Mutagenetix > Incidental Mutation

Incidental Mutation 'R1593:Rapgef6'

175624

Institutional Source

Beutler Lab

Gene Symbol

Rapgef6

Ensembl Gene

ENSMUSG00000037533

Gene Name

Rap guanine nucleotide exchange factor (GEF) 6

Synonyms

PDZ-GEF2, C030018K18Rik, Pdzgef2, RA-GEF-2

MMRRC Submission

039630-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1593 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

54413673-54590111 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TG to TGG at 54437223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101206] [ENSMUST00000102743] [ENSMUST00000108895] [ENSMUST00000207429]

AlphaFold

Q5NCJ1

Predicted Effect

probably null
Transcript: ENSMUST00000101206

SMART Domains

Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533

Domain	Start	End	E-Value	Type
internal_repeat_1	10	82	1.45e-5	PROSPERO
low complexity region	187	205	N/A	INTRINSIC
low complexity region	231	239	N/A	INTRINSIC
cNMP	280	398	4.8e-13	SMART
RasGEFN	412	525	4.35e-33	SMART
PDZ	540	612	8.86e-16	SMART
low complexity region	694	705	N/A	INTRINSIC
RA	749	835	1.47e-20	SMART
RasGEF	856	1095	5.35e-87	SMART
low complexity region	1237	1250	N/A	INTRINSIC
low complexity region	1270	1293	N/A	INTRINSIC
low complexity region	1345	1364	N/A	INTRINSIC
low complexity region	1368	1380	N/A	INTRINSIC
low complexity region	1444	1452	N/A	INTRINSIC
low complexity region	1555	1568	N/A	INTRINSIC
low complexity region	1591	1604	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102743

SMART Domains

Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533

Domain	Start	End	E-Value	Type
internal_repeat_1	10	82	1.42e-5	PROSPERO
low complexity region	187	205	N/A	INTRINSIC
low complexity region	231	239	N/A	INTRINSIC
cNMP	280	398	4.8e-13	SMART
RasGEFN	412	525	4.35e-33	SMART
PDZ	540	612	8.86e-16	SMART
low complexity region	694	705	N/A	INTRINSIC
RA	749	835	1.47e-20	SMART
RasGEF	856	1138	3.88e-84	SMART
low complexity region	1229	1242	N/A	INTRINSIC
low complexity region	1262	1285	N/A	INTRINSIC
low complexity region	1337	1356	N/A	INTRINSIC
low complexity region	1360	1372	N/A	INTRINSIC
low complexity region	1436	1444	N/A	INTRINSIC
low complexity region	1547	1560	N/A	INTRINSIC
low complexity region	1583	1596	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108895

SMART Domains

Protein: ENSMUSP00000104523
Gene: ENSMUSG00000037533

Domain	Start	End	E-Value	Type
internal_repeat_1	10	82	1.95e-5	PROSPERO
low complexity region	187	205	N/A	INTRINSIC
low complexity region	231	239	N/A	INTRINSIC
cNMP	280	398	4.8e-13	SMART
RasGEFN	412	526	1.03e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155132

Predicted Effect

probably null
Transcript: ENSMUST00000207429

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production. [provided by MGI curators]

