Mutagenetix > Incidental Mutation

Incidental Mutation 'R9296:Arhgap44'

723580

Institutional Source

Beutler Lab

Gene Symbol

Arhgap44

Ensembl Gene

ENSMUSG00000033389

Gene Name

Rho GTPase activating protein 44

Synonyms

AU040829

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9296 (G1)

Quality Score

67.0074

Status

Validated

Chromosome

Chromosomal Location

64892865-65053779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64957933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 83 (A83E)

Ref Sequence

ENSEMBL: ENSMUSP00000039139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047463] [ENSMUST00000093001] [ENSMUST00000093002]

AlphaFold

Q5SSM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047463
AA Change: A83E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: A83E

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	530	556	N/A	INTRINSIC
low complexity region	561	575	N/A	INTRINSIC
low complexity region	592	606	N/A	INTRINSIC
low complexity region	616	631	N/A	INTRINSIC
low complexity region	664	689	N/A	INTRINSIC
low complexity region	695	707	N/A	INTRINSIC
low complexity region	716	746	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093001
AA Change: A84E

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090680
Gene: ENSMUSG00000033389
AA Change: A84E

Domain	Start	End	E-Value	Type
BAR	5	210	8.8e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093002
AA Change: A83E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: A83E

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	536	562	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	598	612	N/A	INTRINSIC
low complexity region	622	637	N/A	INTRINSIC
low complexity region	670	695	N/A	INTRINSIC
low complexity region	701	713	N/A	INTRINSIC
low complexity region	722	752	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	T	G	6: 87,114,409 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,124,612 (GRCm39)	Y951F	probably damaging	Het
Bmpr2	T	C	1: 59,906,502 (GRCm39)	S532P	probably damaging	Het
Brd7	T	C	8: 89,059,560 (GRCm39)	I617V	possibly damaging	Het
Brsk2	A	C	7: 141,552,375 (GRCm39)	S620R	probably benign	Het
C3	T	C	17: 57,511,291 (GRCm39)	M1604V	probably benign	Het
Cacna2d1	G	A	5: 16,564,068 (GRCm39)	R917H	probably damaging	Het
Ccdc17	T	A	4: 116,456,586 (GRCm39)	F452I	probably damaging	Het
Cfap221	T	C	1: 119,883,467 (GRCm39)	I235V	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Ciita	G	A	16: 10,321,812 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,495,997 (GRCm39)	K47E	probably damaging	Het
Cyp2d12	C	T	15: 82,440,435 (GRCm39)	Q75*	probably null	Het
Cyp4f18	C	T	8: 72,756,301 (GRCm39)	V92M	probably benign	Het
D930020B18Rik	A	G	10: 121,497,011 (GRCm39)	R149G	possibly damaging	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dmtf1	A	C	5: 9,190,467 (GRCm39)	D82E	probably benign	Het
Dnah1	T	C	14: 30,996,011 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,173,089 (GRCm39)	D183E	possibly damaging	Het
Fbln5	A	T	12: 101,780,853 (GRCm39)	I7K	probably benign	Het
Fermt3	C	T	19: 6,980,865 (GRCm39)	E289K	possibly damaging	Het
Gm10762	T	A	2: 128,809,149 (GRCm39)	R67W	unknown	Het
Gm5089	A	G	14: 122,673,554 (GRCm39)	S56P	unknown	Het
H2-T5	C	T	17: 36,479,169 (GRCm39)	G27R	unknown	Het
Itih1	A	G	14: 30,653,251 (GRCm39)	F730L	probably benign	Het
Macf1	T	C	4: 123,400,246 (GRCm39)	H683R	probably damaging	Het
Mapk3	T	A	7: 126,363,518 (GRCm39)	F297L		Het
Mfap3l	G	A	8: 61,124,615 (GRCm39)	V286I	possibly damaging	Het
Myh4	A	G	11: 67,146,130 (GRCm39)	K1396R	possibly damaging	Het
Mylk3	A	T	8: 86,085,561 (GRCm39)	S324R	probably benign	Het
Ndufv3	T	C	17: 31,739,197 (GRCm39)	S4P	probably benign	Het
Nebl	A	T	2: 17,429,451 (GRCm39)		probably benign	Het
Nol4	A	T	18: 22,956,388 (GRCm39)	S119T		Het
Or6k4	A	T	1: 173,964,835 (GRCm39)	H175L	probably benign	Het
Pcdhgb4	T	A	18: 37,853,777 (GRCm39)	S57R	probably benign	Het
Pcyox1	A	G	6: 86,368,735 (GRCm39)	L261P	probably damaging	Het
Plekhm3	G	T	1: 64,961,639 (GRCm39)	H206N	probably benign	Het
Polr2a	T	C	11: 69,625,562 (GRCm39)	T1863A	probably benign	Het
Prl7c1	T	A	13: 27,962,812 (GRCm39)	I64L	probably benign	Het
Psg17	A	T	7: 18,553,991 (GRCm39)	N86K	probably benign	Het
Rab37	A	G	11: 115,045,065 (GRCm39)	E14G	probably benign	Het
Rad54l2	T	A	9: 106,579,942 (GRCm39)	K976N	probably damaging	Het
Rnf213	A	T	11: 119,334,621 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,472,062 (GRCm39)	D602E	probably damaging	Het
Slc22a30	T	A	19: 8,364,119 (GRCm39)	T186S	probably benign	Het
Slc22a4	A	T	11: 53,888,217 (GRCm39)	C270*	probably null	Het
Slc6a4	T	C	11: 76,909,110 (GRCm39)	V374A	probably benign	Het
Spg11	T	C	2: 121,945,175 (GRCm39)	D115G	probably benign	Het
Susd1	T	C	4: 59,427,865 (GRCm39)		probably benign	Het
Tor1a	A	T	2: 30,851,104 (GRCm39)	M286K	probably damaging	Het
Trim12c	G	T	7: 103,994,185 (GRCm39)	A223D		Het
Usp32	A	G	11: 84,908,478 (GRCm39)	I1076T	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r101	G	A	17: 19,810,047 (GRCm39)	D278N	probably damaging	Het
Zan	C	T	5: 137,387,138 (GRCm39)	V4972I	unknown	Het

