Mutagenetix > Incidental Mutations

Incidental Mutation 'R7308:Gm4788'

567363

Institutional Source

Beutler Lab

Gene Symbol

Gm4788

Ensembl Gene

ENSMUSG00000070594

Gene Name

predicted gene 4788

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7308 (G1)

Quality Score

164.009

Status

Not validated

Chromosome

Chromosomal Location

139697623-139781243 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139754303 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 185 (V185A)

Ref Sequence

ENSEMBL: ENSMUSP00000107620 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027612
AA Change: V185A

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: V185A

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: V185A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: V185A

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

possibly damaging
Transcript: ENSMUST00000111989
AA Change: V185A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: V185A

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,423,770	I43T	probably benign	Het
Ankar	G	A	1: 72,651,794	Q1175*	probably null	Het
Aqr	G	A	2: 114,104,062	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 80,026,558		probably null	Het
Atf7ip	T	A	6: 136,565,089	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,888,152		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,888,169		probably benign	Het
Bcar3	T	A	3: 122,508,493	V279E	probably benign	Het
Cd96	C	T	16: 46,071,734		probably null	Het
Cdca2	G	A	14: 67,694,991	P488S	probably benign	Het
Col4a2	T	G	8: 11,406,856		probably null	Het
Cyp4a12a	A	G	4: 115,327,758	R379G	possibly damaging	Het
Defb34	A	G	8: 19,126,379	S29G	probably benign	Het
Dnah11	A	G	12: 117,995,275	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,665,162	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,151,866	H84L	probably benign	Het
Enah	A	T	1: 181,906,385		probably null	Het
Fam178b	G	T	1: 36,659,407	Q78K	probably benign	Het
Glb1	A	G	9: 114,473,863	N589S	probably damaging	Het
Gm1527	C	T	3: 28,902,280	H132Y	probably benign	Het
Gm4858	A	G	3: 93,074,565	T223A	probably benign	Het
Gm5799	A	G	14: 43,543,707	R22G	possibly damaging	Het
Grip2	T	C	6: 91,778,688	D617G	possibly damaging	Het
Hax1	A	T	3: 89,998,566	D5E	possibly damaging	Het
Hic1	A	G	11: 75,167,151	L304P	probably damaging	Het
Hmox1	T	A	8: 75,097,019	I105N	probably damaging	Het
Hormad1	T	C	3: 95,562,555	S38P	probably damaging	Het
Hspa4	A	G	11: 53,267,103	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,174,729	H497L	probably benign	Het
Kcnma1	C	T	14: 23,330,935	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,900,463	F479S	possibly damaging	Het
Krba1	T	C	6: 48,406,339	V203A	probably benign	Het
Lct	G	T	1: 128,319,087	P233Q	probably benign	Het
Ly75	T	C	2: 60,334,515	D773G	probably benign	Het
Malt1	T	C	18: 65,449,609		probably null	Het
Man1a2	A	T	3: 100,620,105	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,082,928	T584A	probably benign	Het
Myof	A	T	19: 37,910,911	S1800R	probably damaging	Het
Nbea	A	C	3: 56,091,031	C118W	probably damaging	Het
Nsd3	A	T	8: 25,640,724	D35V	probably damaging	Het
Olfr1386	G	A	11: 49,469,927		probably benign	Het
Olfr739	G	A	14: 50,425,265	V249I	possibly damaging	Het
Pcnx3	C	T	19: 5,686,147	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,323,173	P462L	probably benign	Het
Pdia5	T	G	16: 35,456,509	K96N	probably damaging	Het
Pik3c2a	T	C	7: 116,373,839	Y707C	probably damaging	Het
Ppig	A	T	2: 69,749,462	N447Y	unknown	Het
Ppp1r9b	T	C	11: 95,004,571	L695P	possibly damaging	Het
Proser1	C	T	3: 53,478,704	A669V	probably benign	Het
Rdx	A	T	9: 52,068,870	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,798,010	S95P	probably benign	Het
Slc4a3	T	A	1: 75,557,362	S1118T	probably benign	Het
Slf1	G	A	13: 77,051,168	P698L	probably benign	Het
Sptbn2	A	G	19: 4,751,574	E2338G	probably benign	Het
Taok3	T	A	5: 117,200,151	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,952,816	L649F	probably damaging	Het
Tmem132b	A	T	5: 125,787,646	I939F	possibly damaging	Het
Trav17	T	A	14: 53,806,979	Y69N	probably benign	Het
Trmt13	T	C	3: 116,594,739	D16G	probably benign	Het
Upf2	T	A	2: 5,973,518	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875	T180A	probably benign	Het
Wdyhv1	T	C	15: 58,152,610	V85A	possibly damaging	Het
Zfp738	A	T	13: 67,669,553	I773N	probably benign	Het
Zscan4e	A	T	7: 11,307,153	M264K	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACGGATATTCTACAATGCAGG -3'
(R):5'- TGAGTGTTCAGAATCTCAGATGAC -3'

Sequencing Primer
(F):5'- CGGATATTCTACAATGCAGGAATAAG -3'
(R):5'- GTTCAGAATCTCAGATGACTATGATG -3'

Posted On

2019-06-26