Mutagenetix > Incidental Mutation

Incidental Mutation 'R1670:Gpatch11'

187587

Institutional Source

Beutler Lab

Gene Symbol

Gpatch11

Ensembl Gene

ENSMUSG00000050668

Gene Name

G patch domain containing 11

Synonyms

2310002B06Rik, Ccdc75

MMRRC Submission

039706-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R1670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79142996-79155737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79146529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 58 (E58G)

Ref Sequence

ENSEMBL: ENSMUSP00000126814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097281] [ENSMUST00000170759]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000097281

SMART Domains

Protein: ENSMUSP00000094882
Gene: ENSMUSG00000039414

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	46	491	4e-6	SMART
SCOP:d1qbkb_	846	1338	2e-16	SMART
low complexity region	1641	1650	N/A	INTRINSIC
low complexity region	2039	2057	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170759
AA Change: E58G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: E58G

Domain	Start	End	E-Value	Type
G_patch	71	117	5.8e-14	SMART
DUF4187	195	263	1.51e-25	SMART

Meta Mutation Damage Score

0.0645

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,540,448 (GRCm39)	V1497A	possibly damaging	Het
Adam15	T	C	3: 89,255,817 (GRCm39)		probably benign	Het
Angel2	T	A	1: 190,674,360 (GRCm39)	S371T	probably benign	Het
Atr	T	A	9: 95,743,509 (GRCm39)	N49K	probably benign	Het
Bace2	G	A	16: 97,213,335 (GRCm39)	M228I	probably damaging	Het
Bdp1	A	C	13: 100,163,941 (GRCm39)		probably null	Het
Calr	A	T	8: 85,570,748 (GRCm39)	D302E	probably benign	Het
Camta1	T	C	4: 151,164,228 (GRCm39)	D340G	probably benign	Het
Car11	C	T	7: 45,352,949 (GRCm39)	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,636,409 (GRCm39)	S275T	probably benign	Het
Cib2	G	A	9: 54,455,653 (GRCm39)	R104W	probably damaging	Het
CN725425	T	C	15: 91,130,018 (GRCm39)	S294P	possibly damaging	Het
Coro7	G	A	16: 4,446,097 (GRCm39)	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,069,540 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,914,341 (GRCm39)	Y979N	possibly damaging	Het
Dnaaf9	G	A	2: 130,554,299 (GRCm39)	P187S	probably damaging	Het
Dnah8	A	T	17: 30,944,098 (GRCm39)	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942 (GRCm39)	I3976N	possibly damaging	Het
Ebi3	T	C	17: 56,261,479 (GRCm39)	I125T	probably damaging	Het
Elfn2	C	T	15: 78,556,568 (GRCm39)	A660T	probably benign	Het
F12	C	T	13: 55,569,346 (GRCm39)	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	A	7: 129,782,187 (GRCm39)	D413V	probably damaging	Het
Gdf10	T	A	14: 33,654,000 (GRCm39)	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,845,130 (GRCm39)	V41A	probably benign	Het
Gm9857	A	T	3: 108,847,478 (GRCm39)		probably benign	Het
Gpr55	A	G	1: 85,869,137 (GRCm39)	V148A	possibly damaging	Het
Gucy1b1	A	G	3: 81,952,767 (GRCm39)	I222T	probably benign	Het
Hnf4a	T	C	2: 163,404,496 (GRCm39)	S227P	probably damaging	Het
Hsfy2	A	G	1: 56,675,548 (GRCm39)	S330P	possibly damaging	Het
Hycc1	T	A	5: 24,204,989 (GRCm39)	M1L	possibly damaging	Het
Ift122	T	C	6: 115,900,844 (GRCm39)	V1054A	probably benign	Het
Il27	T	A	7: 126,188,647 (GRCm39)	E175D	probably benign	Het
Lactb2	A	T	1: 13,730,641 (GRCm39)	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,403,605 (GRCm39)	V576A	probably benign	Het
Mansc4	C	G	6: 146,976,689 (GRCm39)	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,183,379 (GRCm39)		probably benign	Het
Mrpl16	C	T	19: 11,751,959 (GRCm39)	R240*	probably null	Het
Muc17	A	G	5: 137,172,843 (GRCm39)	V70A	probably benign	Het
Ndnf	A	G	6: 65,680,054 (GRCm39)	D111G	probably benign	Het
Nek4	T	C	14: 30,704,384 (GRCm39)	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,412,126 (GRCm39)	M98K	probably benign	Het
Nup188	T	C	2: 30,230,667 (GRCm39)	S1402P	probably benign	Het
Or10j2	T	A	1: 173,098,467 (GRCm39)	S242T	probably damaging	Het
Or2t48	A	T	11: 58,420,237 (GRCm39)	S192T	probably damaging	Het
Or4f14b	C	T	2: 111,775,264 (GRCm39)	C179Y	probably damaging	Het
Or52i2	A	G	7: 102,319,609 (GRCm39)	T161A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,607 (GRCm39)	N88K	probably benign	Het
Or5ac24	T	C	16: 59,165,790 (GRCm39)	I91M	possibly damaging	Het
Or5m9b	T	A	2: 85,905,594 (GRCm39)	V170D	probably benign	Het
Parp10	A	T	15: 76,126,270 (GRCm39)	V306E	probably benign	Het
Pcnx3	A	G	19: 5,723,343 (GRCm39)	L1284P	probably damaging	Het
Pld1	A	T	3: 28,103,389 (GRCm39)	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893 (GRCm39)	D294G	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ptprn2	A	C	12: 116,685,792 (GRCm39)	T84P	possibly damaging	Het
Rln1	C	T	19: 29,309,468 (GRCm39)	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681 (GRCm39)	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660 (GRCm39)	T398A	probably benign	Het
Rprd2	G	T	3: 95,672,115 (GRCm39)	T1096K	probably damaging	Het
Sema3e	C	T	5: 14,212,199 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,548,945 (GRCm39)	C140S	probably damaging	Het
Shpk	A	C	11: 73,113,757 (GRCm39)	D390A	probably benign	Het
Slc22a20	C	T	19: 6,022,876 (GRCm39)		probably benign	Het
Steap2	A	G	5: 5,727,393 (GRCm39)	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,111,289 (GRCm39)		probably null	Het
Tgm3	G	T	2: 129,883,688 (GRCm39)	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627 (GRCm39)	L186V	probably damaging	Het
Ttc41	T	A	10: 86,612,116 (GRCm39)	W1130R	possibly damaging	Het
Ttpal	T	C	2: 163,457,286 (GRCm39)	F253L	possibly damaging	Het
Vmn2r99	G	T	17: 19,582,514 (GRCm39)	V40F	probably benign	Het
Xkr9	G	A	1: 13,771,167 (GRCm39)	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,661,268 (GRCm39)	A369V	probably benign	Het