Allele List at MGI

All alleles(16) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(13)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	T	11: 100,372,581 (GRCm39)	I902N	possibly damaging	Het
Acsl6	A	G	11: 54,214,134 (GRCm39)	D88G	probably damaging	Het
Adam1a	A	C	5: 121,657,706 (GRCm39)	I529S	probably benign	Het
Ap3b1	T	C	13: 94,638,435 (GRCm39)	V838A	unknown	Het
Arrdc2	T	C	8: 71,289,764 (GRCm39)	Y280C	probably damaging	Het
Atg10	T	C	13: 91,302,380 (GRCm39)	T53A	probably benign	Het
Ccdc136	T	C	6: 29,415,583 (GRCm39)	S699P	probably damaging	Het
Cdc23	C	A	18: 34,769,379 (GRCm39)	V462L	possibly damaging	Het
Clcn6	C	T	4: 148,099,051 (GRCm39)	A431T	probably benign	Het
Cntn6	T	G	6: 104,809,541 (GRCm39)	H525Q	possibly damaging	Het
Ctr9	T	C	7: 110,642,060 (GRCm39)	F296S	possibly damaging	Het
Ctsq	T	A	13: 61,183,986 (GRCm39)		probably null	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Epha6	A	T	16: 60,245,267 (GRCm39)	F311I	probably damaging	Het
Esrrg	A	T	1: 187,798,582 (GRCm39)	T150S	possibly damaging	Het
Exoc2	C	A	13: 31,040,744 (GRCm39)	R758L	possibly damaging	Het
Exosc7	G	C	9: 122,961,058 (GRCm39)	V242L	probably benign	Het
Fcho2	T	C	13: 98,921,315 (GRCm39)	D190G	possibly damaging	Het
Fgd6	T	C	10: 93,880,894 (GRCm39)	S583P	probably damaging	Het
Frmd4a	A	G	2: 4,477,999 (GRCm39)	Y60C	probably damaging	Het
Gldc	A	T	19: 30,091,150 (GRCm39)	I815N	probably damaging	Het
Grm2	A	T	9: 106,528,113 (GRCm39)	L257Q	probably damaging	Het
Hectd3	C	A	4: 116,854,217 (GRCm39)	T289K	possibly damaging	Het
Itgb4	T	C	11: 115,871,817 (GRCm39)	V207A	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Meis2	T	A	2: 115,830,745 (GRCm39)	D256V	probably damaging	Het
Muc4	A	G	16: 32,754,686 (GRCm38)	N1520S	probably benign	Het
Nckap1l	A	G	15: 103,387,281 (GRCm39)	R719G	probably null	Het
Or6c210	A	T	10: 129,496,094 (GRCm39)	R140*	probably null	Het
Pabpc6	A	T	17: 9,886,742 (GRCm39)	M603K	probably damaging	Het
Pcnx2	C	A	8: 126,486,012 (GRCm39)	R1862L	probably benign	Het
Pgap6	T	A	17: 26,337,381 (GRCm39)	I399N	possibly damaging	Het
Pon2	T	C	6: 5,273,003 (GRCm39)	D122G	probably benign	Het
Ppig	T	A	2: 69,579,425 (GRCm39)	W378R	unknown	Het
Ralgapa1	T	A	12: 55,817,488 (GRCm39)	E389D	probably damaging	Het
Rarg	A	G	15: 102,148,376 (GRCm39)	F233L	probably damaging	Het
Rasgrp2	T	C	19: 6,453,490 (GRCm39)	F90L	possibly damaging	Het
Rrp12	T	A	19: 41,851,680 (GRCm39)	H1285L	probably benign	Het
Slc16a13	C	A	11: 70,109,908 (GRCm39)	A198S	probably benign	Het
Spag9	A	G	11: 93,988,059 (GRCm39)	D441G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,414 (GRCm39)	F1099S	probably damaging	Het
Tex19.1	T	A	11: 121,038,079 (GRCm39)	W146R	probably damaging	Het
Tmod3	T	C	9: 75,418,445 (GRCm39)	D197G	probably benign	Het
Tpp2	A	G	1: 44,014,593 (GRCm39)	H644R	probably benign	Het
Trpm2	A	G	10: 77,778,910 (GRCm39)	V352A	possibly damaging	Het
Tulp1	T	C	17: 28,581,675 (GRCm39)	K233E	probably damaging	Het
Vsir	A	G	10: 60,193,737 (GRCm39)	T67A	possibly damaging	Het
Wdr49	T	C	3: 75,304,248 (GRCm39)	N487S	probably benign	Het
Zbtb20	A	G	16: 43,429,786 (GRCm39)	N99S	probably damaging	Het
Zfp583	C	T	7: 6,320,008 (GRCm39)	G335S	probably benign	Het
Zgrf1	T	A	3: 127,354,675 (GRCm39)	V98E	possibly damaging	Het

