Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Gm4788'

180216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4788

Ensembl Gene

ENSMUSG00000070594

Gene Name

predicted gene 4788

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

139697623-139781243 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139739206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 444 (L444F)

Ref Sequence

ENSEMBL: ENSMUSP00000107620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027612] [ENSMUST00000111986] [ENSMUST00000111989]

AlphaFold

E9Q8B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027612
AA Change: L443F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: L443F

Domain	Start	End	E-Value	Type
CCP	28	88	1.65e-2	SMART
CCP	92	145	1.15e-10	SMART
CCP	151	208	5.65e-10	SMART
CCP	212	267	1.12e-4	SMART
CCP	272	325	4.52e-9	SMART
CCP	332	386	9.1e-14	SMART
CCP	393	446	1.58e-13	SMART
CCP	455	505	4.92e-1	SMART
CCP	511	564	8.9e-8	SMART
CCP	569	622	4.18e-13	SMART
CCP	627	681	3.5e-15	SMART
CCP	688	742	5.69e-15	SMART
CCP	746	807	2.77e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111986
AA Change: L444F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: L444F

Domain	Start	End	E-Value	Type
CCP	28	88	1.65e-2	SMART
CCP	92	145	1.15e-10	SMART
CCP	151	208	5.65e-10	SMART
CCP	212	267	1.12e-4	SMART
CCP	272	325	4.52e-9	SMART
CCP	333	387	9.1e-14	SMART
CCP	394	447	1.58e-13	SMART
CCP	456	506	4.92e-1	SMART
CCP	512	565	8.9e-8	SMART
CCP	571	635	2.66e-6	SMART
CCP	640	693	4.18e-13	SMART
CCP	700	754	5.69e-15	SMART
CCP	758	819	2.77e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111989
AA Change: L444F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: L444F

Domain	Start	End	E-Value	Type
CCP	28	88	1.65e-2	SMART
CCP	92	145	1.15e-10	SMART
CCP	151	208	5.65e-10	SMART
CCP	212	267	1.12e-4	SMART
CCP	272	325	4.52e-9	SMART
CCP	333	387	9.1e-14	SMART
CCP	394	447	1.58e-13	SMART
CCP	456	506	4.92e-1	SMART
CCP	512	565	8.9e-8	SMART
CCP	571	635	2.66e-6	SMART
CCP	640	693	4.18e-13	SMART
CCP	698	752	3.5e-15	SMART
CCP	759	813	5.69e-15	SMART
CCP	817	878	2.77e0	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986		probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453		probably benign	Het
Chit1	A	G	1: 134,149,410	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019		probably benign	Het
Cobl	G	T	11: 12,254,596	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255		probably null	Het
Khnyn	A	G	14: 55,894,969	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696		probably benign	Het
Myom2	A	G	8: 15,069,685	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830	C247*	probably null	Het
Nup54	G	A	5: 92,424,435	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304	L233H	probably damaging	Het
Sec24c	T	A	14: 20,689,689	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825		probably null	Het
Slitrk1	G	A	14: 108,911,239	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783	H139N	possibly damaging	Het

