Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02318:Gm4788'

288098

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4788

Ensembl Gene

ENSMUSG00000070594

Gene Name

predicted gene 4788

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

139697623-139781243 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139781097 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 24 (E24D)

Ref Sequence

ENSEMBL: ENSMUSP00000107620 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027612
AA Change: E24D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: E24D

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

probably benign
Transcript: ENSMUST00000111986
AA Change: E24D

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: E24D

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 benign
Transcript: ENSMUST00000111989
AA Change: E24D

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: E24D

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799		probably null	Het
Abhd18	G	A	3: 40,930,227		probably null	Het
Akr1c6	G	T	13: 4,438,497	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,259,331	T1136A	probably benign	Het
Ascc3	T	A	10: 50,728,154	Y1323*	probably null	Het
Bsx	A	C	9: 40,874,221	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478		probably null	Het
Cpne9	A	G	6: 113,293,738	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975	N401K	probably damaging	Het
Gm4795	C	T	10: 45,006,639		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238		probably null	Het
Inpp4a	T	C	1: 37,368,303	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Lmo7	C	T	14: 101,900,066		probably benign	Het
Luc7l3	C	T	11: 94,292,993	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741	I219S	probably benign	Het
Myo9b	G	A	8: 71,354,124	E1581K	probably damaging	Het
Nfs1	T	A	2: 156,124,271	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918		probably null	Het
Nxf1	G	A	19: 8,764,150		probably null	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323		probably benign	Het
Sall2	T	C	14: 52,315,565	T56A	probably damaging	Het
Sgk1	T	C	10: 21,995,541	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,073,239	A281T	probably damaging	Het
Spta1	A	G	1: 174,174,463	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,763,584	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836	V716A	probably benign	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
IGL01924:Gm4788	APN	1	139739206	missense	probably damaging	0.99
IGL02032:Gm4788	APN	1	139774546	missense	probably damaging	1.00
IGL02254:Gm4788	APN	1	139733405	splice site	probably benign
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	synonymous	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	unclassified	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
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

Posted On

2015-04-16