Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Tubgcp5'

194365

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex associated protein 5

Synonyms

B130010C12Rik, GCP5

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55794154-55831677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55815020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 550 (S550T)

Ref Sequence

ENSEMBL: ENSMUSP00000146111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206191]

AlphaFold

Q8BKN5

Predicted Effect

probably benign
Transcript: ENSMUST00000032627
AA Change: S550T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: S550T

Domain	Start	End	E-Value	Type
low complexity region	109	124	N/A	INTRINSIC
Pfam:Spc97_Spc98	273	942	1.2e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205779

Predicted Effect

probably benign
Transcript: ENSMUST00000205796
AA Change: S550T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	C	X: 112,241,085 (GRCm38)	Y22H	probably benign	Het
Afg1l	T	C	10: 42,454,495 (GRCm38)	T59A	probably benign	Het
Ankrd17	T	A	5: 90,264,797 (GRCm38)	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,638,638 (GRCm38)	S68N	probably benign	Het
Arhgap31	A	G	16: 38,625,590 (GRCm38)	I131T	probably damaging	Het
Arhgef10	A	T	8: 14,979,836 (GRCm38)	I874F	probably damaging	Het
Arl5b	T	C	2: 15,069,837 (GRCm38)	V43A	probably benign	Het
BC051665	G	A	13: 60,785,040 (GRCm38)	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,306 (GRCm38)	D69G	probably damaging	Het
Chd6	G	A	2: 160,966,639 (GRCm38)	L1552F	probably damaging	Het
Chrd	A	G	16: 20,737,441 (GRCm38)	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,693,972 (GRCm38)	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360 (GRCm38)	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526 (GRCm38)		probably null	Het
Ehbp1l1	A	G	19: 5,716,406 (GRCm38)	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,786,891 (GRCm38)	E182K	probably damaging	Het
Fam170b	A	T	14: 32,835,886 (GRCm38)	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,462,131 (GRCm38)	P760L	probably damaging	Het
Gabra5	A	T	7: 57,508,048 (GRCm38)	L6H	probably benign	Het
Gabrq	G	A	X: 72,833,383 (GRCm38)	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm7334	T	A	17: 50,698,978 (GRCm38)	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,325,383 (GRCm38)	A286T	probably damaging	Het
Gsta4	C	A	9: 78,204,329 (GRCm38)	Y79*	probably null	Het
Hcn1	T	A	13: 117,656,734 (GRCm38)	V174D	probably benign	Het
Hic1	G	T	11: 75,165,794 (GRCm38)	C756*	probably null	Het
Hivep3	C	T	4: 120,096,671 (GRCm38)	T728I	probably benign	Het
Ice1	T	C	13: 70,604,442 (GRCm38)	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,431,282 (GRCm38)	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,657,442 (GRCm38)	D90G	probably benign	Het
Krt73	C	T	15: 101,793,928 (GRCm38)	G500D	probably damaging	Het
Lama3	A	G	18: 12,402,062 (GRCm38)	K156E	probably damaging	Het
Mdm2	T	C	10: 117,696,022 (GRCm38)	K94E	probably damaging	Het
Mitf	T	C	6: 97,941,099 (GRCm38)	S26P	probably damaging	Het
Myh4	C	A	11: 67,256,295 (GRCm38)	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,073,114 (GRCm38)	V671E	probably benign	Het
Nop9	C	T	14: 55,752,134 (GRCm38)	A407V	possibly damaging	Het
Nrap	T	A	19: 56,335,042 (GRCm38)	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,778,518 (GRCm38)	C766S	probably damaging	Het
Olfr625-ps1	A	G	7: 103,682,861 (GRCm38)	N38D	possibly damaging	Het
Olfr735	T	C	14: 50,346,220 (GRCm38)	Y43C	probably damaging	Het
Olfr768	T	C	10: 129,093,747 (GRCm38)	I76V	probably benign	Het
Olfr845	A	G	9: 19,338,858 (GRCm38)	T133A	probably benign	Het
Oog3	C	T	4: 144,159,122 (GRCm38)	G302D	possibly damaging	Het
Pdzph1	C	T	17: 58,973,752 (GRCm38)	V512I	probably benign	Het
Phf2	A	C	13: 48,819,557 (GRCm38)	S408A	unknown	Het
Pigk	T	G	3: 152,740,156 (GRCm38)	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,121,946 (GRCm38)	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,058,482 (GRCm38)	S253P	probably damaging	Het
Ptgfrn	A	T	3: 101,050,122 (GRCm38)	I712N	probably benign	Het
Rapgef2	A	T	3: 79,092,703 (GRCm38)	D579E	probably damaging	Het
Rims2	T	A	15: 39,462,580 (GRCm38)	D769E	probably damaging	Het
Rptor	T	A	11: 119,725,061 (GRCm38)	C134S	probably damaging	Het
S100a1	A	G	3: 90,511,292 (GRCm38)	F72L	probably damaging	Het
Scube1	T	A	15: 83,721,945 (GRCm38)	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,712,685 (GRCm38)	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,273,250 (GRCm38)	T397A	probably benign	Het
Siglece	G	A	7: 43,651,532 (GRCm38)	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,671,792 (GRCm38)	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,787,212 (GRCm38)	V156A	probably benign	Het
Smchd1	A	T	17: 71,391,379 (GRCm38)	V1134E	probably damaging	Het
Sorbs2	A	G	8: 45,770,576 (GRCm38)	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,603,875 (GRCm38)	W326C	possibly damaging	Het
Taf2	A	G	15: 55,071,397 (GRCm38)	V45A	probably benign	Het
Tiparp	A	T	3: 65,532,049 (GRCm38)	H80L	probably damaging	Het
Tmem71	T	A	15: 66,541,699 (GRCm38)	T175S	probably benign	Het
Tmem87b	T	A	2: 128,839,170 (GRCm38)	V338D	probably damaging	Het
Trdn	A	G	10: 33,364,008 (GRCm38)	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039 (GRCm38)	F213L	probably benign	Het
Tufm	A	G	7: 126,490,472 (GRCm38)	D446G	probably benign	Het
Vipr1	A	T	9: 121,661,419 (GRCm38)	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,401,766 (GRCm38)	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,092,044 (GRCm38)	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,023,943 (GRCm38)		probably null	Het
Ywhae	T	C	11: 75,755,665 (GRCm38)	V119A	probably damaging	Het
Zfand5	A	G	19: 21,280,524 (GRCm38)	R199G	probably damaging	Het
Zfp810	T	C	9: 22,278,532 (GRCm38)	Y360C	possibly damaging	Het
Zrsr1	A	G	11: 22,973,637 (GRCm38)	D137G	probably benign	Het