Other mutations in Rapgef6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Rapgef6	APN	11	54,570,091 (GRCm39)	missense	probably benign	0.00
IGL00507:Rapgef6	APN	11	54,554,935 (GRCm39)	nonsense	probably null
IGL00809:Rapgef6	APN	11	54,540,126 (GRCm39)	missense	probably damaging	1.00
IGL00843:Rapgef6	APN	11	54,582,099 (GRCm39)	missense	probably benign	0.03
IGL00899:Rapgef6	APN	11	54,510,844 (GRCm39)	nonsense	probably null
IGL01372:Rapgef6	APN	11	54,559,437 (GRCm39)	splice site	probably benign
IGL01604:Rapgef6	APN	11	54,585,389 (GRCm39)	missense	probably damaging	0.99
IGL01935:Rapgef6	APN	11	54,501,668 (GRCm39)	missense	possibly damaging	0.78
IGL01991:Rapgef6	APN	11	54,443,695 (GRCm39)	missense	probably benign	0.37
IGL02243:Rapgef6	APN	11	54,567,226 (GRCm39)	missense	probably damaging	1.00
IGL02407:Rapgef6	APN	11	54,567,181 (GRCm39)	missense	possibly damaging	0.91
IGL02676:Rapgef6	APN	11	54,540,172 (GRCm39)	unclassified	probably benign
IGL02934:Rapgef6	APN	11	54,516,690 (GRCm39)	missense	probably damaging	1.00
IGL03076:Rapgef6	APN	11	54,516,793 (GRCm39)	missense	probably damaging	1.00
IGL03110:Rapgef6	APN	11	54,586,915 (GRCm39)	missense	probably damaging	0.97
IGL03256:Rapgef6	APN	11	54,548,255 (GRCm39)	missense	probably damaging	1.00
shocker	UTSW	11	54,510,842 (GRCm39)	missense	probably damaging	1.00
D4216:Rapgef6	UTSW	11	54,559,572 (GRCm39)	splice site	probably benign
PIT4305001:Rapgef6	UTSW	11	54,570,203 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Rapgef6	UTSW	11	54,582,446 (GRCm39)	missense	probably damaging	0.98
R0047:Rapgef6	UTSW	11	54,437,204 (GRCm39)	missense	possibly damaging	0.65
R0047:Rapgef6	UTSW	11	54,437,204 (GRCm39)	missense	possibly damaging	0.65
R0125:Rapgef6	UTSW	11	54,516,701 (GRCm39)	nonsense	probably null
R0189:Rapgef6	UTSW	11	54,582,075 (GRCm39)	missense	probably benign
R0201:Rapgef6	UTSW	11	54,510,767 (GRCm39)	missense	probably damaging	1.00
R0505:Rapgef6	UTSW	11	54,516,789 (GRCm39)	missense	probably benign	0.00
R0524:Rapgef6	UTSW	11	54,581,110 (GRCm39)	missense	probably benign	0.32
R0853:Rapgef6	UTSW	11	54,559,503 (GRCm39)	missense	probably damaging	1.00
R1203:Rapgef6	UTSW	11	54,582,525 (GRCm39)	missense	probably benign	0.09
R1440:Rapgef6	UTSW	11	54,517,534 (GRCm39)	missense	probably damaging	1.00
R1453:Rapgef6	UTSW	11	54,530,553 (GRCm39)	splice site	probably null
R1530:Rapgef6	UTSW	11	54,552,009 (GRCm39)	missense	probably damaging	1.00
R1620:Rapgef6	UTSW	11	54,517,420 (GRCm39)	missense	possibly damaging	0.88
R1628:Rapgef6	UTSW	11	54,437,223 (GRCm39)	frame shift	probably null
R1629:Rapgef6	UTSW	11	54,437,223 (GRCm39)	frame shift	probably null
R1630:Rapgef6	UTSW	11	54,437,223 (GRCm39)	frame shift	probably null
