Mutagenetix > Incidental Mutation

Incidental Mutation 'R2036:Arhgap44'

224673

Institutional Source

Beutler Lab

Gene Symbol

Arhgap44

Ensembl Gene

ENSMUSG00000033389

Gene Name

Rho GTPase activating protein 44

Synonyms

AU040829

MMRRC Submission

040043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64892865-65053779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64932318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 201 (M201V)

Ref Sequence

ENSEMBL: ENSMUSP00000090681 (fasta)

Gene Model

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

AlphaFold

Q5SSM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047463
AA Change: M201V

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: M201V

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: ENSMUST00000093002
AA Change: M201V

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: M201V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119723

Predicted Effect

unknown
Transcript: ENSMUST00000130420
AA Change: M75V

SMART Domains

Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: M75V

Domain	Start	End	E-Value	Type
Pfam:BAR	1	117	1.1e-29	PFAM
RhoGAP	141	317	1.07e-66	SMART
low complexity region	411	437	N/A	INTRINSIC
low complexity region	442	456	N/A	INTRINSIC
low complexity region	473	487	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC
low complexity region	545	570	N/A	INTRINSIC
low complexity region	576	588	N/A	INTRINSIC
low complexity region	597	627	N/A	INTRINSIC

Meta Mutation Damage Score

0.8357

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415H17Rik	C	T	11: 99,576,358 (GRCm39)	C3Y	unknown	Het
Abr	G	T	11: 76,343,176 (GRCm39)	T547K	probably benign	Het
Akr1c21	T	C	13: 4,626,305 (GRCm39)	Y110H	probably damaging	Het
Ankar	T	A	1: 72,705,689 (GRCm39)	K556*	probably null	Het
Anks1b	T	C	10: 90,805,715 (GRCm39)	V431A	probably damaging	Het
Ap5b1	T	C	19: 5,618,897 (GRCm39)	S106P	possibly damaging	Het
Arhgap17	T	C	7: 122,917,717 (GRCm39)	N156D	possibly damaging	Het
Arhgap35	T	C	7: 16,297,058 (GRCm39)	E669G	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	C	T	4: 99,106,376 (GRCm39)	T112M	possibly damaging	Het
Bcl11a	A	T	11: 24,114,087 (GRCm39)	N477Y	possibly damaging	Het
Brinp3	A	T	1: 146,577,579 (GRCm39)	I205F	possibly damaging	Het
Capza2	T	C	6: 17,660,777 (GRCm39)	F159S	probably damaging	Het
Cd40	T	C	2: 164,904,221 (GRCm39)	C61R	probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdh23	A	G	10: 60,301,822 (GRCm39)	I415T	possibly damaging	Het
Clnk	A	T	5: 38,910,143 (GRCm39)		probably null	Het
Ctcfl	C	T	2: 172,943,778 (GRCm39)	R524Q	possibly damaging	Het
Cyb5r4	T	G	9: 86,924,932 (GRCm39)		probably benign	Het
Ddb1	T	A	19: 10,588,186 (GRCm39)		probably benign	Het
Ddx51	C	A	5: 110,804,491 (GRCm39)	Q526K	probably benign	Het
Dennd6a	A	T	14: 26,329,274 (GRCm39)	Q56L	probably damaging	Het
Dhdds	T	C	4: 133,698,410 (GRCm39)	E142G	probably damaging	Het
Dnai1	A	G	4: 41,632,225 (GRCm39)	H553R	probably damaging	Het
Fryl	T	C	5: 73,179,887 (GRCm39)	N2908S	probably benign	Het
Fryl	C	A	5: 73,265,305 (GRCm39)		probably null	Het
Fut9	A	G	4: 25,620,322 (GRCm39)	I164T	probably damaging	Het
Gba2	G	A	4: 43,568,118 (GRCm39)		probably benign	Het
Gm11627	C	T	11: 102,467,580 (GRCm39)	V33I	unknown	Het
Helz2	T	A	2: 180,879,272 (GRCm39)	H782L	probably benign	Het
Kcnmb3	A	G	3: 32,526,531 (GRCm39)	V220A	probably damaging	Het
Kif20a	T	C	18: 34,761,515 (GRCm39)	S303P	possibly damaging	Het
Kif22	A	T	7: 126,630,126 (GRCm39)	V470E	possibly damaging	Het
Majin	C	T	19: 6,263,342 (GRCm39)	T132M	probably benign	Het
Mboat7	A	G	7: 3,688,671 (GRCm39)		probably null	Het
Mkrn2	C	A	6: 115,588,875 (GRCm39)	P206Q	probably benign	Het
Mphosph9	G	A	5: 124,442,274 (GRCm39)	T358M	probably damaging	Het
Nkd1	A	G	8: 89,318,305 (GRCm39)	D210G	probably damaging	Het
Or4c110	C	T	2: 88,831,976 (GRCm39)	V219I	probably damaging	Het
Or4k41	T	A	2: 111,279,971 (GRCm39)	L162Q	possibly damaging	Het
Or5ae2	G	T	7: 84,505,566 (GRCm39)		probably benign	Het
Or5b95	G	C	19: 12,658,165 (GRCm39)	G231A	probably damaging	Het
Or5p69	T	A	7: 107,966,947 (GRCm39)	N83K	probably benign	Het
Or6c35	G	A	10: 129,169,541 (GRCm39)	D264N	probably benign	Het
Or9s15	A	T	1: 92,524,328 (GRCm39)	E29V	probably benign	Het
Pi4ka	A	G	16: 17,120,976 (GRCm39)	Y63H	probably damaging	Het
Plekha1	A	G	7: 130,503,922 (GRCm39)	R210G	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,748 (GRCm39)	T369I	possibly damaging	Het
Relch	A	G	1: 105,670,979 (GRCm39)	D1029G	probably damaging	Het
Rmnd1	T	C	10: 4,357,884 (GRCm39)	D12G	probably damaging	Het
Rtn2	A	G	7: 19,027,664 (GRCm39)	K120E	probably damaging	Het
Sh3tc1	A	G	5: 35,873,508 (GRCm39)	S30P	probably benign	Het
Tln2	T	C	9: 67,179,986 (GRCm39)	E795G	possibly damaging	Het
Tmprss11d	T	A	5: 86,457,128 (GRCm39)	Y177F	probably damaging	Het
Trrap	C	A	5: 144,765,372 (GRCm39)	D2529E	probably benign	Het
Vmn2r58	A	G	7: 41,513,417 (GRCm39)	Y409H	probably benign	Het
Wdr72	T	A	9: 74,058,876 (GRCm39)	V323D	probably damaging	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
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
R9296:Arhgap44	UTSW	11	64,957,933 (GRCm39)	missense	probably damaging	0.99
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'- ACTGATGCTTTCACGCACTC -3'
(R):5'- AAGCTCTGGGAAACTGCTAGTATG -3'

Sequencing Primer
(F):5'- TGATGCTTTCACGCACTCAGAAG -3'
(R):5'- CTTTCTAGATCCATGGTTGAGAGAC -3'

Posted On

2014-08-25