Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02342:Garin1b'

289124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Garin1b

Ensembl Gene

ENSMUSG00000039742

Gene Name

golgi associated RAB2 interactor 1B

Synonyms

LOC330277, Fam71f1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

29319139-29336018 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29323829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 185 (T185A)

Ref Sequence

ENSEMBL: ENSMUSP00000132703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090487] [ENSMUST00000163229] [ENSMUST00000164560] [ENSMUST00000166462]

AlphaFold

Q3UZD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090487
AA Change: T185A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087973
Gene: ENSMUSG00000039742
AA Change: T185A

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
Pfam:DUF3699	136	210	5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163229

SMART Domains

Protein: ENSMUSP00000132402
Gene: ENSMUSG00000039742

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164560
AA Change: T185A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126496
Gene: ENSMUSG00000039742
AA Change: T185A

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
Pfam:DUF3699	137	208	7e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166462
AA Change: T185A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132703
Gene: ENSMUSG00000039742
AA Change: T185A

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC
Pfam:DUF3699	136	210	3.1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171782

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,050,997 (GRCm39)	P97Q	probably damaging	Het
Abcb10	A	T	8: 124,688,773 (GRCm39)	V501E	probably damaging	Het
Acsf3	T	C	8: 123,544,237 (GRCm39)	Y572H	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Alox8	A	G	11: 69,077,053 (GRCm39)	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,296,305 (GRCm39)	T920I	probably benign	Het
Brca2	C	A	5: 150,466,289 (GRCm39)	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,490,069 (GRCm39)	H45N	probably damaging	Het
C1s2	A	G	6: 124,609,075 (GRCm39)	F155L	probably damaging	Het
Ccser2	A	G	14: 36,640,562 (GRCm39)		probably benign	Het
Cd8a	T	A	6: 71,350,723 (GRCm39)	C63S	probably damaging	Het
Clk2	A	T	3: 89,082,998 (GRCm39)	T424S	probably benign	Het
Cntn1	A	G	15: 92,143,898 (GRCm39)	E287G	probably benign	Het
Cobl	A	C	11: 12,203,672 (GRCm39)	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,557,178 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,766,633 (GRCm39)		probably null	Het
Defb26	T	C	2: 152,350,121 (GRCm39)	N53S	possibly damaging	Het
Duox1	A	T	2: 122,177,793 (GRCm39)	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246 (GRCm39)	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,847,910 (GRCm39)	E116G	possibly damaging	Het
Gdap2	G	A	3: 100,085,632 (GRCm39)	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,803 (GRCm39)	R571G	probably benign	Het
Hjv	G	A	3: 96,435,488 (GRCm39)	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,603 (GRCm39)		probably null	Het
Ift70a1	G	T	2: 75,810,976 (GRCm39)	T369K	probably benign	Het
Ighv1-75	T	G	12: 115,797,878 (GRCm39)		probably benign	Het
Ikzf1	A	G	11: 11,650,216 (GRCm39)		probably benign	Het
Itprid2	A	G	2: 79,490,629 (GRCm39)	N943S	probably benign	Het
Kdm4d	A	G	9: 14,374,860 (GRCm39)	W333R	probably damaging	Het
Lama3	A	T	18: 12,624,533 (GRCm39)	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,743,959 (GRCm39)	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,172,976 (GRCm39)	Y884C	probably damaging	Het
Naip6	G	T	13: 100,439,748 (GRCm39)	P340T	possibly damaging	Het
Nfkbib	G	T	7: 28,461,528 (GRCm39)	H70N	probably damaging	Het
Nol4	A	T	18: 22,903,926 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,891,914 (GRCm39)	A6873T	probably benign	Het
Or2ag1	A	G	7: 106,313,232 (GRCm39)	S219P	probably benign	Het
Or51b4	T	A	7: 103,530,587 (GRCm39)	I288F	probably benign	Het
Or6x1	T	A	9: 40,098,823 (GRCm39)	N137K	probably benign	Het
Paqr6	A	G	3: 88,273,491 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,710,493 (GRCm39)	D274V	probably damaging	Het
Phip	A	G	9: 82,768,745 (GRCm39)	Y1196H	probably damaging	Het
Prc1	T	C	7: 79,959,190 (GRCm39)	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,685,276 (GRCm39)		probably benign	Het
Tac1	G	T	6: 7,559,119 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,198,624 (GRCm39)	S1319T	possibly damaging	Het
Tg	A	G	15: 66,636,140 (GRCm39)	T576A	probably benign	Het
Thbs2	A	T	17: 14,896,578 (GRCm39)	D770E	probably damaging	Het
Tmem117	T	C	15: 94,909,331 (GRCm39)	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,255,972 (GRCm39)	I209T	possibly damaging	Het
Wrap53	A	G	11: 69,454,417 (GRCm39)	F244L	probably damaging	Het
Wrap73	A	T	4: 154,233,237 (GRCm39)	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,467,434 (GRCm39)	T2531S	probably benign	Het

Other mutations in Garin1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Garin1b	APN	6	29,320,700 (GRCm39)	missense	probably damaging	0.99
R0402:Garin1b	UTSW	6	29,323,901 (GRCm39)	missense	probably benign	0.01
R0467:Garin1b	UTSW	6	29,326,606 (GRCm39)	missense	probably damaging	1.00
R0610:Garin1b	UTSW	6	29,326,576 (GRCm39)	missense	probably benign	0.01
R1773:Garin1b	UTSW	6	29,334,152 (GRCm39)	missense	possibly damaging	0.83
R1950:Garin1b	UTSW	6	29,335,815 (GRCm39)	splice site	probably null
R4259:Garin1b	UTSW	6	29,320,800 (GRCm39)	missense	probably damaging	1.00
R4305:Garin1b	UTSW	6	29,326,611 (GRCm39)	missense	probably damaging	1.00
R4351:Garin1b	UTSW	6	29,320,800 (GRCm39)	missense	probably damaging	1.00
R4508:Garin1b	UTSW	6	29,323,764 (GRCm39)	missense	probably benign	0.04
R5014:Garin1b	UTSW	6	29,326,723 (GRCm39)	intron	probably benign
R5249:Garin1b	UTSW	6	29,323,896 (GRCm39)	missense	probably damaging	1.00
R5506:Garin1b	UTSW	6	29,319,297 (GRCm39)	missense	probably damaging	1.00
R6212:Garin1b	UTSW	6	29,319,373 (GRCm39)	missense	probably damaging	1.00
R6456:Garin1b	UTSW	6	29,334,045 (GRCm39)	missense	probably benign
R6949:Garin1b	UTSW	6	29,323,905 (GRCm39)	missense	probably damaging	1.00
R7047:Garin1b	UTSW	6	29,323,809 (GRCm39)	missense	probably damaging	1.00
R7562:Garin1b	UTSW	6	29,323,833 (GRCm39)	missense	probably damaging	1.00
R8346:Garin1b	UTSW	6	29,334,030 (GRCm39)	missense	probably damaging	1.00
R9061:Garin1b	UTSW	6	29,323,902 (GRCm39)	missense	probably benign	0.27
X0065:Garin1b	UTSW	6	29,326,660 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16