Other mutations in Tubgcp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Tubgcp5	APN	7	55,806,595 (GRCm38)	missense	possibly damaging	0.91
IGL01291:Tubgcp5	APN	7	55,808,529 (GRCm38)	missense	possibly damaging	0.83
IGL01343:Tubgcp5	APN	7	55,796,031 (GRCm38)	splice site	probably benign
IGL01597:Tubgcp5	APN	7	55,806,832 (GRCm38)	splice site	probably benign
IGL01688:Tubgcp5	APN	7	55,815,018 (GRCm38)	missense	possibly damaging	0.92
IGL01843:Tubgcp5	APN	7	55,799,473 (GRCm38)	missense	probably benign	0.02
IGL01950:Tubgcp5	APN	7	55,806,088 (GRCm38)	missense	possibly damaging	0.93
IGL01957:Tubgcp5	APN	7	55,818,757 (GRCm38)	missense	probably damaging	1.00
IGL02902:Tubgcp5	APN	7	55,806,607 (GRCm38)	nonsense	probably null
IGL03105:Tubgcp5	APN	7	55,825,581 (GRCm38)	missense	probably damaging	1.00
ANU05:Tubgcp5	UTSW	7	55,808,529 (GRCm38)	missense	possibly damaging	0.83
R0078:Tubgcp5	UTSW	7	55,818,895 (GRCm38)	missense	probably damaging	1.00
R0322:Tubgcp5	UTSW	7	55,814,978 (GRCm38)	missense	probably damaging	0.98
R0362:Tubgcp5	UTSW	7	55,800,684 (GRCm38)	missense	probably damaging	1.00
R0449:Tubgcp5	UTSW	7	55,823,567 (GRCm38)	missense	probably benign
R0488:Tubgcp5	UTSW	7	55,829,338 (GRCm38)	missense	probably damaging	0.96
R0853:Tubgcp5	UTSW	7	55,814,851 (GRCm38)	splice site	probably benign
R0885:Tubgcp5	UTSW	7	55,806,055 (GRCm38)	nonsense	probably null
R1483:Tubgcp5	UTSW	7	55,825,707 (GRCm38)	critical splice donor site	probably null
R1746:Tubgcp5	UTSW	7	55,808,537 (GRCm38)	missense	probably benign	0.05
R2148:Tubgcp5	UTSW	7	55,799,511 (GRCm38)	missense	probably damaging	1.00
R2229:Tubgcp5	UTSW	7	55,830,881 (GRCm38)	missense	probably damaging	1.00
R3766:Tubgcp5	UTSW	7	55,830,866 (GRCm38)	missense	probably damaging	0.98
R4154:Tubgcp5	UTSW	7	55,805,329 (GRCm38)	missense	probably benign	0.01
R4838:Tubgcp5	UTSW	7	55,794,185 (GRCm38)	unclassified	probably benign
R4948:Tubgcp5	UTSW	7	55,806,123 (GRCm38)	missense	probably benign	0.00
R5110:Tubgcp5	UTSW	7	55,808,637 (GRCm38)	missense	probably damaging	0.96
R5347:Tubgcp5	UTSW	7	55,823,685 (GRCm38)	missense	probably damaging	1.00
R5417:Tubgcp5	UTSW	7	55,825,661 (GRCm38)	missense	possibly damaging	0.90
R5574:Tubgcp5	UTSW	7	55,805,329 (GRCm38)	missense	probably benign	0.01
