Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Rabgap1l'

421591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabgap1l

Ensembl Gene

ENSMUSG00000026721

Gene Name

RAB GTPase activating protein 1-like

Synonyms

Hh1, 8430421H08Rik, 5830411O09Rik, 9630005B12Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

160219174-160793211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160722169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 289 (V289D)

Ref Sequence

ENSEMBL: ENSMUSP00000141666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028049] [ENSMUST00000195442]

AlphaFold

A6H6A9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028049
AA Change: V317D

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

SMART Domains

Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: V317D

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
PTB	127	260	4.47e-20	SMART
Pfam:DUF3694	290	421	8.1e-41	PFAM
low complexity region	483	496	N/A	INTRINSIC
TBC	535	747	5.13e-67	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193191

Predicted Effect

probably damaging
Transcript: ENSMUST00000195442
AA Change: V289D

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

SMART Domains

Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: V289D

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
PTB	99	232	4.47e-20	SMART
Pfam:DUF3694	262	394	1.4e-42	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion are viable, fertile and overtly normal with no alterations in hematopoietic progenitor cell numbers or types. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	A	G	4: 144,423,844	Y56H	probably damaging	Het
A530016L24Rik	T	A	12: 112,496,883		probably null	Het
Adcy7	C	T	8: 88,318,319	R228*	probably null	Het
Cdcp1	T	C	9: 123,185,313	H132R	probably benign	Het
Cyp4a32	T	C	4: 115,602,303	I78T	probably benign	Het
Fap	A	T	2: 62,542,122		probably benign	Het
Gad1-ps	C	T	10: 99,444,779		noncoding transcript	Het
Gli3	T	C	13: 15,648,581	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,342,825	V97A	probably benign	Het
Hr	T	A	14: 70,563,420		probably null	Het
Itgax	C	T	7: 128,149,198	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,681,993	R339H	probably damaging	Het
Mast4	T	C	13: 102,737,107	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 94,476,855	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,399,477	G44D	probably damaging	Het
Nol8	A	T	13: 49,661,568	D366V	probably damaging	Het
Olfr539	C	A	7: 140,667,511	L68M	probably damaging	Het
Pde4d	A	T	13: 109,954,591		probably benign	Het
Ptpn22	C	A	3: 103,912,016	N795K	probably benign	Het
Slc50a1	T	C	3: 89,270,101	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,947,585		noncoding transcript	Het
Smarcad1	T	A	6: 65,092,526	F530Y	probably damaging	Het
Spag6	A	G	2: 18,742,873		probably benign	Het
Supt16	A	T	14: 52,178,141	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,684,260	N39S	probably benign	Het
Ubash3b	T	A	9: 41,037,479	Y180F	probably damaging	Het
Usp48	T	A	4: 137,639,295	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 57,839,099	T366A	probably benign	Het
Zfp456	A	T	13: 67,366,331	C419S	probably damaging	Het
Zfp69	T	C	4: 120,931,084	T345A	probably benign	Het