Other mutations in Gpatch11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:Gpatch11	APN	17	79,149,593 (GRCm39)	missense	probably benign
IGL02125:Gpatch11	APN	17	79,147,538 (GRCm39)	missense	probably benign	0.21
IGL02183:Gpatch11	APN	17	79,149,660 (GRCm39)	critical splice donor site	probably null
IGL02223:Gpatch11	APN	17	79,152,608 (GRCm39)	missense	probably benign	0.23
IGL02224:Gpatch11	APN	17	79,148,522 (GRCm39)	splice site	probably benign
IGL03116:Gpatch11	APN	17	79,151,282 (GRCm39)	nonsense	probably null
FR4340:Gpatch11	UTSW	17	79,149,603 (GRCm39)	small insertion	probably benign
FR4342:Gpatch11	UTSW	17	79,149,607 (GRCm39)	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	79,149,610 (GRCm39)	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	79,149,605 (GRCm39)	small insertion	probably benign
FR4449:Gpatch11	UTSW	17	79,149,597 (GRCm39)	small insertion	probably benign
FR4548:Gpatch11	UTSW	17	79,149,604 (GRCm39)	small insertion	probably benign
FR4737:Gpatch11	UTSW	17	79,149,609 (GRCm39)	small insertion	probably benign
FR4737:Gpatch11	UTSW	17	79,149,600 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,601 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,600 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,599 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,609 (GRCm39)	small insertion	probably benign
FR4976:Gpatch11	UTSW	17	79,149,602 (GRCm39)	nonsense	probably null
R1986:Gpatch11	UTSW	17	79,151,266 (GRCm39)	missense	probably benign	0.04
R2071:Gpatch11	UTSW	17	79,148,514 (GRCm39)	critical splice donor site	probably null
R3056:Gpatch11	UTSW	17	79,151,272 (GRCm39)	missense	probably damaging	1.00
R4348:Gpatch11	UTSW	17	79,148,446 (GRCm39)	missense	probably damaging	1.00
R4352:Gpatch11	UTSW	17	79,148,446 (GRCm39)	missense	probably damaging	1.00
R5426:Gpatch11	UTSW	17	79,148,663 (GRCm39)	missense	possibly damaging	0.47
R5546:Gpatch11	UTSW	17	79,149,548 (GRCm39)	nonsense	probably null
R6681:Gpatch11	UTSW	17	79,147,528 (GRCm39)	missense	probably damaging	1.00
R7221:Gpatch11	UTSW	17	79,149,546 (GRCm39)	missense	possibly damaging	0.69
R7409:Gpatch11	UTSW	17	79,146,595 (GRCm39)	missense	probably damaging	1.00
R7662:Gpatch11	UTSW	17	79,146,484 (GRCm39)	missense	probably benign	0.44
R8906:Gpatch11	UTSW	17	79,145,289 (GRCm39)	missense	probably benign	0.17
R9265:Gpatch11	UTSW	17	79,146,547 (GRCm39)	missense	probably benign	0.11
R9277:Gpatch11	UTSW	17	79,148,446 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GAGCAAATGTCGGGAACTCACCTAC -3'
(R):5'- TGGCATGGGAGGCATCCTAAATGG -3'

Sequencing Primer
(F):5'- GTCGGGAACTCACCTACAAGAG -3'
(R):5'- ACATCTCTGAAAGGGCTGTTAG -3'

Posted On

2014-05-09