Mutagenetix > Incidental Mutation

Incidental Mutation 'R4763:Arhgap44'

357044

Institutional Source

Beutler Lab

Gene Symbol

Arhgap44

Ensembl Gene

ENSMUSG00000033389

Gene Name

Rho GTPase activating protein 44

Synonyms

AU040829

MMRRC Submission

042404-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64892865-65053779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64929991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 240 (I240T)

Ref Sequence

ENSEMBL: ENSMUSP00000090681 (fasta)

Gene Model

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

AlphaFold

Q5SSM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047463
AA Change: I240T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: I240T

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

probably damaging
Transcript: ENSMUST00000093002
AA Change: I240T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: I240T

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: I114T

SMART Domains

Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: I114T

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

0.2650

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	G	9: 98,069,176 (GRCm39)		noncoding transcript	Het
Abhd2	A	G	7: 79,009,879 (GRCm39)	E418G	probably benign	Het
Acox2	G	T	14: 8,241,334 (GRCm38)	H593N	possibly damaging	Het
Adam17	A	G	12: 21,384,016 (GRCm39)	Y495H	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp2c1	T	C	9: 105,295,766 (GRCm39)	T653A	probably damaging	Het
Atxn7l1	G	A	12: 33,408,877 (GRCm39)		probably benign	Het
Cacng8	T	C	7: 3,463,508 (GRCm39)	V220A	probably damaging	Het
Card14	A	T	11: 119,234,001 (GRCm39)	S864C	probably damaging	Het
Cfap58	C	T	19: 47,971,945 (GRCm39)	A625V	probably damaging	Het
Cfap61	T	C	2: 145,859,287 (GRCm39)	V425A	probably benign	Het
Cfap73	A	G	5: 120,768,294 (GRCm39)	F155L	probably damaging	Het
Cntrl	G	T	2: 35,065,563 (GRCm39)	R2235L	probably damaging	Het
Cxxc1	A	G	18: 74,352,484 (GRCm39)	K355E	probably damaging	Het
Disc1	G	A	8: 125,851,277 (GRCm39)	G387D	probably damaging	Het
Dpf2	T	C	19: 5,952,480 (GRCm39)	Y286C	probably damaging	Het
E2f7	A	T	10: 110,616,710 (GRCm39)	K650M	probably damaging	Het
Fbln2	C	T	6: 91,246,982 (GRCm39)	S1027F	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gm6811	A	G	17: 21,314,109 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,284,818 (GRCm39)	K409E	probably damaging	Het
Hamp	T	A	7: 30,641,989 (GRCm39)	R55S	probably damaging	Het
Heatr1	C	T	13: 12,445,811 (GRCm39)	T1596I	possibly damaging	Het
Hells	T	C	19: 38,945,643 (GRCm39)	V601A	probably damaging	Het
Ighv5-8	A	G	12: 113,617,161 (GRCm39)	S34P	probably damaging	Het
Lig4	T	C	8: 10,022,955 (GRCm39)	D275G	probably damaging	Het
Meak7	A	G	8: 120,495,122 (GRCm39)	V212A	probably benign	Het
Med6	T	C	12: 81,629,435 (GRCm39)	D59G	probably damaging	Het
Men1	T	C	19: 6,385,102 (GRCm39)		probably null	Het
Mlec	G	A	5: 115,295,972 (GRCm39)	A41V	unknown	Het
Ncoa1	G	A	12: 4,325,297 (GRCm39)	T927I	probably damaging	Het
Neb	T	A	2: 52,216,732 (GRCm39)	K148*	probably null	Het
Neb	T	A	2: 52,127,052 (GRCm39)	K378*	probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or4k41	T	A	2: 111,280,023 (GRCm39)	C179*	probably null	Het
Or5p73	G	A	7: 108,065,393 (GRCm39)	M287I	probably benign	Het
Or8g26	A	G	9: 39,096,256 (GRCm39)	T261A	probably benign	Het
Parp10	C	T	15: 76,117,627 (GRCm39)	V920M	probably damaging	Het
Parp6	C	A	9: 59,538,648 (GRCm39)	P241H	probably damaging	Het
Pcyox1l	A	G	18: 61,830,850 (GRCm39)	Y341H	probably benign	Het
Pfas	A	T	11: 68,881,020 (GRCm39)	D1080E	possibly damaging	Het
Pi4kb	G	T	3: 94,911,720 (GRCm39)		probably benign	Het
Piwil2	C	T	14: 70,614,227 (GRCm39)	V846M	probably damaging	Het
Pkd1l2	A	G	8: 117,746,168 (GRCm39)	F1941L	probably damaging	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Ppp4r1	T	C	17: 66,142,105 (GRCm39)	I720T	possibly damaging	Het
Prr12	A	G	7: 44,697,119 (GRCm39)	L932S	unknown	Het
Rnaseh2a	T	A	8: 85,692,021 (GRCm39)	E84V	probably benign	Het
Rpl18a	G	A	8: 71,348,330 (GRCm39)	R118C	probably benign	Het
Rprm	C	A	2: 53,975,228 (GRCm39)	C30F	possibly damaging	Het
Sbf2	G	T	7: 110,020,124 (GRCm39)	L579I	probably damaging	Het
Sfn	C	A	4: 133,328,656 (GRCm39)	R142L	probably benign	Het
St8sia6	T	C	2: 13,677,341 (GRCm39)	K159E	probably damaging	Het
Sugct	A	T	13: 17,837,372 (GRCm39)	F86L	probably damaging	Het
Tmcc3	T	C	10: 94,415,173 (GRCm39)	S292P	probably damaging	Het
Tmem33	A	T	5: 67,443,479 (GRCm39)	I219F	probably benign	Het
Trav8-1	C	A	14: 53,707,492 (GRCm39)	T44K	possibly damaging	Het
U2surp	A	G	9: 95,393,844 (GRCm39)		probably benign	Het
Use1	T	C	8: 71,819,952 (GRCm39)	L25P	probably damaging	Het
Vmn1r221	G	T	13: 23,401,958 (GRCm39)		noncoding transcript	Het
Vmn1r50	C	T	6: 90,085,062 (GRCm39)	T269I	probably benign	Het
Washc3	A	G	10: 88,055,185 (GRCm39)	D125G	probably damaging	Het
Zfp142	G	A	1: 74,615,671 (GRCm39)	H278Y	probably damaging	Het
Zfp418	A	G	7: 7,184,444 (GRCm39)	N136D	possibly 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
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
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'- AGGGATGAGCTCAGCTTTGG -3'
(R):5'- CTTTTCCATACTGGCTGAAGC -3'

Sequencing Primer
(F):5'- AGCTCAGCTTTGGGTCAC -3'
(R):5'- TTCCATACTGGCTGAAGCACTGG -3'

Posted On

2015-11-11