Other mutations in Rabgap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Rabgap1l	APN	1	160738969	missense	probably benign	0.02
IGL01309:Rabgap1l	APN	1	160700798	missense	probably benign	0.00
IGL01448:Rabgap1l	APN	1	160740745	splice site	probably benign
IGL01886:Rabgap1l	APN	1	160342042	missense	probably damaging	1.00
IGL02010:Rabgap1l	APN	1	160472071	missense	probably damaging	0.99
IGL02079:Rabgap1l	APN	1	160738970	missense	probably benign	0.00
IGL02800:Rabgap1l	APN	1	160472053	missense	possibly damaging	0.73
IGL03343:Rabgap1l	APN	1	160443283	missense	probably benign
IGL03388:Rabgap1l	APN	1	160733523	splice site	probably null
amerigo	UTSW	1	160724036	missense	probably damaging	1.00
hispaniola	UTSW	1	160645307	critical splice donor site	probably null
R0047:Rabgap1l	UTSW	1	160231789	splice site	probably benign
R0047:Rabgap1l	UTSW	1	160231789	splice site	probably benign
R0048:Rabgap1l	UTSW	1	160627369	splice site	probably benign
R0099:Rabgap1l	UTSW	1	160682116	missense	possibly damaging	0.89
R0201:Rabgap1l	UTSW	1	160453745	splice site	probably benign
R0432:Rabgap1l	UTSW	1	160722205	missense	probably benign	0.10
R1104:Rabgap1l	UTSW	1	160231875	splice site	probably benign
R1220:Rabgap1l	UTSW	1	160738909	missense	probably damaging	1.00
R1485:Rabgap1l	UTSW	1	160733680	missense	probably benign	0.06
R1569:Rabgap1l	UTSW	1	160702390	missense	probably benign	0.08
R1907:Rabgap1l	UTSW	1	160645310	missense	probably benign	0.07
R2128:Rabgap1l	UTSW	1	160738957	missense	probably benign	0.00
R2129:Rabgap1l	UTSW	1	160738957	missense	probably benign	0.00
R2177:Rabgap1l	UTSW	1	160724062	missense	possibly damaging	0.89
R4636:Rabgap1l	UTSW	1	160342090	splice site	probably null
R4722:Rabgap1l	UTSW	1	160342164	missense	possibly damaging	0.81
R4743:Rabgap1l	UTSW	1	160453783	missense	probably damaging	1.00
R4913:Rabgap1l	UTSW	1	160238541	missense	probably damaging	1.00
R4915:Rabgap1l	UTSW	1	160441842	missense	probably benign	0.01
R5035:Rabgap1l	UTSW	1	160724036	missense	probably damaging	1.00
R5087:Rabgap1l	UTSW	1	160722239	missense	probably damaging	1.00
R5437:Rabgap1l	UTSW	1	160722147	missense	probably damaging	1.00
R5507:Rabgap1l	UTSW	1	160351328	missense	possibly damaging	0.83
R5619:Rabgap1l	UTSW	1	160238572	missense	probably benign	0.00
R5691:Rabgap1l	UTSW	1	160735684	missense	probably damaging	1.00
R5837:Rabgap1l	UTSW	1	160307222	utr 3 prime	probably benign
R5881:Rabgap1l	UTSW	1	160342113	missense	probably damaging	1.00
R6045:Rabgap1l	UTSW	1	160645323	missense	probably benign	0.00
R6243:Rabgap1l	UTSW	1	160645307	critical splice donor site	probably null
R6294:Rabgap1l	UTSW	1	160231849	missense	probably benign	0.14
R6452:Rabgap1l	UTSW	1	160453761	missense	probably damaging	1.00
R6802:Rabgap1l	UTSW	1	160733680	missense	probably benign	0.06
R6945:Rabgap1l	UTSW	1	160682182	missense	probably benign	0.29
R7014:Rabgap1l	UTSW	1	160342072	missense	probably damaging	1.00
R7062:Rabgap1l	UTSW	1	160226650	missense	probably benign
R7089:Rabgap1l	UTSW	1	160724172	nonsense	probably null
R7170:Rabgap1l	UTSW	1	160645365	missense	probably damaging	1.00
R7172:Rabgap1l	UTSW	1	160733586	missense	probably benign	0.05
R7303:Rabgap1l	UTSW	1	160682097	missense	probably benign	0.01
R7357:Rabgap1l	UTSW	1	160342038	missense	probably damaging	1.00
R7466:Rabgap1l	UTSW	1	160226484	critical splice donor site	probably null
R7501:Rabgap1l	UTSW	1	160700788	missense	probably damaging	0.98
R7565:Rabgap1l	UTSW	1	160251417	missense
R7582:Rabgap1l	UTSW	1	160682084	missense	probably benign
R7740:Rabgap1l	UTSW	1	160682103	missense	probably benign	0.01
R7978:Rabgap1l	UTSW	1	160251268	missense
R7993:Rabgap1l	UTSW	1	160700854	missense	probably damaging	1.00
R8116:Rabgap1l	UTSW	1	160702442	missense	probably benign	0.22
R8672:Rabgap1l	UTSW	1	160443276	missense	probably damaging	1.00
R8986:Rabgap1l	UTSW	1	160257535	missense	probably damaging	0.99
R9010:Rabgap1l	UTSW	1	160700873	missense	possibly damaging	0.80
R9286:Rabgap1l	UTSW	1	160224248	nonsense	probably null
Z1177:Rabgap1l	UTSW	1	160739073	missense	possibly damaging	0.82

Posted On

2016-08-02