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

5830411O09Rik, 9630005B12Rik, Hh1, 8430421H08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

160046744-160620781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160549739 bp (GRCm39)

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
A530016L24Rik	T	A	12: 112,463,317 (GRCm39)		probably null	Het
Adcy7	C	T	8: 89,044,947 (GRCm39)	R228*	probably null	Het
Cdcp1	T	C	9: 123,014,378 (GRCm39)	H132R	probably benign	Het
Cfap107	A	G	4: 144,150,414 (GRCm39)	Y56H	probably damaging	Het
Cyp4a32	T	C	4: 115,459,500 (GRCm39)	I78T	probably benign	Het
Fap	A	T	2: 62,372,466 (GRCm39)		probably benign	Het
Gad1-ps	C	T	10: 99,280,641 (GRCm39)		noncoding transcript	Het
Gli3	T	C	13: 15,823,166 (GRCm39)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,561,801 (GRCm39)	V97A	probably benign	Het
Hr	T	A	14: 70,800,860 (GRCm39)		probably null	Het
Itgax	C	T	7: 127,748,370 (GRCm39)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,566,194 (GRCm39)	R339H	probably damaging	Het
Mast4	T	C	13: 102,873,615 (GRCm39)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 95,203,483 (GRCm39)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,281,530 (GRCm39)	G44D	probably damaging	Het
Nol8	A	T	13: 49,815,044 (GRCm39)	D366V	probably damaging	Het
Or13a25	C	A	7: 140,247,424 (GRCm39)	L68M	probably damaging	Het
Pde4d	A	T	13: 110,091,125 (GRCm39)		probably benign	Het
Ptpn22	C	A	3: 103,819,332 (GRCm39)	N795K	probably benign	Het
Slc50a1	T	C	3: 89,177,408 (GRCm39)	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,875,310 (GRCm39)		noncoding transcript	Het
Smarcad1	T	A	6: 65,069,510 (GRCm39)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,747,684 (GRCm39)		probably benign	Het
Supt16	A	T	14: 52,415,598 (GRCm39)	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,591,567 (GRCm39)	N39S	probably benign	Het
Ubash3b	T	A	9: 40,948,775 (GRCm39)	Y180F	probably damaging	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 58,076,556 (GRCm39)	T366A	probably benign	Het
Zfp456	A	T	13: 67,514,450 (GRCm39)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,788,281 (GRCm39)	T345A	probably benign	Het

