Mutagenetix > Incidental Mutation

Incidental Mutation 'R0449:Tubgcp5'

39518

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp5

Ensembl Gene

ENSMUSG00000033790

Gene Name

tubulin, gamma complex component 5

Synonyms

GCP5, B130010C12Rik

MMRRC Submission

038649-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55443873-55481207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55473315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 798 (R798C)

Ref Sequence

ENSEMBL: ENSMUSP00000146111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032627] [ENSMUST00000205796] [ENSMUST00000206133] [ENSMUST00000206191]

AlphaFold

Q8BKN5

Predicted Effect

probably benign
Transcript: ENSMUST00000032627
AA Change: R861C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032627
Gene: ENSMUSG00000033790
AA Change: R861C

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: ENSMUST00000205311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205718

Predicted Effect

probably benign
Transcript: ENSMUST00000205796
AA Change: R798C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206133

Predicted Effect

probably benign
Transcript: ENSMUST00000206191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206789

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,885 (GRCm39)	R813*	probably null	Het
Accsl	T	A	2: 93,696,419 (GRCm39)	I60F	probably benign	Het
Adam29	C	T	8: 56,325,716 (GRCm39)	G246D	probably benign	Het
Ankrd13c	A	G	3: 157,697,351 (GRCm39)	I319V	probably benign	Het
Bag6	T	G	17: 35,360,442 (GRCm39)	V327G	probably damaging	Het
Barhl1	C	T	2: 28,805,304 (GRCm39)	A130T	probably benign	Het
Bend4	T	C	5: 67,555,583 (GRCm39)	D541G	probably damaging	Het
Birc6	A	C	17: 74,999,290 (GRCm39)	T4673P	probably damaging	Het
Ccdc81	T	C	7: 89,539,679 (GRCm39)	R186G	probably damaging	Het
Cdyl2	A	G	8: 117,309,931 (GRCm39)	F342L	probably damaging	Het
Chd3	C	A	11: 69,248,367 (GRCm39)	V748L	probably damaging	Het
CN725425	G	T	15: 91,123,147 (GRCm39)	R72I	possibly damaging	Het
Col22a1	A	G	15: 71,834,520 (GRCm39)		probably null	Het
Cops3	A	G	11: 59,709,243 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,433,606 (GRCm39)	Q940K	possibly damaging	Het
Dtnb	C	T	12: 3,641,971 (GRCm39)	Q45*	probably null	Het
Efr3a	T	A	15: 65,714,553 (GRCm39)	I280K	probably damaging	Het
Eml6	A	C	11: 29,843,213 (GRCm39)	V167G	probably benign	Het
Fam83c	T	A	2: 155,672,215 (GRCm39)	M407L	probably benign	Het
Fasn	T	C	11: 120,701,894 (GRCm39)	T1862A	probably benign	Het
Fbxl6	A	G	15: 76,420,155 (GRCm39)	I486T	probably damaging	Het
Gpr182	A	G	10: 127,586,565 (GRCm39)	Y129H	probably damaging	Het
Gpr75	A	G	11: 30,842,456 (GRCm39)	S454G	probably damaging	Het
Hectd4	G	A	5: 121,502,653 (GRCm39)		probably null	Het
Hsf4	A	G	8: 106,002,222 (GRCm39)	T411A	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il4	A	T	11: 53,509,432 (GRCm39)	M1K	probably null	Het
