Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Tbc1d31'

577936

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d31

Ensembl Gene

ENSMUSG00000022364

Gene Name

TBC1 domain family, member 31

Synonyms

Wdr67, LOC210544, D330013L20Rik

MMRRC Submission

045527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57775595-57833463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57814391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 531 (F531I)

Ref Sequence

ENSEMBL: ENSMUSP00000022992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022992]

AlphaFold

Q6NXY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022992
AA Change: F531I

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

SMART Domains

Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: F531I

Domain	Start	End	E-Value	Type
WD40	39	70	3.3e1	SMART
WD40	72	112	7.64e1	SMART
WD40	115	153	1.42e-4	SMART
WD40	156	196	1.03e1	SMART
WD40	199	242	6.6e1	SMART
Blast:WD40	245	292	8e-23	BLAST
WD40	295	334	2.48e0	SMART
Pfam:RabGAP-TBC	427	619	9.5e-11	PFAM
coiled coil region	699	844	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	974	985	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,309 (GRCm39)	S32P	possibly damaging	Het
Acaca	T	C	11: 84,136,136 (GRCm39)	V497A	probably benign	Het
Acox1	T	C	11: 116,071,787 (GRCm39)	T214A	probably benign	Het
Adgrb2	G	A	4: 129,908,430 (GRCm39)		probably null	Het
Adh1	G	A	3: 137,995,702 (GRCm39)		probably null	Het
Angptl1	G	T	1: 156,672,421 (GRCm39)	M82I	probably benign	Het
Arg1	A	G	10: 24,791,674 (GRCm39)	L269P	probably damaging	Het
Arid2	T	G	15: 96,268,605 (GRCm39)	V906G	probably benign	Het
Arid5b	A	T	10: 68,078,994 (GRCm39)	H114Q	probably benign	Het
Atad5	T	C	11: 80,009,969 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,729,493 (GRCm39)		probably null	Het
B230104I21Rik	A	T	4: 154,432,185 (GRCm39)	T44S	unknown	Het
BC024063	G	A	10: 81,945,991 (GRCm39)	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,330,306 (GRCm39)	L177Q	probably damaging	Het
Birc5	C	A	11: 117,743,507 (GRCm39)	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,106,615 (GRCm39)	L382P	probably damaging	Het
Ces2c	A	T	8: 105,576,302 (GRCm39)	N105I	probably benign	Het
Cfap91	A	G	16: 38,141,841 (GRCm39)	S364P	possibly damaging	Het
Cflar	G	A	1: 58,792,956 (GRCm39)	V441M		Het
Ckap4	A	G	10: 84,364,463 (GRCm39)	V200A	probably damaging	Het
Clec16a	C	A	16: 10,462,686 (GRCm39)	T668N	probably damaging	Het
Cntrl	A	C	2: 35,045,421 (GRCm39)	E1376D	possibly damaging	Het
Col18a1	A	T	10: 76,921,044 (GRCm39)		probably null	Het
Coq2	T	C	5: 100,811,452 (GRCm39)	Y179C	probably benign	Het
Cpne6	A	G	14: 55,749,473 (GRCm39)	E11G	probably benign	Het
Cr2	A	C	1: 194,847,565 (GRCm39)		probably null	Het
Csf2rb2	C	T	15: 78,169,491 (GRCm39)	D555N	probably benign	Het
