Mutagenetix > Incidental Mutation

Incidental Mutation 'R8993:Arhgef16'

684530

Institutional Source

Beutler Lab

Gene Symbol

Arhgef16

Ensembl Gene

ENSMUSG00000029032

Gene Name

Rho guanine nucleotide exchange factor 16

Synonyms

Neuroblastoma

MMRRC Submission

068824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154362926-154384535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 154371495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 233 (E233K)

Ref Sequence

ENSEMBL: ENSMUSP00000030898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030898] [ENSMUST00000152947] [ENSMUST00000154895] [ENSMUST00000169623]

AlphaFold

Q3U5C8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030898
AA Change: E233K

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

SMART Domains

Protein: ENSMUSP00000030898
Gene: ENSMUSG00000029032
AA Change: E233K

Domain	Start	End	E-Value	Type
low complexity region	51	72	N/A	INTRINSIC
RhoGEF	292	471	5.9e-52	SMART
PH	506	626	6.46e-8	SMART
SH3	636	692	2.31e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152947

SMART Domains

Protein: ENSMUSP00000119398
Gene: ENSMUSG00000029032

Domain	Start	End	E-Value	Type
low complexity region	51	72	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000154895

SMART Domains

Protein: ENSMUSP00000121273
Gene: ENSMUSG00000029032

Domain	Start	End	E-Value	Type
low complexity region	51	72	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169623
AA Change: E233K

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

SMART Domains

Protein: ENSMUSP00000126296
Gene: ENSMUSG00000029032
AA Change: E233K

Domain	Start	End	E-Value	Type
low complexity region	51	72	N/A	INTRINSIC
RhoGEF	292	471	5.9e-52	SMART
PH	506	626	6.46e-8	SMART
SH3	636	692	2.31e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,841,842 (GRCm39)	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Acaa1a	A	T	9: 119,178,418 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,008,835 (GRCm39)	E864G	probably null	Het
Adcy4	T	C	14: 56,016,156 (GRCm39)	D387G	probably damaging	Het
Ank1	C	T	8: 23,588,955 (GRCm39)	H574Y	probably damaging	Het
Arhgef26	A	T	3: 62,355,525 (GRCm39)	Y699F	probably benign	Het
BB014433	C	T	8: 15,092,101 (GRCm39)	V251M	probably damaging	Het
Bcan	G	A	3: 87,901,529 (GRCm39)	A391V	probably benign	Het
Bod1l	A	C	5: 41,974,210 (GRCm39)	V2368G	probably benign	Het
Braf	A	G	6: 39,639,085 (GRCm39)	V222A	probably damaging	Het
Cd33	G	T	7: 43,182,871 (GRCm39)		probably benign	Het
Cdkl2	T	A	5: 92,170,010 (GRCm39)	K324N	probably damaging	Het
Celf6	A	T	9: 59,510,154 (GRCm39)	T199S	probably damaging	Het
Cmtm4	A	C	8: 105,081,798 (GRCm39)	D196E	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451 (GRCm39)	P921H	unknown	Het
Crmp1	T	C	5: 37,399,490 (GRCm39)	M1T	probably null	Het
Dnah7a	A	T	1: 53,543,262 (GRCm39)	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,551,888 (GRCm39)	T650K	probably benign	Het
Eif1ad15	A	G	12: 88,288,170 (GRCm39)	F28L	probably benign	Het
Fam24a	A	G	7: 130,938,269 (GRCm39)	D53G	probably benign	Het
Foxa2	A	T	2: 147,886,626 (GRCm39)	M69K	probably benign	Het
Gatad2a	T	A	8: 70,362,585 (GRCm39)	H601L	probably damaging	Het
Gimap4	A	C	6: 48,667,539 (GRCm39)	D98A	probably damaging	Het
Gm14295	G	T	2: 176,501,623 (GRCm39)	R371L	possibly damaging	Het
Golim4	G	T	3: 75,785,435 (GRCm39)	A652E	probably benign	Het
Grid1	A	G	14: 34,748,899 (GRCm39)	I240V	probably benign	Het
Iqsec3	T	A	6: 121,390,272 (GRCm39)	T400S	unknown	Het
Itk	G	A	11: 46,225,735 (GRCm39)	R539C	probably damaging	Het
Kif27	T	A	13: 58,473,912 (GRCm39)	D695V	possibly damaging	Het
Krt79	T	C	15: 101,839,441 (GRCm39)		probably benign	Het
Lama2	C	A	10: 27,298,710 (GRCm39)	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,696,392 (GRCm39)	E552D	possibly damaging	Het
Mpp3	A	G	11: 101,891,491 (GRCm39)	I549T	probably benign	Het
Nat1	T	C	8: 67,944,394 (GRCm39)	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,983 (GRCm39)	K69*	probably null	Het
Nlrx1	G	T	9: 44,168,238 (GRCm39)		probably benign	Het
Pde1b	C	A	15: 103,429,852 (GRCm39)	A115E	probably benign	Het
Pde4dip	A	G	3: 97,673,810 (GRCm39)	Y369H	probably damaging	Het
Pnpla7	A	G	2: 24,943,431 (GRCm39)	Y1286C	possibly damaging	Het
Poglut2	G	T	1: 44,151,924 (GRCm39)	L322I	possibly damaging	Het
Pramel5	T	C	4: 143,999,529 (GRCm39)	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,607,386 (GRCm39)	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,357,918 (GRCm39)	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,022,369 (GRCm39)	E568V	probably benign	Het
Slc6a18	T	A	13: 73,816,390 (GRCm39)	I330F	probably benign	Het
Spesp1	T	C	9: 62,180,552 (GRCm39)	T119A	possibly damaging	Het
Sypl1	G	A	12: 33,025,662 (GRCm39)	S242N	probably benign	Het
Tbx18	G	A	9: 87,612,770 (GRCm39)	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,113,956 (GRCm39)	D263V	probably damaging	Het
Trbv21	T	C	6: 41,179,924 (GRCm39)	I80T	probably damaging	Het
Ttc3	T	A	16: 94,228,667 (GRCm39)	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,707,813 (GRCm39)	D498G	possibly damaging	Het
Ttn	T	C	2: 76,583,714 (GRCm39)	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,321,637 (GRCm39)	S388R		Het
Vmn2r118	A	T	17: 55,917,835 (GRCm39)	L226I	possibly damaging	Het
Wdr46	A	G	17: 34,168,156 (GRCm39)	H576R	probably benign	Het
Zfp426	A	G	9: 20,386,296 (GRCm39)	F62L	probably damaging	Het

