Mutagenetix > Incidental Mutations

Incidental Mutation 'R6255:Gm4788'

506032

Institutional Source

Beutler Lab

Gene Symbol

Gm4788

Ensembl Gene

ENSMUSG00000070594

Gene Name

predicted gene 4788

Synonyms

MMRRC Submission

044372-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139697623-139781243 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 139753011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 256 (C256*)

Ref Sequence

ENSEMBL: ENSMUSP00000107620 (fasta)

Gene Model

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

AlphaFold

E9Q8B5

Predicted Effect

probably null
Transcript: ENSMUST00000027612
AA Change: C256*

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: C256*

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 null
Transcript: ENSMUST00000111986
AA Change: C256*

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: C256*

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 null
Transcript: ENSMUST00000111989
AA Change: C256*

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: C256*

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	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
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
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'- ACATCAATGTCTTAGAAAATGGTCC -3'
(R):5'- AACCCTTGGTATAGTTCCAGTTTTAAG -3'

Sequencing Primer
(F):5'- AGAAAATGGTCCTTTTTCGTAGG -3'
(R):5'- AGGAAGTAAATTGTTGTTGTTCTCC -3'

Posted On

2018-02-28