Other mutations in Arhgap44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Arhgap44	APN	11	64,932,275 (GRCm39)	missense	probably damaging	0.96
IGL01553:Arhgap44	APN	11	64,943,944 (GRCm39)	missense	probably damaging	1.00
IGL01868:Arhgap44	APN	11	64,902,904 (GRCm39)	missense	probably damaging	1.00
IGL01996:Arhgap44	APN	11	64,896,322 (GRCm39)	utr 3 prime	probably benign
IGL02093:Arhgap44	APN	11	64,965,360 (GRCm39)	missense	probably damaging	1.00
IGL02962:Arhgap44	APN	11	64,957,987 (GRCm39)	splice site	probably benign
IGL02963:Arhgap44	APN	11	64,922,489 (GRCm39)	missense	probably damaging	1.00
IGL03032:Arhgap44	APN	11	64,915,038 (GRCm39)	missense	probably damaging	1.00
R0071:Arhgap44	UTSW	11	64,902,721 (GRCm39)	missense	possibly damaging	0.90
R0152:Arhgap44	UTSW	11	64,902,745 (GRCm39)	missense	probably benign	0.13
R0402:Arhgap44	UTSW	11	64,922,903 (GRCm39)	splice site	probably benign
R1109:Arhgap44	UTSW	11	64,917,642 (GRCm39)	missense	probably benign	0.00
R1694:Arhgap44	UTSW	11	64,944,023 (GRCm39)	missense	probably damaging	1.00
R1946:Arhgap44	UTSW	11	64,902,922 (GRCm39)	missense	probably damaging	0.99
R2036:Arhgap44	UTSW	11	64,932,318 (GRCm39)	missense	possibly damaging	0.83
R2356:Arhgap44	UTSW	11	64,900,851 (GRCm39)	missense	probably damaging	1.00
R4342:Arhgap44	UTSW	11	64,902,887 (GRCm39)	nonsense	probably null
R4657:Arhgap44	UTSW	11	64,896,278 (GRCm39)	critical splice donor site	probably null
R4763:Arhgap44	UTSW	11	64,929,991 (GRCm39)	missense	probably damaging	0.98
R4803:Arhgap44	UTSW	11	64,943,921 (GRCm39)	missense	probably benign	0.00
R5652:Arhgap44	UTSW	11	64,915,064 (GRCm39)	missense	probably damaging	1.00
R5663:Arhgap44	UTSW	11	64,915,117 (GRCm39)	missense	probably damaging	1.00
R5833:Arhgap44	UTSW	11	64,929,503 (GRCm39)	missense	probably damaging	1.00
R6000:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6001:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6046:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6066:Arhgap44	UTSW	11	64,922,910 (GRCm39)	frame shift	probably null
R6160:Arhgap44	UTSW	11	65,053,375 (GRCm39)	unclassified	probably benign
R6661:Arhgap44	UTSW	11	64,900,834 (GRCm39)	missense	probably damaging	0.97
R7062:Arhgap44	UTSW	11	64,902,758 (GRCm39)	missense	probably benign	0.25
R7388:Arhgap44	UTSW	11	64,915,094 (GRCm39)	nonsense	probably null
R7793:Arhgap44	UTSW	11	64,900,750 (GRCm39)	missense	probably damaging	0.99
R8190:Arhgap44	UTSW	11	64,929,479 (GRCm39)	missense	probably damaging	1.00
R8270:Arhgap44	UTSW	11	64,912,860 (GRCm39)	missense	possibly damaging	0.58
R8321:Arhgap44	UTSW	11	64,899,053 (GRCm39)	missense	probably benign	0.00
R8369:Arhgap44	UTSW	11	64,950,680 (GRCm39)	missense	probably damaging	1.00
R8876:Arhgap44	UTSW	11	64,898,896 (GRCm39)	missense	possibly damaging	0.93
R9344:Arhgap44	UTSW	11	65,053,463 (GRCm39)	start codon destroyed	probably null	0.04
R9428:Arhgap44	UTSW	11	64,899,168 (GRCm39)	missense	probably damaging	1.00
X0022:Arhgap44	UTSW	11	64,944,038 (GRCm39)	missense	probably damaging	1.00
X0061:Arhgap44	UTSW	11	64,929,471 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACCCAGAACTCGATTGC -3'
(R):5'- AGATTAAACATGTTCTGAAGTTAGCT -3'

Sequencing Primer
(F):5'- CAGTACTCTGATAGCTGGACCTTG -3'
(R):5'- GTTCTGAAGTTAGCTTATTCCACAG -3'

Posted On

2022-08-31