Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03048:Rapgefl1'

391826

Institutional Source

Beutler Lab

Gene Symbol

Rapgefl1

Ensembl Gene

ENSMUSG00000038020

Gene Name

Rap guanine nucleotide exchange factor (GEF)-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL03048 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

98727611-98744519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98727990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 4 (L4P)

Ref Sequence

ENSEMBL: ENSMUSP00000103103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017384] [ENSMUST00000107479] [ENSMUST00000169695]

AlphaFold

Q68EF8

Predicted Effect

probably benign
Transcript: ENSMUST00000017384

SMART Domains

Protein: ENSMUSP00000017384
Gene: ENSMUSG00000078676

Domain	Start	End	E-Value	Type
low complexity region	18	62	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	89	109	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
Btz	138	246	1.02e-57	SMART
low complexity region	524	533	N/A	INTRINSIC
low complexity region	586	614	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	669	684	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107479
AA Change: L4P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103103
Gene: ENSMUSG00000038020
AA Change: L4P

Domain	Start	End	E-Value	Type
low complexity region	22	49	N/A	INTRINSIC
low complexity region	50	65	N/A	INTRINSIC
low complexity region	70	100	N/A	INTRINSIC
low complexity region	108	133	N/A	INTRINSIC
low complexity region	169	180	N/A	INTRINSIC
RasGEF	420	661	2.39e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169695

SMART Domains

Protein: ENSMUSP00000130926
Gene: ENSMUSG00000078676

Domain	Start	End	E-Value	Type
low complexity region	18	62	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	89	109	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC
Btz	138	246	1.02e-57	SMART
low complexity region	524	533	N/A	INTRINSIC
low complexity region	586	614	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	669	684	N/A	INTRINSIC

Meta Mutation Damage Score

0.0778

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,868,711 (GRCm39)		probably null	Het
Anapc4	C	T	5: 52,997,075 (GRCm39)	T116I	probably benign	Het
Arhgap45	C	T	10: 79,852,851 (GRCm39)	R14C	probably damaging	Het
Bysl	T	C	17: 47,913,560 (GRCm39)		probably null	Het
Ccdc166	T	A	15: 75,854,050 (GRCm39)	N10I	possibly damaging	Het
Chd1l	T	C	3: 97,505,079 (GRCm39)	S163G	probably benign	Het
Col6a3	A	G	1: 90,737,970 (GRCm39)	V576A	possibly damaging	Het
Cpped1	T	C	16: 11,646,339 (GRCm39)	T162A	probably benign	Het
Dcbld1	A	T	10: 52,180,722 (GRCm39)	I200F	probably damaging	Het
Dock6	T	C	9: 21,720,866 (GRCm39)	E1713G	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,198 (GRCm39)	T220S	probably damaging	Het
Evx1	T	C	6: 52,292,739 (GRCm39)	L130P	probably benign	Het
Fam168a	A	G	7: 100,484,545 (GRCm39)	T228A	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,094 (GRCm39)	A608V	probably benign	Het
Foxp4	A	T	17: 48,191,765 (GRCm39)	M124K	unknown	Het
Gabrr3	A	G	16: 59,250,493 (GRCm39)	H164R	probably benign	Het
Gapdhrt	T	A	14: 11,281,873 (GRCm38)	I21F	probably benign	Het
Greb1	C	T	12: 16,783,332 (GRCm39)	C134Y	probably damaging	Het
Hddc2	G	A	10: 31,192,332 (GRCm39)	V79I	possibly damaging	Het
Lbr	T	C	1: 181,666,109 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,459,084 (GRCm39)	R229K	possibly damaging	Het
Mtor	T	C	4: 148,630,847 (GRCm39)		probably benign	Het
Ncoa1	T	C	12: 4,317,922 (GRCm39)	R1137G	probably damaging	Het
Nlrp4d	T	C	7: 10,092,881 (GRCm39)		noncoding transcript	Het
Oasl1	T	A	5: 115,075,400 (GRCm39)	S487T	possibly damaging	Het
Oprm1	T	C	10: 6,779,064 (GRCm39)	I91T	probably damaging	Het
Or11j4	G	T	14: 50,630,245 (GRCm39)	V11L	possibly damaging	Het
Or1e26	G	C	11: 73,479,831 (GRCm39)	H244Q	possibly damaging	Het
Or8g33	A	G	9: 39,338,065 (GRCm39)	F101L	probably benign	Het
Pdzk1ip1	T	A	4: 114,950,181 (GRCm39)	D147E	probably benign	Het
Per1	A	G	11: 68,995,552 (GRCm39)	K711E	probably damaging	Het
Rab3gap1	A	G	1: 127,865,214 (GRCm39)	N734S	probably damaging	Het
Sgk2	A	G	2: 162,837,680 (GRCm39)	Y101C	probably damaging	Het
Tmem129	A	G	5: 33,812,811 (GRCm39)	V179A	possibly damaging	Het
Ttn	T	C	2: 76,719,259 (GRCm39)		probably benign	Het
Ttyh2	T	A	11: 114,587,521 (GRCm39)	M174K	probably benign	Het
Vmn2r13	G	A	5: 109,304,151 (GRCm39)	A760V	probably damaging	Het
Vmn2r82	A	T	10: 79,232,460 (GRCm39)	I820F	probably damaging	Het
Zswim4	T	C	8: 84,938,604 (GRCm39)	M1093V	possibly damaging	Het