R1634:Rapgef6	UTSW	11	54,437,223 (GRCm39)	frame shift	probably null
R1640:Rapgef6	UTSW	11	54,548,231 (GRCm39)	missense	probably damaging	1.00
R1686:Rapgef6	UTSW	11	54,582,458 (GRCm39)	missense	possibly damaging	0.81
R1722:Rapgef6	UTSW	11	54,437,223 (GRCm39)	frame shift	probably null
R1743:Rapgef6	UTSW	11	54,567,110 (GRCm39)	missense	probably damaging	1.00
R1816:Rapgef6	UTSW	11	54,585,314 (GRCm39)	missense	probably benign
R1851:Rapgef6	UTSW	11	54,533,637 (GRCm39)	missense	probably benign	0.01
R1852:Rapgef6	UTSW	11	54,533,637 (GRCm39)	missense	probably benign	0.01
R1868:Rapgef6	UTSW	11	54,437,223 (GRCm39)	frame shift	probably null
R1888:Rapgef6	UTSW	11	54,551,654 (GRCm39)	missense	probably damaging	1.00
R1888:Rapgef6	UTSW	11	54,551,654 (GRCm39)	missense	probably damaging	1.00
R1942:Rapgef6	UTSW	11	54,548,089 (GRCm39)	missense	possibly damaging	0.95
R1943:Rapgef6	UTSW	11	54,548,089 (GRCm39)	missense	possibly damaging	0.95
R2031:Rapgef6	UTSW	11	54,443,684 (GRCm39)	missense	probably benign	0.30
R2087:Rapgef6	UTSW	11	54,522,075 (GRCm39)	missense	probably damaging	1.00
R2106:Rapgef6	UTSW	11	54,559,512 (GRCm39)	missense	probably benign	0.17
R2362:Rapgef6	UTSW	11	54,585,098 (GRCm39)	missense	probably damaging	1.00
R2484:Rapgef6	UTSW	11	54,533,582 (GRCm39)	missense	possibly damaging	0.48
R2566:Rapgef6	UTSW	11	54,578,537 (GRCm39)	missense	possibly damaging	0.66
R2872:Rapgef6	UTSW	11	54,552,001 (GRCm39)	missense	probably damaging	1.00
R2872:Rapgef6	UTSW	11	54,552,001 (GRCm39)	missense	probably damaging	1.00
R3744:Rapgef6	UTSW	11	54,516,760 (GRCm39)	missense	probably benign	0.40
R3848:Rapgef6	UTSW	11	54,582,134 (GRCm39)	missense	probably damaging	0.97
R4823:Rapgef6	UTSW	11	54,585,326 (GRCm39)	missense	probably benign	0.08
R4859:Rapgef6	UTSW	11	54,526,989 (GRCm39)	missense	probably benign
R4906:Rapgef6	UTSW	11	54,443,662 (GRCm39)	missense	probably damaging	1.00
R4911:Rapgef6	UTSW	11	54,513,143 (GRCm39)	missense	probably damaging	0.97
R4937:Rapgef6	UTSW	11	54,548,143 (GRCm39)	missense	probably damaging	1.00
R5033:Rapgef6	UTSW	11	54,582,207 (GRCm39)	missense	possibly damaging	0.92
R5249:Rapgef6	UTSW	11	54,413,943 (GRCm39)	missense	probably benign	0.19
R5304:Rapgef6	UTSW	11	54,548,200 (GRCm39)	missense	probably benign	0.01
R5656:Rapgef6	UTSW	11	54,526,962 (GRCm39)	missense	possibly damaging	0.95
R5701:Rapgef6	UTSW	11	54,567,220 (GRCm39)	missense	possibly damaging	0.76
R5758:Rapgef6	UTSW	11	54,559,470 (GRCm39)	missense	probably damaging	1.00
R5973:Rapgef6	UTSW	11	54,530,609 (GRCm39)	missense	probably damaging	1.00
R6177:Rapgef6	UTSW	11	54,510,842 (GRCm39)	missense	probably damaging	1.00
R6268:Rapgef6	UTSW	11	54,540,073 (GRCm39)	missense	probably damaging	1.00
R6287:Rapgef6	UTSW	11	54,517,164 (GRCm39)	splice site	probably null