Ints11	G	T	4: 155,972,405 (GRCm39)	R463L	probably benign	Het
Ints4	G	A	7: 97,178,430 (GRCm39)	E677K	probably damaging	Het
Klk1b11	G	A	7: 43,647,216 (GRCm39)	C50Y	probably damaging	Het
Krt14	C	A	11: 100,098,221 (GRCm39)	G21C	unknown	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lama3	A	G	18: 12,633,569 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,634,478 (GRCm39)	L1414P	probably damaging	Het
Matn2	T	C	15: 34,428,687 (GRCm39)	S684P	probably damaging	Het
Mga	T	A	2: 119,771,862 (GRCm39)	V1574D	probably damaging	Het
Mia2	T	C	12: 59,219,380 (GRCm39)		probably null	Het
Mrpl21	T	A	19: 3,342,459 (GRCm39)		probably benign	Het
Msh5	T	A	17: 35,260,458 (GRCm39)	Q266L	probably benign	Het
Mybpc1	C	A	10: 88,376,822 (GRCm39)	C758F	probably damaging	Het
Myo15a	G	A	11: 60,400,422 (GRCm39)	A2932T	possibly damaging	Het
Nbas	T	A	12: 13,569,109 (GRCm39)	I2021K	probably benign	Het
Neurl4	T	C	11: 69,796,393 (GRCm39)	S424P	probably damaging	Het
Or10j5	T	A	1: 172,784,965 (GRCm39)	V201E	probably damaging	Het
Or2w3	A	C	11: 58,556,789 (GRCm39)	I135L	probably benign	Het
Or6c6	A	G	10: 129,187,103 (GRCm39)	M224V	probably benign	Het
Or7g17	T	C	9: 18,767,945 (GRCm39)	M8T	probably benign	Het
Or7g32	T	A	9: 19,389,388 (GRCm39)	I53F	possibly damaging	Het
Phlpp1	C	T	1: 106,278,308 (GRCm39)	R907W	probably damaging	Het
Pigg	T	C	5: 108,484,277 (GRCm39)	V508A	probably benign	Het
Pkhd1l1	T	G	15: 44,364,915 (GRCm39)	Y685D	probably damaging	Het
Polr3a	A	T	14: 24,534,534 (GRCm39)	I34N	probably damaging	Het
Pramel17	T	C	4: 101,694,158 (GRCm39)	S242G	probably benign	Het
Prex1	A	G	2: 166,411,297 (GRCm39)	V1434A	probably benign	Het
Ptprh	T	A	7: 4,601,005 (GRCm39)	D124V	probably damaging	Het
Rad54b	T	A	4: 11,606,131 (GRCm39)	I513N	probably benign	Het
Rbm12b1	A	G	4: 12,145,507 (GRCm39)	N493S	probably benign	Het
Rfx7	A	T	9: 72,517,586 (GRCm39)		probably null	Het
Serpini1	A	G	3: 75,520,648 (GRCm39)	K82E	probably benign	Het
Slc27a6	T	G	18: 58,742,237 (GRCm39)		probably null	Het
Slc35f2	G	T	9: 53,724,201 (GRCm39)	L358F	probably damaging	Het
Slc45a1	A	C	4: 150,727,762 (GRCm39)	I158M	probably damaging	Het
Slurp2	G	A	15: 74,614,955 (GRCm39)	P62L	probably damaging	Het
Sspo	C	T	6: 48,443,674 (GRCm39)	H1949Y	probably damaging	Het
Tiam1	A	T	16: 89,634,715 (GRCm39)	V865E	possibly damaging	Het
Tlr4	A	C	4: 66,757,857 (GRCm39)	I217L	probably damaging	Het
Top1	C	T	2: 160,554,628 (GRCm39)	R460*	probably null	Het
Trpm3	T	A	19: 22,965,418 (GRCm39)	S1638T	probably benign	Het
Vars1	T	G	17: 35,231,703 (GRCm39)		probably null	Het
Xylt2	A	G	11: 94,557,159 (GRCm39)	Y111H	probably benign	Het
Zbed5	G	A	5: 129,930,567 (GRCm39)	G172D	probably damaging	Het
Zfp53	C	T	17: 21,729,095 (GRCm39)	T376I	probably benign	Het
Zfp937	G	T	2: 150,081,466 (GRCm39)	V499L	probably benign	Het
Zyx	T	A	6: 42,328,247 (GRCm39)	L152Q	probably damaging	Het