Cyp2j12	A	T	4: 95,990,363 (GRCm39)	V401D	possibly damaging	Het
Dbp	C	T	7: 45,355,127 (GRCm39)	A27V	probably benign	Het
Dll1	C	A	17: 15,595,151 (GRCm39)	R42L	probably benign	Het
Dst	C	A	1: 34,230,439 (GRCm39)	H2677Q	possibly damaging	Het
Efl1	G	T	7: 82,330,675 (GRCm39)	V283F	possibly damaging	Het
Enah	C	T	1: 181,789,470 (GRCm39)	C7Y	unknown	Het
Fam193a	A	T	5: 34,621,460 (GRCm39)	E1139V	possibly damaging	Het
Fbn1	G	A	2: 125,162,879 (GRCm39)	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,485,927 (GRCm39)	V91A	probably damaging	Het
Fn1	T	A	1: 71,630,039 (GRCm39)	D2343V	probably damaging	Het
Galk2	T	C	2: 125,729,781 (GRCm39)	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,179,350 (GRCm39)	Y193F	probably damaging	Het
Gm45861	G	T	8: 28,031,686 (GRCm39)	R867L	unknown	Het
Grin2b	T	C	6: 135,717,947 (GRCm39)	D715G	possibly damaging	Het
Hltf	A	T	3: 20,136,916 (GRCm39)	R384S	possibly damaging	Het
Hs3st1	A	G	5: 39,772,310 (GRCm39)	M111T	probably damaging	Het
Idua	A	G	5: 108,829,362 (GRCm39)	T388A	probably benign	Het
Kat14	T	C	2: 144,222,654 (GRCm39)	S136P	possibly damaging	Het
Kif24	A	C	4: 41,394,673 (GRCm39)	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,989 (GRCm39)		probably null	Het
Klra10	A	G	6: 130,257,327 (GRCm39)	V59A	probably damaging	Het
Limk1	T	A	5: 134,698,091 (GRCm39)	I223F	probably damaging	Het
Lrp10	G	A	14: 54,705,913 (GRCm39)	G368S	probably damaging	Het
Lrrc7	T	C	3: 157,891,046 (GRCm39)	R374G	probably benign	Het
Lypd1	T	A	1: 125,801,303 (GRCm39)	M66L	probably benign	Het
Mast4	C	T	13: 102,941,149 (GRCm39)		probably null	Het
Mbp	C	T	18: 82,572,768 (GRCm39)	H155Y	probably damaging	Het
Micu3	G	A	8: 40,788,939 (GRCm39)	C150Y	probably benign	Het
Mras	C	T	9: 99,271,793 (GRCm39)	V174I	probably benign	Het
Mroh1	T	A	15: 76,317,745 (GRCm39)	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,203,026 (GRCm39)	G101*	probably null	Het
Mylk2	A	T	2: 152,754,353 (GRCm39)	K149M	probably damaging	Het
Myom3	T	A	4: 135,528,346 (GRCm39)	L1064I	probably damaging	Het
Naa30	A	G	14: 49,425,144 (GRCm39)	*365W	probably null	Het
Ncoa1	C	T	12: 4,309,307 (GRCm39)	G1330R	probably damaging	Het
Nhlh1	T	A	1: 171,881,846 (GRCm39)	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882 (GRCm39)	Q110R	probably benign	Het
Nostrin	T	C	2: 69,014,240 (GRCm39)	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,351,431 (GRCm39)	T263K	possibly damaging	Het
Nup153	T	C	13: 46,834,657 (GRCm39)	T1456A	probably damaging	Het
Or14j10	G	T	17: 37,935,276 (GRCm39)	D83E	probably benign	Het
Or1o2	T	C	17: 37,542,871 (GRCm39)	Y130C	probably damaging	Het
Or51e1	T	A	7: 102,358,724 (GRCm39)	I86N	probably damaging	Het
Or52z1	T	A	7: 103,436,879 (GRCm39)	I202F	possibly damaging	Het
Or5g26	T	A	2: 85,494,524 (GRCm39)	M85L	probably benign	Het
Or8d1b	A	T	9: 38,887,500 (GRCm39)	H176L	probably damaging	Het
