Mutagenetix > Incidental Mutation

Incidental Mutation 'R1220:Rabgap1l'

99977

Institutional Source

Beutler Lab

Gene Symbol

Rabgap1l

Ensembl Gene

ENSMUSG00000026721

Gene Name

RAB GTPase activating protein 1-like

Synonyms

5830411O09Rik, 9630005B12Rik, Hh1, 8430421H08Rik

MMRRC Submission

039289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1220 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160046744-160620781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160566479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 106 (D106E)

Ref Sequence

ENSEMBL: ENSMUSP00000141749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028049] [ENSMUST00000193810] [ENSMUST00000195442]

AlphaFold

A6H6A9

Predicted Effect

probably benign
Transcript: ENSMUST00000028049
AA Change: D106E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: D106E

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

probably damaging
Transcript: ENSMUST00000193810
AA Change: D106E

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

SMART Domains

Protein: ENSMUSP00000141749
Gene: ENSMUSG00000026721
AA Change: D106E

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
Blast:PTB	127	147	6e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000195442
AA Change: D78E

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: D78E

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

Meta Mutation Damage Score

0.0823

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

100% (35/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	A	7: 119,257,537 (GRCm39)	S407R	probably benign	Het
Add2	A	T	6: 86,063,982 (GRCm39)	M94L	possibly damaging	Het
Anks6	A	T	4: 47,025,767 (GRCm39)		probably benign	Het
Atxn1	A	G	13: 45,710,899 (GRCm39)	S678P	probably benign	Het
Ccnc	A	G	4: 21,732,491 (GRCm39)	Y76C	probably damaging	Het
Col1a1	G	T	11: 94,841,957 (GRCm39)	A1335S	unknown	Het
Col25a1	G	T	3: 130,182,574 (GRCm39)		probably benign	Het
Commd10	C	A	18: 47,220,107 (GRCm39)	Q195K	probably damaging	Het
Cps1	G	A	1: 67,243,862 (GRCm39)		probably null	Het
Cramp1	A	T	17: 25,201,211 (GRCm39)	V757D	probably damaging	Het
Cttn	T	C	7: 144,017,699 (GRCm39)	T13A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,189,493 (GRCm39)		probably benign	Het
Exoc3l2	T	A	7: 19,225,709 (GRCm39)		probably benign	Het
Fam118b	T	C	9: 35,134,969 (GRCm39)	S213G	possibly damaging	Het
Katnal1	G	A	5: 148,831,061 (GRCm39)	A171V	probably benign	Het
Lrig3	A	G	10: 125,832,945 (GRCm39)	N273S	probably damaging	Het
Lrriq1	G	A	10: 102,906,990 (GRCm39)	R1577W	probably benign	Het
Or1e26	A	C	11: 73,480,203 (GRCm39)	Y120*	probably null	Het
Or5p70	T	A	7: 107,994,539 (GRCm39)	S71T	probably benign	Het
Pmel	A	G	10: 128,549,929 (GRCm39)	D30G	probably benign	Het
Ppp1r15a	T	C	7: 45,173,293 (GRCm39)	Y505C	probably damaging	Het
Prpf40b	C	T	15: 99,214,229 (GRCm39)	R830C	probably benign	Het
Rad18	C	A	6: 112,626,625 (GRCm39)	E141*	probably null	Het
Ros1	C	T	10: 51,974,966 (GRCm39)	V1540M	probably damaging	Het
Secisbp2	G	A	13: 51,810,941 (GRCm39)	R201H	probably damaging	Het
Shisa6	A	G	11: 66,110,836 (GRCm39)	S302P	probably damaging	Het
Slamf9	C	A	1: 172,304,898 (GRCm39)	Q171K	probably benign	Het
Sox6	T	A	7: 115,261,677 (GRCm39)	T180S	probably damaging	Het
Ttn	T	C	2: 76,553,998 (GRCm39)	S30902G	possibly damaging	Het
Xirp1	A	G	9: 119,846,982 (GRCm39)	F634L	possibly damaging	Het
Yrdc	T	A	4: 124,748,329 (GRCm39)	S278T	possibly damaging	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
IGL03406:Rabgap1l	APN	1	160,549,739 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGCCCTTCTGAATGGCACTG -3'
(R):5'- TGCTCTGCCTTTAGATAGCTTCCAATG -3'

Sequencing Primer
(F):5'- cacccaaatgccaacttgac -3'
(R):5'- TAGCTTCCAATGGTGATGAGCAG -3'

Posted On

2014-01-15