Other mutations in Rapgefl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Rapgefl1	APN	11	98,737,961 (GRCm39)	missense	probably damaging	1.00
IGL03088:Rapgefl1	APN	11	98,740,058 (GRCm39)	missense	probably damaging	1.00
R1807:Rapgefl1	UTSW	11	98,736,815 (GRCm39)	critical splice donor site	probably null
R1862:Rapgefl1	UTSW	11	98,733,035 (GRCm39)	missense	probably benign
R4078:Rapgefl1	UTSW	11	98,740,803 (GRCm39)	missense	probably benign	0.34
R4079:Rapgefl1	UTSW	11	98,740,803 (GRCm39)	missense	probably benign	0.34
R4869:Rapgefl1	UTSW	11	98,741,935 (GRCm39)	missense	probably damaging	1.00
R5994:Rapgefl1	UTSW	11	98,740,986 (GRCm39)	missense	probably benign	0.06
R6275:Rapgefl1	UTSW	11	98,741,946 (GRCm39)	missense	probably damaging	1.00
R6930:Rapgefl1	UTSW	11	98,737,947 (GRCm39)	missense	probably damaging	1.00
R7138:Rapgefl1	UTSW	11	98,737,900 (GRCm39)	critical splice acceptor site	probably null
R7432:Rapgefl1	UTSW	11	98,741,940 (GRCm39)	missense	probably damaging	1.00
R7516:Rapgefl1	UTSW	11	98,736,960 (GRCm39)	missense	probably benign	0.12
R7761:Rapgefl1	UTSW	11	98,728,485 (GRCm39)	missense	probably benign	0.05
R7775:Rapgefl1	UTSW	11	98,741,980 (GRCm39)	missense	probably damaging	1.00
R7824:Rapgefl1	UTSW	11	98,741,980 (GRCm39)	missense	probably damaging	1.00
R8018:Rapgefl1	UTSW	11	98,731,166 (GRCm39)	critical splice donor site	probably null
R8099:Rapgefl1	UTSW	11	98,738,209 (GRCm39)	missense	probably damaging	0.98
R8501:Rapgefl1	UTSW	11	98,733,053 (GRCm39)	missense	possibly damaging	0.94
R8941:Rapgefl1	UTSW	11	98,731,101 (GRCm39)	missense	probably damaging	1.00
Z1088:Rapgefl1	UTSW	11	98,736,721 (GRCm39)	missense	probably damaging	0.99
Z1176:Rapgefl1	UTSW	11	98,736,807 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAGCCCAAGTTCAAGCCTC -3'
(R):5'- AGAGACCCCTAATGGCTCTC -3'

Sequencing Primer
(F):5'- TGAGAGCGAGCTCCTCTTC -3'
(R):5'- GCTCTCGGAGGAAAGCTG -3'

Posted On

2016-06-07