Pan3	G	A	5: 147,463,491 (GRCm39)		probably null	Het
Pcdhgb2	C	T	18: 37,824,068 (GRCm39)	T353I	probably damaging	Het
Pcif1	A	T	2: 164,730,284 (GRCm39)	H339L	probably damaging	Het
Pcif1	A	G	2: 164,731,550 (GRCm39)	H501R	possibly damaging	Het
Pcnt	T	C	10: 76,225,284 (GRCm39)	H1740R	probably benign	Het
Polr1b	T	A	2: 128,967,583 (GRCm39)	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,763,691 (GRCm39)	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,509,116 (GRCm39)	F388L	probably damaging	Het
Ptpre	G	T	7: 135,139,803 (GRCm39)	R4L	unknown	Het
Pzp	G	T	6: 128,463,879 (GRCm39)	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,433,675 (GRCm39)	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,808,486 (GRCm39)	P481S	probably damaging	Het
Rgs9	T	A	11: 109,118,094 (GRCm39)	R579W	probably damaging	Het
Rhot1	T	C	11: 80,139,366 (GRCm39)		probably null	Het
Rnf123	T	A	9: 107,947,607 (GRCm39)		probably null	Het
Rreb1	T	G	13: 38,125,545 (GRCm39)	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,785,289 (GRCm39)	E400G	probably benign	Het
Rufy4	T	A	1: 74,168,493 (GRCm39)		probably null	Het
S100pbp	A	G	4: 129,075,878 (GRCm39)	L149P	probably damaging	Het
Sall3	T	C	18: 81,015,255 (GRCm39)	D891G	probably benign	Het
Scn10a	C	T	9: 119,467,618 (GRCm39)	V841I	probably benign	Het
Scn5a	T	A	9: 119,351,656 (GRCm39)	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,863,945 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,583 (GRCm39)	M108K	unknown	Het
Spata22	T	A	11: 73,226,816 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,208,633 (GRCm39)	H387R	probably damaging	Het
Stk4	A	G	2: 163,928,522 (GRCm39)	N118S	probably benign	Het
Stt3a	A	T	9: 36,659,266 (GRCm39)	S358T	possibly damaging	Het
Tfrc	A	G	16: 32,437,867 (GRCm39)	T307A	probably damaging	Het
Tnpo2	T	C	8: 85,781,651 (GRCm39)	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,853 (GRCm39)	Y230C	probably damaging	Het
Ttll13	A	G	7: 79,910,182 (GRCm39)	D775G	probably benign	Het
Ttn	T	C	2: 76,775,273 (GRCm39)	K1969R	unknown	Het
Ube2s	G	A	7: 4,813,435 (GRCm39)	R110*	probably null	Het
Ubxn11	G	A	4: 133,853,540 (GRCm39)	R364Q	probably benign	Het
Unc13d	T	C	11: 115,958,697 (GRCm39)	Q773R	probably benign	Het
Ush2a	T	C	1: 188,285,308 (GRCm39)	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,776,931 (GRCm39)	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,273,297 (GRCm39)	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,533,580 (GRCm39)	S495T	probably benign	Het
Wiz	T	A	17: 32,598,049 (GRCm39)	I102F	probably benign	Het
Zan	A	C	5: 137,464,264 (GRCm39)	L514V	probably damaging	Het
Zfp106	T	A	2: 120,341,008 (GRCm39)	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,376,400 (GRCm39)		probably null	Het
Zfp738	T	C	13: 67,818,474 (GRCm39)	T506A	probably benign	Het
Zfp934	T	C	13: 62,666,517 (GRCm39)	N53S	probably benign	Het

