Mutagenetix > Incidental Mutation

Incidental Mutation 'R6000:Arhgap44'

480795

Institutional Source

Beutler Lab

Gene Symbol

Arhgap44

Ensembl Gene

ENSMUSG00000033389

Gene Name

Rho GTPase activating protein 44

Synonyms

AU040829

MMRRC Submission

044179-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6000 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

64892865-65053779 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CTGCT to CTGCTTGCT at 64922910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q5SSM3

Predicted Effect

probably null
Transcript: ENSMUST00000047463

SMART Domains

Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389

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 null
Transcript: ENSMUST00000093002

SMART Domains

Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389

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

probably null
Transcript: ENSMUST00000130420

SMART Domains

Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,427 (GRCm39)	C214R	possibly damaging	Het
Ahnak	A	T	19: 8,990,475 (GRCm39)	K3920*	probably null	Het
Alox12b	A	G	11: 69,060,394 (GRCm39)	D650G	probably damaging	Het
Amt	A	T	9: 108,178,684 (GRCm39)	Y400F	probably benign	Het
Ankrd11	A	G	8: 123,617,934 (GRCm39)	S1973P	possibly damaging	Het
Aoc1	A	T	6: 48,884,573 (GRCm39)	T539S	probably benign	Het
Ccdc15	C	T	9: 37,227,060 (GRCm39)	G292S	probably benign	Het
Ccdc162	C	T	10: 41,437,159 (GRCm39)	C287Y	possibly damaging	Het
Ccn6	T	C	10: 39,034,296 (GRCm39)	Y102C	probably damaging	Het
Cdk15	G	A	1: 59,328,818 (GRCm39)	G244D	probably damaging	Het
Cep290	T	A	10: 100,377,649 (GRCm39)	Y1560N	probably damaging	Het
Cfap251	A	G	5: 123,392,435 (GRCm39)		probably benign	Het
Cic	A	C	7: 24,971,423 (GRCm39)	I385L	probably benign	Het
Cobl	A	T	11: 12,319,684 (GRCm39)	F231L	probably benign	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Csnk1g2	T	A	10: 80,474,778 (GRCm39)	V305E	probably damaging	Het
Cyp2c29	A	G	19: 39,296,050 (GRCm39)		probably null	Het
Dner	A	T	1: 84,361,650 (GRCm39)	M653K	possibly damaging	Het
Dst	T	A	1: 34,251,304 (GRCm39)	M4311K	possibly damaging	Het
Ep400	A	G	5: 110,831,067 (GRCm39)	S2200P	unknown	Het
Ephb2	A	T	4: 136,411,341 (GRCm39)	S440T	possibly damaging	Het
Ercc1	A	T	7: 19,081,086 (GRCm39)		probably benign	Het
Folh1	T	A	7: 86,375,142 (GRCm39)	N615Y	probably benign	Het
Gm7298	T	C	6: 121,742,038 (GRCm39)	Y487H	possibly damaging	Het
Gucy1b2	A	T	14: 62,656,499 (GRCm39)	I286N	probably benign	Het
Hr	A	G	14: 70,805,273 (GRCm39)	D1005G	probably damaging	Het
Ifrd1	C	A	12: 40,266,243 (GRCm39)	V117F	possibly damaging	Het
Ift140	A	T	17: 25,255,934 (GRCm39)	T210S	probably benign	Het
Igll1	C	A	16: 16,681,805 (GRCm39)		probably benign	Het
Ino80	G	T	2: 119,204,989 (GRCm39)	S1512R	probably benign	Het
Intu	A	T	3: 40,608,578 (GRCm39)	K197*	probably null	Het
Kdm6b	A	G	11: 69,294,424 (GRCm39)	L1216P	unknown	Het
Klrb1c	T	G	6: 128,761,120 (GRCm39)	D169A	probably damaging	Het
Lamp3	T	A	16: 19,519,698 (GRCm39)	T162S	possibly damaging	Het
Mapk10	G	A	5: 103,114,342 (GRCm39)	P319S	probably damaging	Het
Mapk10	G	A	5: 103,114,341 (GRCm39)	P319L	probably damaging	Het
Mical3	T	C	6: 120,998,281 (GRCm39)	T702A	probably benign	Het
Mstn	C	T	1: 53,100,828 (GRCm39)		probably benign	Het
Nckap1l	T	C	15: 103,387,242 (GRCm39)	S706P	probably benign	Het
Nckap5l	G	A	15: 99,324,766 (GRCm39)	T579I	probably damaging	Het
Or13p3	A	T	4: 118,567,441 (GRCm39)	N279I	probably damaging	Het
Or4a27	C	A	2: 88,559,575 (GRCm39)	A123S	probably damaging	Het
Or8s16	G	A	15: 98,211,317 (GRCm39)	T38I	probably benign	Het
Pcdh18	A	C	3: 49,708,913 (GRCm39)	S801A	probably damaging	Het
Pde11a	A	T	2: 75,848,204 (GRCm39)	D874E	probably damaging	Het
Pfdn6	G	T	17: 34,158,589 (GRCm39)	P62T	probably damaging	Het
Pkd1l1	A	G	11: 8,900,427 (GRCm39)	I38T	probably benign	Het
Prkdc	A	T	16: 15,647,561 (GRCm39)	I3662F	possibly damaging	Het
Psg26	A	T	7: 18,216,617 (GRCm39)	L74*	probably null	Het
Rassf6	A	G	5: 90,751,736 (GRCm39)	V341A	probably damaging	Het
Rsad2	C	A	12: 26,497,150 (GRCm39)		probably null	Het
Rwdd3	A	G	3: 120,950,162 (GRCm39)	Y95H	probably damaging	Het
Scfd1	A	G	12: 51,492,457 (GRCm39)	I589V	possibly damaging	Het
Sgsm1	A	T	5: 113,434,704 (GRCm39)	I131N	probably damaging	Het
Tecpr1	A	G	5: 144,148,239 (GRCm39)	S389P	probably benign	Het
Tle3	T	A	9: 61,281,296 (GRCm39)	I29N	probably damaging	Het
Tmem63c	C	A	12: 87,103,971 (GRCm39)	N73K	probably damaging	Het
Tpm2	T	A	4: 43,518,301 (GRCm39)		probably null	Het
Trak2	A	T	1: 58,950,971 (GRCm39)	D405E	possibly damaging	Het
Ttn	C	A	2: 76,575,516 (GRCm39)	A23380S	probably damaging	Het
Ttn	A	T	2: 76,715,495 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,857 (GRCm39)	S391P	probably damaging	Het
Ush2a	G	T	1: 187,999,223 (GRCm39)	E178*	probably null	Het
Vamp9	G	T	5: 100,089,226 (GRCm39)	A164S	probably benign	Het
Ylpm1	C	A	12: 85,044,030 (GRCm39)	T256K	unknown	Het
Zfp1007	A	G	5: 109,824,730 (GRCm39)	V240A	probably benign	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
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'- TCACATCACCTTGCCATTGG -3'
(R):5'- CGGCATTAGTGAAGTCCTGG -3'

Sequencing Primer
(F):5'- GCCATTGGCTAGCTGTACAG -3'
(R):5'- AGGAGCAGGTAGACTTCCTATTC -3'

Posted On

2017-06-26