R6293:Rapgef6	UTSW	11	54,525,607 (GRCm39)	missense	probably damaging	1.00
R6471:Rapgef6	UTSW	11	54,582,563 (GRCm39)	missense	probably damaging	0.99
R6863:Rapgef6	UTSW	11	54,437,206 (GRCm39)	missense	probably benign	0.00
R6950:Rapgef6	UTSW	11	54,567,206 (GRCm39)	missense	probably benign	0.09
R7144:Rapgef6	UTSW	11	54,548,191 (GRCm39)	missense	possibly damaging	0.78
R7171:Rapgef6	UTSW	11	54,567,189 (GRCm39)	missense	possibly damaging	0.94
R7199:Rapgef6	UTSW	11	54,437,252 (GRCm39)	missense	probably benign	0.00
R7291:Rapgef6	UTSW	11	54,582,065 (GRCm39)	missense	probably benign	0.05
R7436:Rapgef6	UTSW	11	54,501,747 (GRCm39)	critical splice donor site	probably null
R7498:Rapgef6	UTSW	11	54,510,830 (GRCm39)	missense	probably damaging	1.00
R7506:Rapgef6	UTSW	11	54,526,997 (GRCm39)	missense	probably benign	0.00
R7527:Rapgef6	UTSW	11	54,525,787 (GRCm39)	missense	unknown
R7646:Rapgef6	UTSW	11	54,516,780 (GRCm39)	missense	probably benign	0.00
R7655:Rapgef6	UTSW	11	54,585,279 (GRCm39)	missense	probably benign	0.10
R7656:Rapgef6	UTSW	11	54,585,279 (GRCm39)	missense	probably benign	0.10
R7687:Rapgef6	UTSW	11	54,551,901 (GRCm39)	missense	possibly damaging	0.93
R7768:Rapgef6	UTSW	11	54,517,414 (GRCm39)	missense	probably damaging	1.00
R7788:Rapgef6	UTSW	11	54,585,225 (GRCm39)	missense	probably damaging	1.00
R7890:Rapgef6	UTSW	11	54,517,549 (GRCm39)	missense	probably damaging	1.00
R8113:Rapgef6	UTSW	11	54,516,784 (GRCm39)	missense	probably benign	0.03
R8337:Rapgef6	UTSW	11	54,522,127 (GRCm39)	nonsense	probably null
R8393:Rapgef6	UTSW	11	54,578,487 (GRCm39)	missense	probably benign
R8465:Rapgef6	UTSW	11	54,582,308 (GRCm39)	missense	probably benign	0.00
R8492:Rapgef6	UTSW	11	54,581,063 (GRCm39)	missense	probably damaging	0.99
R8791:Rapgef6	UTSW	11	54,459,295 (GRCm39)	missense	probably benign	0.15
R8866:Rapgef6	UTSW	11	54,443,700 (GRCm39)	critical splice donor site	probably null
R8917:Rapgef6	UTSW	11	54,582,392 (GRCm39)	nonsense	probably null
R8921:Rapgef6	UTSW	11	54,570,065 (GRCm39)	missense	probably benign	0.09
R9031:Rapgef6	UTSW	11	54,578,667 (GRCm39)	missense	probably benign	0.00
R9093:Rapgef6	UTSW	11	54,487,912 (GRCm39)	nonsense	probably null
R9354:Rapgef6	UTSW	11	54,510,749 (GRCm39)	missense	possibly damaging	0.66
R9514:Rapgef6	UTSW	11	54,443,684 (GRCm39)	missense	probably benign	0.14
R9516:Rapgef6	UTSW	11	54,582,169 (GRCm39)	missense	probably damaging	1.00
R9739:Rapgef6	UTSW	11	54,513,189 (GRCm39)	missense	probably benign	0.03
R9789:Rapgef6	UTSW	11	54,540,097 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAGCCTCAATCCACCTGCATATGG -3'
(R):5'- AAGCCAGTGTCTTTAGCAACAGTAGTC -3'

Sequencing Primer
(F):5'- CAGGCATAGGCCACTATGACTG -3'
(R):5'- GCACGAAACTGTTTCCTATGT -3'

Posted On

2014-04-24