Other mutations in Tbc1d31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Tbc1d31	APN	15	57,804,164 (GRCm39)	missense	probably benign	0.03
IGL01955:Tbc1d31	APN	15	57,805,766 (GRCm39)	missense	probably benign	0.24
IGL02024:Tbc1d31	APN	15	57,783,338 (GRCm39)	missense	probably benign	0.10
IGL02501:Tbc1d31	APN	15	57,801,344 (GRCm39)	missense	probably benign	0.11
IGL03133:Tbc1d31	APN	15	57,805,855 (GRCm39)	splice site	probably benign
IGL03159:Tbc1d31	APN	15	57,783,444 (GRCm39)	critical splice donor site	probably null
new_age	UTSW	15	57,815,102 (GRCm39)	missense	probably damaging	1.00
PIT4354001:Tbc1d31	UTSW	15	57,831,329 (GRCm39)	missense	probably benign	0.09
R0239:Tbc1d31	UTSW	15	57,804,149 (GRCm39)	missense	probably benign	0.14
R0239:Tbc1d31	UTSW	15	57,804,149 (GRCm39)	missense	probably benign	0.14
R0375:Tbc1d31	UTSW	15	57,818,746 (GRCm39)	missense	probably benign
R0478:Tbc1d31	UTSW	15	57,795,932 (GRCm39)	missense	probably damaging	1.00
R0576:Tbc1d31	UTSW	15	57,833,120 (GRCm39)	missense	possibly damaging	0.79
R1328:Tbc1d31	UTSW	15	57,805,859 (GRCm39)	splice site	probably benign
R1454:Tbc1d31	UTSW	15	57,815,034 (GRCm39)	nonsense	probably null
R1784:Tbc1d31	UTSW	15	57,827,316 (GRCm39)	missense	possibly damaging	0.86
R1874:Tbc1d31	UTSW	15	57,779,506 (GRCm39)	missense	probably benign	0.41
R1920:Tbc1d31	UTSW	15	57,775,760 (GRCm39)	missense	probably damaging	1.00
R2111:Tbc1d31	UTSW	15	57,796,040 (GRCm39)	missense	probably benign	0.05
R2174:Tbc1d31	UTSW	15	57,815,137 (GRCm39)	missense	possibly damaging	0.95
R2205:Tbc1d31	UTSW	15	57,816,916 (GRCm39)	missense	probably benign	0.11
R3683:Tbc1d31	UTSW	15	57,815,210 (GRCm39)	critical splice donor site	probably null
R3825:Tbc1d31	UTSW	15	57,779,474 (GRCm39)	missense	probably benign	0.43
R4407:Tbc1d31	UTSW	15	57,783,438 (GRCm39)	missense	possibly damaging	0.93
R4627:Tbc1d31	UTSW	15	57,831,308 (GRCm39)	missense	probably benign
R4792:Tbc1d31	UTSW	15	57,804,124 (GRCm39)	missense	probably benign	0.03
R4804:Tbc1d31	UTSW	15	57,814,502 (GRCm39)	nonsense	probably null
R4909:Tbc1d31	UTSW	15	57,825,661 (GRCm39)	critical splice donor site	probably null
R5077:Tbc1d31	UTSW	15	57,818,797 (GRCm39)	missense	probably benign	0.00
R5230:Tbc1d31	UTSW	15	57,824,315 (GRCm39)	missense	probably damaging	0.99
R5436:Tbc1d31	UTSW	15	57,816,267 (GRCm39)	missense	probably benign	0.04
R5652:Tbc1d31	UTSW	15	57,815,062 (GRCm39)	missense	probably damaging	1.00
R5920:Tbc1d31	UTSW	15	57,805,954 (GRCm39)	missense	probably benign	0.10
R6102:Tbc1d31	UTSW	15	57,799,489 (GRCm39)	missense	probably damaging	1.00
R6176:Tbc1d31	UTSW	15	57,816,192 (GRCm39)	missense	probably damaging	0.99
R6513:Tbc1d31	UTSW	15	57,818,778 (GRCm39)	missense	probably damaging	1.00
R6778:Tbc1d31	UTSW	15	57,801,425 (GRCm39)	missense	probably damaging	1.00
R6795:Tbc1d31	UTSW	15	57,815,102 (GRCm39)	missense	probably damaging	1.00
R7187:Tbc1d31	UTSW	15	57,801,459 (GRCm39)	missense	possibly damaging	0.95
R7308:Tbc1d31	UTSW	15	57,816,212 (GRCm39)	missense	probably damaging	1.00
R7359:Tbc1d31	UTSW	15	57,779,504 (GRCm39)	missense	probably benign	0.00
R7552:Tbc1d31	UTSW	15	57,804,136 (GRCm39)	missense	probably benign
R7606:Tbc1d31	UTSW	15	57,815,066 (GRCm39)	missense	probably damaging	1.00
R7739:Tbc1d31	UTSW	15	57,799,494 (GRCm39)	nonsense	probably null
R7782:Tbc1d31	UTSW	15	57,821,764 (GRCm39)	missense	possibly damaging	0.89
R8165:Tbc1d31	UTSW	15	57,824,345 (GRCm39)	missense	possibly damaging	0.74
R9187:Tbc1d31	UTSW	15	57,779,485 (GRCm39)	missense	probably damaging	1.00
R9558:Tbc1d31	UTSW	15	57,795,988 (GRCm39)	missense	probably damaging	0.99
R9796:Tbc1d31	UTSW	15	57,833,179 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTCCGACCCACAGTACTAAAG -3'
(R):5'- GGGACATCGTGTTTTATCCATTCAAG -3'

Sequencing Primer
(F):5'- CCAACATTACAACGTTAGGTAAGCTG -3'
(R):5'- TCCATTCAAGAATCAACCTTAGCTC -3'

Posted On

2019-10-07