R5758:Tubgcp5	UTSW	7	55,818,895 (GRCm38)	missense	probably damaging	1.00
R5957:Tubgcp5	UTSW	7	55,814,962 (GRCm38)	missense	probably benign	0.03
R6014:Tubgcp5	UTSW	7	55,823,609 (GRCm38)	missense	probably benign
R6141:Tubgcp5	UTSW	7	55,806,778 (GRCm38)	missense	probably benign	0.30
R6289:Tubgcp5	UTSW	7	55,795,923 (GRCm38)	missense	probably benign	0.05
R6511:Tubgcp5	UTSW	7	55,817,392 (GRCm38)	nonsense	probably null
R6563:Tubgcp5	UTSW	7	55,825,661 (GRCm38)	missense	possibly damaging	0.90
R6574:Tubgcp5	UTSW	7	55,823,583 (GRCm38)	missense	probably benign
R6596:Tubgcp5	UTSW	7	55,806,634 (GRCm38)	missense	probably benign	0.38
R7016:Tubgcp5	UTSW	7	55,794,229 (GRCm38)	missense	possibly damaging	0.76
R7038:Tubgcp5	UTSW	7	55,805,366 (GRCm38)	missense	probably damaging	0.99
R7075:Tubgcp5	UTSW	7	55,829,407 (GRCm38)	missense	probably benign	0.04
R7083:Tubgcp5	UTSW	7	55,800,695 (GRCm38)	nonsense	probably null
R7213:Tubgcp5	UTSW	7	55,806,112 (GRCm38)	missense	probably damaging	0.97
R7284:Tubgcp5	UTSW	7	55,823,567 (GRCm38)	missense	probably benign
R7600:Tubgcp5	UTSW	7	55,808,513 (GRCm38)	missense	probably benign
R7813:Tubgcp5	UTSW	7	55,800,696 (GRCm38)	missense	possibly damaging	0.49
R7920:Tubgcp5	UTSW	7	55,816,562 (GRCm38)	missense	probably benign	0.00
R7948:Tubgcp5	UTSW	7	55,794,248 (GRCm38)	missense	probably benign	0.01
R8438:Tubgcp5	UTSW	7	55,804,615 (GRCm38)	missense	possibly damaging	0.67
R8499:Tubgcp5	UTSW	7	55,804,615 (GRCm38)	missense	possibly damaging	0.67
R9087:Tubgcp5	UTSW	7	55,817,358 (GRCm38)	missense	probably damaging	1.00
R9211:Tubgcp5	UTSW	7	55,806,583 (GRCm38)	missense	probably benign	0.05
R9269:Tubgcp5	UTSW	7	55,795,945 (GRCm38)	missense	possibly damaging	0.94
R9329:Tubgcp5	UTSW	7	55,829,433 (GRCm38)	critical splice donor site	probably null
R9355:Tubgcp5	UTSW	7	55,817,429 (GRCm38)	critical splice donor site	probably null
R9498:Tubgcp5	UTSW	7	55,813,485 (GRCm38)	missense	possibly damaging	0.46
R9687:Tubgcp5	UTSW	7	55,825,579 (GRCm38)	critical splice acceptor site	probably null
Z1088:Tubgcp5	UTSW	7	55,815,101 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCGTCAGTCCTGCTCAACCCTAAT -3'
(R):5'- GCAGGCCAGAGAAGTCATGCAGA -3'

Sequencing Primer
(F):5'- cttaccctctgagctatctcac -3'
(R):5'- AGAAGAAGCAGGCTGCTACC -3'

Posted On

2014-05-23