Other mutations in Tubgcp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Tubgcp5	APN	7	55,456,343 (GRCm39)	missense	possibly damaging	0.91
IGL01291:Tubgcp5	APN	7	55,458,277 (GRCm39)	missense	possibly damaging	0.83
IGL01343:Tubgcp5	APN	7	55,445,779 (GRCm39)	splice site	probably benign
IGL01597:Tubgcp5	APN	7	55,456,580 (GRCm39)	splice site	probably benign
IGL01688:Tubgcp5	APN	7	55,464,766 (GRCm39)	missense	possibly damaging	0.92
IGL01843:Tubgcp5	APN	7	55,449,221 (GRCm39)	missense	probably benign	0.02
IGL01950:Tubgcp5	APN	7	55,455,836 (GRCm39)	missense	possibly damaging	0.93
IGL01957:Tubgcp5	APN	7	55,468,505 (GRCm39)	missense	probably damaging	1.00
IGL02902:Tubgcp5	APN	7	55,456,355 (GRCm39)	nonsense	probably null
IGL03105:Tubgcp5	APN	7	55,475,329 (GRCm39)	missense	probably damaging	1.00
ANU05:Tubgcp5	UTSW	7	55,458,277 (GRCm39)	missense	possibly damaging	0.83
R0078:Tubgcp5	UTSW	7	55,468,643 (GRCm39)	missense	probably damaging	1.00
R0322:Tubgcp5	UTSW	7	55,464,726 (GRCm39)	missense	probably damaging	0.98
R0362:Tubgcp5	UTSW	7	55,450,432 (GRCm39)	missense	probably damaging	1.00
R0488:Tubgcp5	UTSW	7	55,479,086 (GRCm39)	missense	probably damaging	0.96
R0853:Tubgcp5	UTSW	7	55,464,599 (GRCm39)	splice site	probably benign
R0885:Tubgcp5	UTSW	7	55,455,803 (GRCm39)	nonsense	probably null
R1483:Tubgcp5	UTSW	7	55,475,455 (GRCm39)	critical splice donor site	probably null
R1746:Tubgcp5	UTSW	7	55,458,285 (GRCm39)	missense	probably benign	0.05
R1766:Tubgcp5	UTSW	7	55,464,768 (GRCm39)	missense	probably benign	0.15
R2148:Tubgcp5	UTSW	7	55,449,259 (GRCm39)	missense	probably damaging	1.00
R2229:Tubgcp5	UTSW	7	55,480,629 (GRCm39)	missense	probably damaging	1.00
R3766:Tubgcp5	UTSW	7	55,480,614 (GRCm39)	missense	probably damaging	0.98
R4154:Tubgcp5	UTSW	7	55,455,077 (GRCm39)	missense	probably benign	0.01
R4838:Tubgcp5	UTSW	7	55,443,933 (GRCm39)	unclassified	probably benign
R4948:Tubgcp5	UTSW	7	55,455,871 (GRCm39)	missense	probably benign	0.00
R5110:Tubgcp5	UTSW	7	55,458,385 (GRCm39)	missense	probably damaging	0.96
R5347:Tubgcp5	UTSW	7	55,473,433 (GRCm39)	missense	probably damaging	1.00
R5417:Tubgcp5	UTSW	7	55,475,409 (GRCm39)	missense	possibly damaging	0.90
R5574:Tubgcp5	UTSW	7	55,455,077 (GRCm39)	missense	probably benign	0.01
R5758:Tubgcp5	UTSW	7	55,468,643 (GRCm39)	missense	probably damaging	1.00
R5957:Tubgcp5	UTSW	7	55,464,710 (GRCm39)	missense	probably benign	0.03
R6014:Tubgcp5	UTSW	7	55,473,357 (GRCm39)	missense	probably benign
R6141:Tubgcp5	UTSW	7	55,456,526 (GRCm39)	missense	probably benign	0.30
R6289:Tubgcp5	UTSW	7	55,445,671 (GRCm39)	missense	probably benign	0.05
R6511:Tubgcp5	UTSW	7	55,467,140 (GRCm39)	nonsense	probably null
R6563:Tubgcp5	UTSW	7	55,475,409 (GRCm39)	missense	possibly damaging	0.90
R6574:Tubgcp5	UTSW	7	55,473,331 (GRCm39)	missense	probably benign
R6596:Tubgcp5	UTSW	7	55,456,382 (GRCm39)	missense	probably benign	0.38
R7016:Tubgcp5	UTSW	7	55,443,977 (GRCm39)	missense	possibly damaging	0.76
R7038:Tubgcp5	UTSW	7	55,455,114 (GRCm39)	missense	probably damaging	0.99
R7075:Tubgcp5	UTSW	7	55,479,155 (GRCm39)	missense	probably benign	0.04
R7083:Tubgcp5	UTSW	7	55,450,443 (GRCm39)	nonsense	probably null
R7213:Tubgcp5	UTSW	7	55,455,860 (GRCm39)	missense	probably damaging	0.97
R7284:Tubgcp5	UTSW	7	55,473,315 (GRCm39)	missense	probably benign
R7600:Tubgcp5	UTSW	7	55,458,261 (GRCm39)	missense	probably benign
R7813:Tubgcp5	UTSW	7	55,450,444 (GRCm39)	missense	possibly damaging	0.49
R7920:Tubgcp5	UTSW	7	55,466,310 (GRCm39)	missense	probably benign	0.00
R7948:Tubgcp5	UTSW	7	55,443,996 (GRCm39)	missense	probably benign	0.01
R8438:Tubgcp5	UTSW	7	55,454,363 (GRCm39)	missense	possibly damaging	0.67
R8499:Tubgcp5	UTSW	7	55,454,363 (GRCm39)	missense	possibly damaging	0.67
R9087:Tubgcp5	UTSW	7	55,467,106 (GRCm39)	missense	probably damaging	1.00
R9211:Tubgcp5	UTSW	7	55,456,331 (GRCm39)	missense	probably benign	0.05
R9269:Tubgcp5	UTSW	7	55,445,693 (GRCm39)	missense	possibly damaging	0.94
R9329:Tubgcp5	UTSW	7	55,479,181 (GRCm39)	critical splice donor site	probably null
R9355:Tubgcp5	UTSW	7	55,467,177 (GRCm39)	critical splice donor site	probably null
R9498:Tubgcp5	UTSW	7	55,463,233 (GRCm39)	missense	possibly damaging	0.46
R9687:Tubgcp5	UTSW	7	55,475,327 (GRCm39)	critical splice acceptor site	probably null
Z1088:Tubgcp5	UTSW	7	55,464,849 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTTTAGTGAAGGTCTGACCGGGA -3'
(R):5'- GACGGATGGGCAGATACCAACC -3'

Sequencing Primer
(F):5'- tcttccctgtgtctcccc -3'
(R):5'- GGCAGATACCAACCCTGGTC -3'

Posted On

2013-05-23