Other mutations in Rabgap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Rabgap1l	APN	1	160,566,539 (GRCm39)	missense	probably benign	0.02
IGL01309:Rabgap1l	APN	1	160,528,368 (GRCm39)	missense	probably benign	0.00
IGL01448:Rabgap1l	APN	1	160,568,315 (GRCm39)	splice site	probably benign
IGL01886:Rabgap1l	APN	1	160,169,612 (GRCm39)	missense	probably damaging	1.00
IGL02010:Rabgap1l	APN	1	160,299,641 (GRCm39)	missense	probably damaging	0.99
IGL02079:Rabgap1l	APN	1	160,566,540 (GRCm39)	missense	probably benign	0.00
IGL02800:Rabgap1l	APN	1	160,299,623 (GRCm39)	missense	possibly damaging	0.73
IGL03343:Rabgap1l	APN	1	160,270,853 (GRCm39)	missense	probably benign
IGL03388:Rabgap1l	APN	1	160,561,093 (GRCm39)	splice site	probably null
amerigo	UTSW	1	160,551,606 (GRCm39)	missense	probably damaging	1.00
hispaniola	UTSW	1	160,472,877 (GRCm39)	critical splice donor site	probably null
R0047:Rabgap1l	UTSW	1	160,059,359 (GRCm39)	splice site	probably benign
R0047:Rabgap1l	UTSW	1	160,059,359 (GRCm39)	splice site	probably benign
R0048:Rabgap1l	UTSW	1	160,454,939 (GRCm39)	splice site	probably benign
R0099:Rabgap1l	UTSW	1	160,509,686 (GRCm39)	missense	possibly damaging	0.89
R0201:Rabgap1l	UTSW	1	160,281,315 (GRCm39)	splice site	probably benign
R0432:Rabgap1l	UTSW	1	160,549,775 (GRCm39)	missense	probably benign	0.10
R1104:Rabgap1l	UTSW	1	160,059,445 (GRCm39)	splice site	probably benign
R1220:Rabgap1l	UTSW	1	160,566,479 (GRCm39)	missense	probably damaging	1.00
R1485:Rabgap1l	UTSW	1	160,561,250 (GRCm39)	missense	probably benign	0.06
R1569:Rabgap1l	UTSW	1	160,529,960 (GRCm39)	missense	probably benign	0.08
R1907:Rabgap1l	UTSW	1	160,472,880 (GRCm39)	missense	probably benign	0.07
R2128:Rabgap1l	UTSW	1	160,566,527 (GRCm39)	missense	probably benign	0.00
R2129:Rabgap1l	UTSW	1	160,566,527 (GRCm39)	missense	probably benign	0.00
R2177:Rabgap1l	UTSW	1	160,551,632 (GRCm39)	missense	possibly damaging	0.89
R4636:Rabgap1l	UTSW	1	160,169,660 (GRCm39)	splice site	probably null
R4722:Rabgap1l	UTSW	1	160,169,734 (GRCm39)	missense	possibly damaging	0.81
R4743:Rabgap1l	UTSW	1	160,281,353 (GRCm39)	missense	probably damaging	1.00
R4913:Rabgap1l	UTSW	1	160,066,111 (GRCm39)	missense	probably damaging	1.00
R4915:Rabgap1l	UTSW	1	160,269,412 (GRCm39)	missense	probably benign	0.01
R5035:Rabgap1l	UTSW	1	160,551,606 (GRCm39)	missense	probably damaging	1.00
R5087:Rabgap1l	UTSW	1	160,549,809 (GRCm39)	missense	probably damaging	1.00
R5437:Rabgap1l	UTSW	1	160,549,717 (GRCm39)	missense	probably damaging	1.00
R5507:Rabgap1l	UTSW	1	160,178,898 (GRCm39)	missense	possibly damaging	0.83
R5619:Rabgap1l	UTSW	1	160,066,142 (GRCm39)	missense	probably benign	0.00
R5691:Rabgap1l	UTSW	1	160,563,254 (GRCm39)	missense	probably damaging	1.00
R5837:Rabgap1l	UTSW	1	160,134,792 (GRCm39)	utr 3 prime	probably benign
R5881:Rabgap1l	UTSW	1	160,169,683 (GRCm39)	missense	probably damaging	1.00
R6045:Rabgap1l	UTSW	1	160,472,893 (GRCm39)	missense	probably benign	0.00
R6243:Rabgap1l	UTSW	1	160,472,877 (GRCm39)	critical splice donor site	probably null
R6294:Rabgap1l	UTSW	1	160,059,419 (GRCm39)	missense	probably benign	0.14
R6452:Rabgap1l	UTSW	1	160,281,331 (GRCm39)	missense	probably damaging	1.00
R6802:Rabgap1l	UTSW	1	160,561,250 (GRCm39)	missense	probably benign	0.06
R6945:Rabgap1l	UTSW	1	160,509,752 (GRCm39)	missense	probably benign	0.29
R7014:Rabgap1l	UTSW	1	160,169,642 (GRCm39)	missense	probably damaging	1.00
R7062:Rabgap1l	UTSW	1	160,054,220 (GRCm39)	missense	probably benign
R7089:Rabgap1l	UTSW	1	160,551,742 (GRCm39)	nonsense	probably null
R7170:Rabgap1l	UTSW	1	160,472,935 (GRCm39)	missense	probably damaging	1.00
R7172:Rabgap1l	UTSW	1	160,561,156 (GRCm39)	missense	probably benign	0.05
R7303:Rabgap1l	UTSW	1	160,509,667 (GRCm39)	missense	probably benign	0.01
R7357:Rabgap1l	UTSW	1	160,169,608 (GRCm39)	missense	probably damaging	1.00
R7466:Rabgap1l	UTSW	1	160,054,054 (GRCm39)	critical splice donor site	probably null
R7501:Rabgap1l	UTSW	1	160,528,358 (GRCm39)	missense	probably damaging	0.98
R7565:Rabgap1l	UTSW	1	160,078,987 (GRCm39)	missense
R7582:Rabgap1l	UTSW	1	160,509,654 (GRCm39)	missense	probably benign
R7740:Rabgap1l	UTSW	1	160,509,673 (GRCm39)	missense	probably benign	0.01
R7978:Rabgap1l	UTSW	1	160,078,838 (GRCm39)	missense
R7993:Rabgap1l	UTSW	1	160,528,424 (GRCm39)	missense	probably damaging	1.00
R8116:Rabgap1l	UTSW	1	160,530,012 (GRCm39)	missense	probably benign	0.22
R8672:Rabgap1l	UTSW	1	160,270,846 (GRCm39)	missense	probably damaging	1.00
R8986:Rabgap1l	UTSW	1	160,085,105 (GRCm39)	missense	probably damaging	0.99
R9010:Rabgap1l	UTSW	1	160,528,443 (GRCm39)	missense	possibly damaging	0.80
R9286:Rabgap1l	UTSW	1	160,051,818 (GRCm39)	nonsense	probably null
Z1177:Rabgap1l	UTSW	1	160,566,643 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02