Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Tbc1d22a'

351065

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d22a

Ensembl Gene

ENSMUSG00000051864

Gene Name

TBC1 domain family, member 22a

Synonyms

D15Ertd781e

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86214459-86498503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86235685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 61 (T61A)

Ref Sequence

ENSEMBL: ENSMUSP00000155727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063414] [ENSMUST00000229242]

AlphaFold

Q8R5A6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063414
AA Change: T97A

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: T97A

Domain	Start	End	E-Value	Type
Blast:TBC	25	94	5e-34	BLAST
low complexity region	118	133	N/A	INTRINSIC
TBC	218	471	2.35e-43	SMART
Blast:TBC	476	515	1e-9	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000229242
AA Change: T61A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1846

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	C	T	14: 103,055,345 (GRCm38)	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440 (GRCm38)	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947 (GRCm38)	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788 (GRCm38)		probably benign	Het
Aopep	G	A	13: 63,298,751 (GRCm38)	E123K	probably damaging	Het
Arhgef17	A	G	7: 100,882,485 (GRCm38)	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453 (GRCm38)	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988 (GRCm38)	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463 (GRCm38)	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068 (GRCm38)	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403 (GRCm38)	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883 (GRCm38)		probably null	Het
Cyp1a1	T	C	9: 57,701,756 (GRCm38)	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559 (GRCm38)	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770 (GRCm38)	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846 (GRCm38)	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872 (GRCm38)	V585A	probably benign	Het
Gm8214	T	C	1: 183,681,897 (GRCm38)		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816 (GRCm38)	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736 (GRCm38)	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897 (GRCm38)	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610 (GRCm38)	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660 (GRCm38)	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219 (GRCm38)	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035 (GRCm38)	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157 (GRCm38)	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223 (GRCm38)	N1985D	probably damaging	Het
Jkampl	A	G	6: 73,469,269 (GRCm38)	V99A	probably benign	Het
Lama3	T	C	18: 12,504,397 (GRCm38)		probably null	Het
Lamc2	T	C	1: 153,166,169 (GRCm38)	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698 (GRCm38)	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241 (GRCm38)	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509 (GRCm38)		probably benign	Het
Mplkipl1	C	T	19: 61,175,926 (GRCm38)	G24R	unknown	Het
Mrgbp	A	T	2: 180,585,314 (GRCm38)		silent	Het
Mtmr4	T	C	11: 87,610,935 (GRCm38)	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487 (GRCm38)		probably null	Het
Myo9a	T	C	9: 59,821,649 (GRCm38)	I596T	probably damaging	Het
Or2f1b	G	T	6: 42,762,418 (GRCm38)	R122L	probably benign	Het
Or52e3	C	T	7: 103,220,422 (GRCm38)	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750 (GRCm38)	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009 (GRCm38)	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620 (GRCm38)	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134 (GRCm38)	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890 (GRCm38)	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926 (GRCm38)	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294 (GRCm38)	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775 (GRCm38)	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513 (GRCm38)		probably null	Het
Slc35a5	A	T	16: 45,144,292 (GRCm38)	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561 (GRCm38)	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541 (GRCm38)	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757 (GRCm38)		noncoding transcript	Het
Stard5	G	T	7: 83,633,281 (GRCm38)		probably benign	Het
Tox2	T	C	2: 163,320,647 (GRCm38)	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120 (GRCm38)	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965 (GRCm38)	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438 (GRCm38)	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386 (GRCm38)	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067 (GRCm38)	S3556P	possibly damaging	Het

