Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02243:Rapgef6'

286072

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rapgef6

Ensembl Gene

ENSMUSG00000037533

Gene Name

Rap guanine nucleotide exchange factor (GEF) 6

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02243

Quality Score

Status

Chromosome

Chromosomal Location

54413673-54590111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54567226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1136 (P1136S)

Ref Sequence

ENSEMBL: ENSMUSP00000099804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094536] [ENSMUST00000101206] [ENSMUST00000102743] [ENSMUST00000108894] [ENSMUST00000207429]

AlphaFold

Q5NCJ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094536
AA Change: P851S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092114
Gene: ENSMUSG00000037533
AA Change: P851S

Domain	Start	End	E-Value	Type
cNMP	1	113	6.64e-7	SMART
RasGEFN	127	240	4.35e-33	SMART
PDZ	255	327	8.86e-16	SMART
low complexity region	409	420	N/A	INTRINSIC
RA	464	550	1.47e-20	SMART
RasGEF	571	853	3.88e-84	SMART
low complexity region	944	957	N/A	INTRINSIC
low complexity region	972	989	N/A	INTRINSIC
low complexity region	1016	1061	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101206
AA Change: P1144S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533
AA Change: P1144S

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 damaging
Transcript: ENSMUST00000102743
AA Change: P1136S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533
AA Change: P1136S

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

possibly damaging
Transcript: ENSMUST00000108894
AA Change: P859S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104522
Gene: ENSMUSG00000037533
AA Change: P859S

Domain	Start	End	E-Value	Type
cNMP	1	113	6.64e-7	SMART
RasGEFN	127	240	4.35e-33	SMART
PDZ	255	327	8.86e-16	SMART
low complexity region	409	420	N/A	INTRINSIC
RA	464	550	1.47e-20	SMART
RasGEF	571	810	5.35e-87	SMART
low complexity region	952	965	N/A	INTRINSIC
low complexity region	980	997	N/A	INTRINSIC
low complexity region	1024	1069	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207429
AA Change: P1141S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	A	G	10: 80,138,175 (GRCm39)	Y87C	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Brsk2	T	C	7: 141,547,036 (GRCm39)	F493S	probably damaging	Het
Cd19	T	C	7: 126,009,965 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,162,142 (GRCm39)		probably benign	Het
Chd2	T	C	7: 73,147,456 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ddx19a	T	G	8: 111,703,088 (GRCm39)	I450L	probably benign	Het
Edn2	G	A	4: 120,019,229 (GRCm39)		probably null	Het
Elp2	G	A	18: 24,755,663 (GRCm39)	R470Q	probably benign	Het
Fhdc1	T	G	3: 84,381,947 (GRCm39)	M1L	possibly damaging	Het
Gba2	A	T	4: 43,568,719 (GRCm39)	I619N	probably benign	Het
Glce	A	G	9: 61,977,422 (GRCm39)	F154S	probably damaging	Het
Gm3476	A	T	14: 6,122,811 (GRCm38)	C195*	probably null	Het
Hsp90aa1	A	G	12: 110,661,525 (GRCm39)	S164P	probably damaging	Het
Iqcg	T	C	16: 32,865,962 (GRCm39)	D127G	probably damaging	Het
Jag2	G	A	12: 112,879,965 (GRCm39)	T381I	possibly damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lhx2	T	A	2: 38,243,531 (GRCm39)		probably benign	Het
Lrrc2	A	T	9: 110,799,125 (GRCm39)	N158I	probably damaging	Het
M1ap	C	T	6: 83,003,269 (GRCm39)	P389S	probably damaging	Het
Masp2	A	T	4: 148,687,525 (GRCm39)	D104V	probably benign	Het
Met	G	A	6: 17,549,093 (GRCm39)	V982I	probably damaging	Het
Msh2	T	A	17: 87,985,796 (GRCm39)		probably benign	Het
Myh9	A	G	15: 77,651,682 (GRCm39)	L1509P	probably damaging	Het
Mylk2	A	G	2: 152,762,473 (GRCm39)	H554R	probably damaging	Het
Oxr1	T	G	15: 41,399,097 (GRCm39)		probably benign	Het
Pdp1	A	T	4: 11,961,873 (GRCm39)	V146D	probably benign	Het
Pdzrn4	A	T	15: 92,668,577 (GRCm39)	M910L	probably benign	Het
Prl2a1	T	C	13: 27,991,400 (GRCm39)		probably benign	Het
Rasgef1c	A	T	11: 49,848,217 (GRCm39)	S69C	possibly damaging	Het
Rnaseh1	C	T	12: 28,705,631 (GRCm39)	R152W	probably damaging	Het
Sele	T	C	1: 163,880,537 (GRCm39)	V373A	probably benign	Het
Tmem67	G	A	4: 12,070,584 (GRCm39)	S314L	possibly damaging	Het
Traf4	T	C	11: 78,051,343 (GRCm39)	E271G	probably benign	Het
Trim39	T	C	17: 36,571,276 (GRCm39)	D494G	probably damaging	Het
Virma	G	A	4: 11,546,031 (GRCm39)	R1673Q	probably 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
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
R1593:Rapgef6	UTSW	11	54,437,223 (GRCm39)	frame shift	probably null
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

Posted On

2015-04-16