Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Arhgef16'

579019

Institutional Source

Beutler Lab

Gene Symbol

Arhgef16

Ensembl Gene

ENSMUSG00000029032

Gene Name

Rho guanine nucleotide exchange factor 16

Synonyms

Neuroblastoma

MMRRC Submission

045543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154362926-154384535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 154375763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 77 (T77M)

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: T77M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030898
Gene: ENSMUSG00000029032
AA Change: T77M

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 damaging
Transcript: ENSMUST00000152947
AA Change: T77M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119398
Gene: ENSMUSG00000029032
AA Change: T77M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154895
AA Change: T77M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121273
Gene: ENSMUSG00000029032
AA Change: T77M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169623
AA Change: T77M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126296
Gene: ENSMUSG00000029032
AA Change: T77M

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,259,014 (GRCm39)	L443P	probably damaging	Het
Abtb2	T	C	2: 103,397,292 (GRCm39)	V74A	probably benign	Het
Adam5	A	T	8: 25,305,541 (GRCm39)	F66I	probably benign	Het
Aff1	T	A	5: 103,981,413 (GRCm39)	D517E	probably benign	Het
Agbl3	A	G	6: 34,791,349 (GRCm39)	K559R	probably damaging	Het
Aldh1l2	A	C	10: 83,343,969 (GRCm39)	V482G	probably damaging	Het
Ankra2	C	T	13: 98,402,882 (GRCm39)	A43V	probably benign	Het
Ankrd50	C	A	3: 38,508,342 (GRCm39)	V419F	probably damaging	Het
Best3	T	C	10: 116,840,290 (GRCm39)	V240A	probably damaging	Het
Btbd7	T	C	12: 102,779,027 (GRCm39)	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,157,550 (GRCm39)	V305E	probably damaging	Het
Cacng8	G	A	7: 3,463,621 (GRCm39)	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,670,696 (GRCm39)	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,556,652 (GRCm39)	V184E	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctdspl2	A	T	2: 121,837,362 (GRCm39)	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,527,468 (GRCm39)	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,172,307 (GRCm39)	F407L	probably damaging	Het
Dcp2	T	C	18: 44,529,019 (GRCm39)	F45L	probably damaging	Het
Dhx34	C	T	7: 15,950,364 (GRCm39)	R268H	probably benign	Het
Dnajc7	A	T	11: 100,482,377 (GRCm39)	M205K	probably benign	Het
Dzip3	C	T	16: 48,765,242 (GRCm39)	V491M	probably benign	Het
Farp1	T	C	14: 121,512,833 (GRCm39)	L777P	probably damaging	Het
Fchsd2	T	G	7: 100,927,863 (GRCm39)		probably null	Het
Fer1l6	A	T	15: 58,462,419 (GRCm39)		probably null	Het
Fhip1a	T	C	3: 85,580,069 (GRCm39)	D712G	probably benign	Het
Fitm2	A	G	2: 163,311,742 (GRCm39)	F157S	probably damaging	Het
Flt1	G	T	5: 147,540,379 (GRCm39)	A770E	probably damaging	Het
Flt3	T	A	5: 147,268,084 (GRCm39)	E967V	probably benign	Het
Foxc1	G	C	13: 31,992,361 (GRCm39)	A391P	unknown	Het
Foxc1	C	T	13: 31,992,362 (GRCm39)	A391V	unknown	Het
Gimap6	T	A	6: 48,679,392 (GRCm39)	T215S	probably benign	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Itpr3	T	C	17: 27,340,028 (GRCm39)	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,380,635 (GRCm39)	Y601H	probably benign	Het
Map4	G	T	9: 109,856,865 (GRCm39)		probably null	Het
Mga	T	C	2: 119,733,527 (GRCm39)	M125T	probably damaging	Het
Mxi1	A	G	19: 53,360,091 (GRCm39)	D271G	probably damaging	Het
Ndst3	T	A	3: 123,465,310 (GRCm39)	T221S	possibly damaging	Het
Neto1	T	A	18: 86,516,813 (GRCm39)	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,161,555 (GRCm39)	E210G	probably damaging	Het
Nos2	G	T	11: 78,843,797 (GRCm39)	V915F	possibly damaging	Het
Nrros	G	A	16: 31,963,030 (GRCm39)	A329V	probably benign	Het
Numb	T	C	12: 83,850,578 (GRCm39)	K211E	probably benign	Het
Nup210	T	A	6: 90,995,874 (GRCm39)	I1671F	probably benign	Het
Or12j3	G	A	7: 139,953,050 (GRCm39)	L158F	possibly damaging	Het
Or4c106	T	A	2: 88,682,847 (GRCm39)	D184E	probably benign	Het
Or4c31	T	A	2: 88,291,691 (GRCm39)	H2Q	probably benign	Het
Pcdh15	A	T	10: 74,481,812 (GRCm39)	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,434,388 (GRCm39)	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,489,011 (GRCm39)	I230F	probably damaging	Het
Peli2	G	A	14: 48,488,015 (GRCm39)	V120I	probably benign	Het
Pramel15	T	A	4: 144,099,673 (GRCm39)	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,321,748 (GRCm39)	M96L	probably benign	Het
Prex2	T	A	1: 11,355,293 (GRCm39)	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,636,392 (GRCm39)	T138A	possibly damaging	Het
Psme4	C	T	11: 30,752,837 (GRCm39)	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,165,530 (GRCm39)		probably null	Het
Rps19	T	A	7: 24,589,190 (GRCm39)	*146K	probably null	Het
Rsu1	T	C	2: 13,082,371 (GRCm39)	N260S	probably benign	Het
Serpina3k	T	C	12: 104,311,594 (GRCm39)	C391R	not run	Het
Sipa1l1	T	G	12: 82,467,438 (GRCm39)		probably null	Het
Snd1	T	A	6: 28,626,126 (GRCm39)	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,374,831 (GRCm39)	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,863,278 (GRCm39)	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,795,146 (GRCm39)	K1535E	probably benign	Het
Srcin1	A	G	11: 97,425,435 (GRCm39)	S541P	probably damaging	Het
Tc2n	A	T	12: 101,631,934 (GRCm39)	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,090,475 (GRCm39)	D857G	probably benign	Het
Timm22	A	G	11: 76,298,134 (GRCm39)	D35G	probably benign	Het
Tram1l1	C	A	3: 124,114,889 (GRCm39)	H16Q	probably benign	Het
Uggt1	T	C	1: 36,190,814 (GRCm39)	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,879,379 (GRCm39)	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072 (GRCm39)	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,375,768 (GRCm39)	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,500,001 (GRCm39)	T196K	possibly damaging	Het
Xpo4	A	T	14: 57,835,436 (GRCm39)	H628Q	probably benign	Het
Zfp780b	C	T	7: 27,663,382 (GRCm39)	S391N	probably benign	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
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
R8993:Arhgef16	UTSW	4	154,371,495 (GRCm39)	missense	probably damaging	1.00
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'- ATGTCATCCAACGAGAAGCTGG -3'
(R):5'- CTGACAGCTCTCTGGATGAG -3'

Sequencing Primer
(F):5'- CTGGGGGCTGAGAAGAGCTG -3'
(R):5'- GAAACTACTGGAGTATCGCTTCC -3'

Posted On

2019-10-07