Other mutations in Tbc1d22a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Tbc1d22a	APN	15	86,301,555 (GRCm38)	missense	probably damaging	1.00
IGL01483:Tbc1d22a	APN	15	86,391,203 (GRCm38)	missense	probably benign	0.24
IGL02137:Tbc1d22a	APN	15	86,299,669 (GRCm38)	missense	probably benign	0.02
IGL02543:Tbc1d22a	APN	15	86,239,171 (GRCm38)	missense	probably benign	0.30
R0138:Tbc1d22a	UTSW	15	86,299,684 (GRCm38)	missense	probably damaging	1.00
R1168:Tbc1d22a	UTSW	15	86,292,134 (GRCm38)	missense	probably benign	0.01
R1294:Tbc1d22a	UTSW	15	86,496,826 (GRCm38)	missense	probably damaging	0.98
R1565:Tbc1d22a	UTSW	15	86,235,569 (GRCm38)	missense	possibly damaging	0.48
R1586:Tbc1d22a	UTSW	15	86,351,651 (GRCm38)	splice site	probably null
R1703:Tbc1d22a	UTSW	15	86,239,215 (GRCm38)	missense	probably benign	0.09
R1822:Tbc1d22a	UTSW	15	86,235,569 (GRCm38)	missense	possibly damaging	0.48
R1823:Tbc1d22a	UTSW	15	86,235,569 (GRCm38)	missense	possibly damaging	0.48
R1824:Tbc1d22a	UTSW	15	86,235,569 (GRCm38)	missense	possibly damaging	0.48
R1925:Tbc1d22a	UTSW	15	86,239,149 (GRCm38)	missense	probably damaging	1.00
R2014:Tbc1d22a	UTSW	15	86,299,684 (GRCm38)	missense	probably damaging	0.99
R2015:Tbc1d22a	UTSW	15	86,299,684 (GRCm38)	missense	probably damaging	0.99
R2035:Tbc1d22a	UTSW	15	86,391,065 (GRCm38)	splice site	probably null
R4380:Tbc1d22a	UTSW	15	86,351,734 (GRCm38)	missense	probably damaging	1.00
R4690:Tbc1d22a	UTSW	15	86,311,836 (GRCm38)	missense	probably damaging	1.00
R4825:Tbc1d22a	UTSW	15	86,351,734 (GRCm38)	missense	probably damaging	1.00
R4883:Tbc1d22a	UTSW	15	86,496,916 (GRCm38)	missense	possibly damaging	0.91
R4920:Tbc1d22a	UTSW	15	86,311,748 (GRCm38)	missense	probably benign	0.20
R4979:Tbc1d22a	UTSW	15	86,391,086 (GRCm38)	missense	probably damaging	1.00
R5913:Tbc1d22a	UTSW	15	86,351,728 (GRCm38)	missense	probably damaging	0.98
R5916:Tbc1d22a	UTSW	15	86,214,608 (GRCm38)	missense	possibly damaging	0.57
R6360:Tbc1d22a	UTSW	15	86,214,629 (GRCm38)	missense	probably damaging	1.00
R6483:Tbc1d22a	UTSW	15	86,301,567 (GRCm38)	missense	possibly damaging	0.48
R7138:Tbc1d22a	UTSW	15	86,239,155 (GRCm38)	missense	probably benign	0.07
R7294:Tbc1d22a	UTSW	15	86,311,835 (GRCm38)	missense	possibly damaging	0.90
R7645:Tbc1d22a	UTSW	15	86,235,541 (GRCm38)	missense	probably benign	0.01
R7704:Tbc1d22a	UTSW	15	86,366,675 (GRCm38)	missense	probably damaging	1.00
R9204:Tbc1d22a	UTSW	15	86,214,602 (GRCm38)	missense	probably benign	0.15
R9370:Tbc1d22a	UTSW	15	86,239,240 (GRCm38)	missense	probably benign	0.00
R9459:Tbc1d22a	UTSW	15	86,235,820 (GRCm38)	missense	possibly damaging	0.57
R9792:Tbc1d22a	UTSW	15	86,235,638 (GRCm38)	missense	probably damaging	0.99
R9793:Tbc1d22a	UTSW	15	86,235,638 (GRCm38)	missense	probably damaging	0.99
RF013:Tbc1d22a	UTSW	15	86,299,774 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAGTACCTTCTCCCTTGGG -3'
(R):5'- CATCCCTACCTGAAGGACAAGG -3'

Sequencing Primer
(F):5'- GTGTGCACAGTAAAGACACCTTTG -3'
(R):5'- AAGGAGTGTGGCTCTCACTGAC -3'

Posted On

2015-10-08