Other mutations in Gm4788

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Gm4788	APN	1	139731574	missense	probably damaging	0.99
IGL01088:Gm4788	APN	1	139698085	utr 3 prime	probably benign
IGL01419:Gm4788	APN	1	139739644	critical splice acceptor site	probably null
IGL01552:Gm4788	APN	1	139739302	missense	probably damaging	1.00
IGL02032:Gm4788	APN	1	139774546	missense	probably damaging	1.00
IGL02254:Gm4788	APN	1	139733405	splice site	probably benign
IGL02318:Gm4788	APN	1	139781097	missense	probably benign	0.20
IGL02527:Gm4788	APN	1	139753045	missense	probably damaging	1.00
IGL02531:Gm4788	APN	1	139774569	missense	probably benign	0.10
IGL02587:Gm4788	APN	1	139701930	missense	probably damaging	1.00
IGL02644:Gm4788	APN	1	139781167	start codon destroyed	probably null	0.63
IGL02852:Gm4788	APN	1	139774016	missense	probably damaging	1.00
IGL02963:Gm4788	APN	1	139731596	nonsense	probably null
IGL03084:Gm4788	APN	1	139781142	missense	possibly damaging	0.94
R0131:Gm4788	UTSW	1	139754271	missense	probably damaging	0.98
R0131:Gm4788	UTSW	1	139754271	missense	probably damaging	0.98
R0132:Gm4788	UTSW	1	139754271	missense	probably damaging	0.98
R0549:Gm4788	UTSW	1	139739488	missense	probably damaging	1.00
R0558:Gm4788	UTSW	1	139739492	missense	probably damaging	0.99
R0610:Gm4788	UTSW	1	139701846	missense	probably benign	0.20
R1341:Gm4788	UTSW	1	139732393	missense	probably damaging	0.98
R1460:Gm4788	UTSW	1	139698196	missense	probably damaging	0.99
R1544:Gm4788	UTSW	1	139736870	missense	probably damaging	1.00
R1873:Gm4788	UTSW	1	139774660	missense	probably damaging	0.97
R2032:Gm4788	UTSW	1	139733255	splice site	probably benign
R2111:Gm4788	UTSW	1	139774679	splice site	probably benign
R2179:Gm4788	UTSW	1	139731541	missense	probably damaging	1.00
R3806:Gm4788	UTSW	1	139753035	missense	probably damaging	1.00
R4356:Gm4788	UTSW	1	139732310	missense	probably damaging	1.00
R4747:Gm4788	UTSW	1	139698184	missense	probably damaging	1.00
R4838:Gm4788	UTSW	1	139733443	missense	probably damaging	1.00
R4867:Gm4788	UTSW	1	139774475	critical splice donor site	probably null
R4910:Gm4788	UTSW	1	139774563	missense	probably damaging	1.00
R4911:Gm4788	UTSW	1	139774563	missense	probably damaging	1.00
R5050:Gm4788	UTSW	1	139736840	missense	probably damaging	0.99
R5120:Gm4788	UTSW	1	139753103	missense	probably benign	0.39
R5259:Gm4788	UTSW	1	139740495	missense	probably damaging	1.00
R5504:Gm4788	UTSW	1	139701820	missense	probably benign	0.18
R5825:Gm4788	UTSW	1	139774598	splice site	probably null
R5949:Gm4788	UTSW	1	139733149	missense	probably damaging	0.98
R6140:Gm4788	UTSW	1	139732395	missense	probably damaging	1.00
R6200:Gm4788	UTSW	1	139754335	missense	probably damaging	0.97
R6254:Gm4788	UTSW	1	139754390	missense	probably damaging	0.98
R6255:Gm4788	UTSW	1	139753011	nonsense	probably null
R6334:Gm4788	UTSW	1	139773924	splice site	probably null
R6611:Gm4788	UTSW	1	139732390	missense	probably damaging	1.00
R6798:Gm4788	UTSW	1	139698121	missense	probably benign	0.20
R6800:Gm4788	UTSW	1	139701981	missense	possibly damaging	0.85
R6895:Gm4788	UTSW	1	139740472	missense	possibly damaging	0.84
R6904:Gm4788	UTSW	1	139731653	missense	possibly damaging	0.79
R6994:Gm4788	UTSW	1	139736930	missense	possibly damaging	0.67
R7173:Gm4788	UTSW	1	139731677	nonsense	probably null
R7184:Gm4788	UTSW	1	139733084	missense	possibly damaging	0.65
R7192:Gm4788	UTSW	1	139739295	missense	probably damaging	0.96
R7205:Gm4788	UTSW	1	139753050	nonsense	probably null
R7302:Gm4788	UTSW	1	139739698	splice site	probably null
R7308:Gm4788	UTSW	1	139754303	missense	possibly damaging	0.71
R7735:Gm4788	UTSW	1	139732301	critical splice donor site	probably null
R8006:Gm4788	UTSW	1	139736852	missense	probably damaging	1.00
R8045:Gm4788	UTSW	1	139733505	missense	probably damaging	0.99
R8188:Gm4788	UTSW	1	139698130	missense	probably damaging	1.00
R8339:Gm4788	UTSW	1	139732419	missense	probably damaging	1.00
R9156:Gm4788	UTSW	1	139732347	missense	probably damaging	0.96
R9339:Gm4788	UTSW	1	139754306	missense	probably benign	0.26
R9520:Gm4788	UTSW	1	139754397	missense	probably damaging	0.99
R9525:Gm4788	UTSW	1	139774512	missense	probably damaging	1.00
R9554:Gm4788	UTSW	1	139740431	missense	probably benign	0.04
R9635:Gm4788	UTSW	1	139774026	missense	probably damaging	1.00
R9669:Gm4788	UTSW	1	139781134	missense	probably damaging	0.96
R9737:Gm4788	UTSW	1	139781134	missense	probably damaging	0.96
X0009:Gm4788	UTSW	1	139733549	missense	probably benign	0.08
X0024:Gm4788	UTSW	1	139733509	missense	probably damaging	1.00
Z1088:Gm4788	UTSW	1	139754261	missense	probably damaging	0.99
Z1176:Gm4788	UTSW	1	139698256	missense	probably benign	0.13
Z1176:Gm4788	UTSW	1	139733448	missense	probably damaging	1.00

Posted On

2014-05-07