm39)	N291I	probably damaging	Het
Or5as1	T	C	2: 86,980,793 (GRCm39)	I71V	probably benign	Het
Pclo	A	T	5: 14,726,263 (GRCm39)		probably benign	Het
Pik3ca	T	A	3: 32,504,202 (GRCm39)	Y631N	probably damaging	Het
Pramel19	T	A	4: 101,798,348 (GRCm39)	D106E	possibly damaging	Het
Ptk2b	T	C	14: 66,409,966 (GRCm39)	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,924 (GRCm39)	S427P	probably damaging	Het
Scn3a	T	A	2: 65,299,378 (GRCm39)	Y1376F	possibly damaging	Het
Shoc1	A	G	4: 59,047,543 (GRCm39)	W1359R	probably benign	Het
Spem1	A	G	11: 69,711,753 (GRCm39)	Y304H	probably damaging	Het
Stk38l	C	A	6: 146,677,153 (GRCm39)	Y450*	probably null	Het
Stx19	A	G	16: 62,642,337 (GRCm39)	E51G	probably damaging	Het
Ttc41	C	G	10: 86,612,443 (GRCm39)	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,258,303 (GRCm39)	R229H	probably damaging	Het
Utp18	A	T	11: 93,766,915 (GRCm39)	V264D	probably damaging	Het
V1rd19	T	C	7: 23,702,714 (GRCm39)	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819 (GRCm39)	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,570,715 (GRCm39)	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,339,805 (GRCm39)	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,038,832 (GRCm39)	F802L	probably damaging	Het
Vmn2r61	A	G	7: 41,909,646 (GRCm39)	D57G	probably benign	Het
Vps13c	A	G	9: 67,785,413 (GRCm39)	N260S	probably damaging	Het
Xirp1	C	A	9: 119,848,668 (GRCm39)	A72S	probably damaging	Het
Zfp212	T	C	6: 47,906,011 (GRCm39)	V190A	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Atg14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Atg14	APN	14	47,780,316 (GRCm39)	missense	probably benign	0.00
IGL02513:Atg14	APN	14	47,783,081 (GRCm39)	splice site	probably benign
IGL02513:Atg14	APN	14	47,786,451 (GRCm39)	missense	probably benign	0.03
PIT4243001:Atg14	UTSW	14	47,792,031 (GRCm39)	missense	possibly damaging	0.77
R1463:Atg14	UTSW	14	47,786,451 (GRCm39)	missense	probably benign	0.03
R1479:Atg14	UTSW	14	47,784,696 (GRCm39)	critical splice donor site	probably null
R1499:Atg14	UTSW	14	47,798,102 (GRCm39)	missense	probably benign
R1781:Atg14	UTSW	14	47,786,607 (GRCm39)	critical splice acceptor site	probably null
R1974:Atg14	UTSW	14	47,783,298 (GRCm39)	missense	probably damaging	1.00
R2089:Atg14	UTSW	14	47,780,352 (GRCm39)	missense	probably damaging	1.00
R2091:Atg14	UTSW	14	47,780,352 (GRCm39)	missense	probably damaging	1.00
R2091:Atg14	UTSW	14	47,780,352 (GRCm39)	missense	probably damaging	1.00
R2113:Atg14	UTSW	14	47,788,781 (GRCm39)	missense	probably damaging	1.00
R4231:Atg14	UTSW	14	47,788,802 (GRCm39)	missense	probably benign	0.00
R4232:Atg14	UTSW	14	47,788,802 (GRCm39)	missense	probably benign	0.00
R4233:Atg14	UTSW	14	47,788,802 (GRCm39)	missense	probably benign	0.00
R4234:Atg14	UTSW	14	47,788,802 (GRCm39)	missense	probably benign	0.00
R4236:Atg14	UTSW	14	47,788,802 (GRCm39)	missense	probably benign	0.00
R4360:Atg14	UTSW	14	47,805,827 (GRCm39)	missense	probably benign	0.00
R4711:Atg14	UTSW	14	47,783,298 (GRCm39)	missense	probably damaging	1.00
R4883:Atg14	UTSW	14	47,788,771 (GRCm39)	missense	probably damaging	1.00
R5025:Atg14	UTSW	14	47,783,273 (GRCm39)	missense	probably damaging	1.00
R5235:Atg14	UTSW	14	47,805,656 (GRCm39)	missense	probably damaging	0.98
R5250:Atg14	UTSW	14	47,805,656 (GRCm39)	missense	probably damaging	0.98
R5301:Atg14	UTSW	14	47,805,656 (GRCm39)	missense	probably damaging	0.98
R5338:Atg14	UTSW	14	47,805,656 (GRCm39)	missense	probably damaging	0.98
R5450:Atg14	UTSW	14	47,788,921 (GRCm39)	missense	probably benign
R5475:Atg14	UTSW	14	47,805,793 (GRCm39)	missense	possibly damaging	0.83
R5799:Atg14	UTSW	14	47,784,752 (GRCm39)	missense	possibly damaging	0.63
R6489:Atg14	UTSW	14	47,786,480 (GRCm39)	missense	probably damaging	0.97
R7589:Atg14	UTSW	14	47,780,547 (GRCm39)	missense	probably benign	0.00
R7908:Atg14	UTSW	14	47,806,050 (GRCm39)	unclassified	probably benign
R9478:Atg14	UTSW	14	47,783,138 (GRCm39)	missense	probably damaging	1.00
R9643:Atg14	UTSW	14	47,788,780 (GRCm39)	missense	probably damaging	0.99
Z1088:Atg14	UTSW	14	47,805,749 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAACCTACGTTCACCTAGC -3'
(R):5'- AGATCATCATGGCGTCTCCCAG -3'

Sequencing Primer
(F):5'- TACGTTCACCTAGCACCCAC -3'
(R):5'- AAGGGATCTTGGACGCCC -3'

Posted On

2016-07-22