Other mutations in Arhgef16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Arhgef16	APN	4	154,364,701 (GRCm39)	missense	probably benign	0.01
IGL02422:Arhgef16	APN	4	154,371,522 (GRCm39)	nonsense	probably null
IGL02801:Arhgef16	APN	4	154,375,964 (GRCm39)	missense	probably damaging	0.99
IGL02928:Arhgef16	APN	4	154,367,350 (GRCm39)	missense	probably benign	0.00
R0518:Arhgef16	UTSW	4	154,375,491 (GRCm39)	missense	probably damaging	0.99
R1148:Arhgef16	UTSW	4	154,365,346 (GRCm39)	missense	probably benign	0.05
R1148:Arhgef16	UTSW	4	154,365,346 (GRCm39)	missense	probably benign	0.05
R1576:Arhgef16	UTSW	4	154,375,769 (GRCm39)	missense	probably damaging	1.00
R1778:Arhgef16	UTSW	4	154,372,443 (GRCm39)	missense	probably benign	0.17
R1853:Arhgef16	UTSW	4	154,375,563 (GRCm39)	missense	probably benign	0.14
R1912:Arhgef16	UTSW	4	154,364,780 (GRCm39)	splice site	probably null
R2269:Arhgef16	UTSW	4	154,369,490 (GRCm39)	missense	probably damaging	0.98
R4437:Arhgef16	UTSW	4	154,364,153 (GRCm39)	critical splice donor site	probably null
R4690:Arhgef16	UTSW	4	154,372,420 (GRCm39)	splice site	probably null
R5174:Arhgef16	UTSW	4	154,366,504 (GRCm39)	missense	probably damaging	1.00
R5566:Arhgef16	UTSW	4	154,370,105 (GRCm39)	missense	probably benign	0.01
R6348:Arhgef16	UTSW	4	154,371,540 (GRCm39)	missense	probably benign	0.18
R7264:Arhgef16	UTSW	4	154,365,387 (GRCm39)	missense	probably damaging	1.00
R7469:Arhgef16	UTSW	4	154,375,763 (GRCm39)	missense	probably damaging	1.00
R7626:Arhgef16	UTSW	4	154,367,339 (GRCm39)	missense	possibly damaging	0.89
R7651:Arhgef16	UTSW	4	154,375,524 (GRCm39)	missense	probably damaging	1.00
R7684:Arhgef16	UTSW	4	154,366,285 (GRCm39)	missense	possibly damaging	0.62
R7759:Arhgef16	UTSW	4	154,371,432 (GRCm39)	missense	probably benign	0.00
R8334:Arhgef16	UTSW	4	154,367,224 (GRCm39)	nonsense	probably null
R8995:Arhgef16	UTSW	4	154,371,495 (GRCm39)	missense	probably damaging	1.00
R9141:Arhgef16	UTSW	4	154,366,300 (GRCm39)	missense	probably damaging	1.00
R9256:Arhgef16	UTSW	4	154,363,502 (GRCm39)	nonsense	probably null
R9266:Arhgef16	UTSW	4	154,375,922 (GRCm39)	missense	probably benign	0.14
R9426:Arhgef16	UTSW	4	154,366,300 (GRCm39)	missense	probably damaging	1.00
R9515:Arhgef16	UTSW	4	154,365,432 (GRCm39)	missense	possibly damaging	0.65
R9516:Arhgef16	UTSW	4	154,365,432 (GRCm39)	missense	possibly damaging	0.65
R9784:Arhgef16	UTSW	4	154,371,422 (GRCm39)	missense	probably damaging	1.00
Z1177:Arhgef16	UTSW	4	154,365,910 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGCTCTAAAATCTGTTAAGGGC -3'
(R):5'- TGCTACACTCTTCCAGGCTG -3'

Sequencing Primer
(F):5'- CTCTAAAATCTGTTAAGGGCCTGAGC -3'
(R):5'- ACTCTTCCAGGCTGGCTGTG -3'

Posted On

2021-10-11