Mutagenetix > Incidental Mutation

Incidental Mutation 'R7308:Tbc1d31'

567416

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d31

Ensembl Gene

ENSMUSG00000022364

Gene Name

TBC1 domain family, member 31

Synonyms

LOC210544, Wdr67, D330013L20Rik

MMRRC Submission

045323-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57912199-57970067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57952816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 649 (L649F)

Ref Sequence

ENSEMBL: ENSMUSP00000022992 (fasta)

Gene Model

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

AlphaFold

Q6NXY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022992
AA Change: L649F

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

SMART Domains

Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: L649F

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: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,423,770 (GRCm38)	I43T	probably benign	Het
Ankar	G	A	1: 72,651,794 (GRCm38)	Q1175*	probably null	Het
Aqr	G	A	2: 114,104,062 (GRCm38)	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 80,026,558 (GRCm38)		probably null	Het
Atf7ip	T	A	6: 136,565,089 (GRCm38)	M607K	probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,888,169 (GRCm38)		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,888,152 (GRCm38)		probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136 (GRCm38)		probably benign	Het
Bcar3	T	A	3: 122,508,493 (GRCm38)	V279E	probably benign	Het
Cd96	C	T	16: 46,071,734 (GRCm38)		probably null	Het
Cdca2	G	A	14: 67,694,991 (GRCm38)	P488S	probably benign	Het
Col4a2	T	G	8: 11,406,856 (GRCm38)		probably null	Het
Cyp4a12a	A	G	4: 115,327,758 (GRCm38)	R379G	possibly damaging	Het
Defb34	A	G	8: 19,126,379 (GRCm38)	S29G	probably benign	Het
Dnah11	A	G	12: 117,995,275 (GRCm38)	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,665,162 (GRCm38)	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,151,866 (GRCm38)	H84L	probably benign	Het
Enah	A	T	1: 181,906,385 (GRCm38)		probably null	Het
Fam178b	G	T	1: 36,659,407 (GRCm38)	Q78K	probably benign	Het
Glb1	A	G	9: 114,473,863 (GRCm38)	N589S	probably damaging	Het
Gm1527	C	T	3: 28,902,280 (GRCm38)	H132Y	probably benign	Het
Gm4788	A	G	1: 139,754,303 (GRCm38)	V185A	possibly damaging	Het
Gm4858	A	G	3: 93,074,565 (GRCm38)	T223A	probably benign	Het
Gm5799	A	G	14: 43,543,707 (GRCm38)	R22G	possibly damaging	Het
Grip2	T	C	6: 91,778,688 (GRCm38)	D617G	possibly damaging	Het
Hax1	A	T	3: 89,998,566 (GRCm38)	D5E	possibly damaging	Het
Hic1	A	G	11: 75,167,151 (GRCm38)	L304P	probably damaging	Het
Hmox1	T	A	8: 75,097,019 (GRCm38)	I105N	probably damaging	Het
Hormad1	T	C	3: 95,562,555 (GRCm38)	S38P	probably damaging	Het
Hspa4	A	G	11: 53,267,103 (GRCm38)	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,174,729 (GRCm38)	H497L	probably benign	Het
Kcnma1	C	T	14: 23,330,935 (GRCm38)	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,900,463 (GRCm38)	F479S	possibly damaging	Het
Krba1	T	C	6: 48,406,339 (GRCm38)	V203A	probably benign	Het
Lct	G	T	1: 128,319,087 (GRCm38)	P233Q	probably benign	Het
Ly75	T	C	2: 60,334,515 (GRCm38)	D773G	probably benign	Het
Malt1	T	C	18: 65,449,609 (GRCm38)		probably null	Het
Man1a2	A	T	3: 100,620,105 (GRCm38)	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,082,928 (GRCm38)	T584A	probably benign	Het
Myof	A	T	19: 37,910,911 (GRCm38)	S1800R	probably damaging	Het
Nbea	A	C	3: 56,091,031 (GRCm38)	C118W	probably damaging	Het
Nsd3	A	T	8: 25,640,724 (GRCm38)	D35V	probably damaging	Het
Olfr1386	G	A	11: 49,469,927 (GRCm38)		probably benign	Het
Olfr739	G	A	14: 50,425,265 (GRCm38)	V249I	possibly damaging	Het
Pcnx3	C	T	19: 5,686,147 (GRCm38)	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,323,173 (GRCm38)	P462L	probably benign	Het
Pdia5	T	G	16: 35,456,509 (GRCm38)	K96N	probably damaging	Het
Pik3c2a	T	C	7: 116,373,839 (GRCm38)	Y707C	probably damaging	Het
Ppig	A	T	2: 69,749,462 (GRCm38)	N447Y	unknown	Het
Ppp1r9b	T	C	11: 95,004,571 (GRCm38)	L695P	possibly damaging	Het
Proser1	C	T	3: 53,478,704 (GRCm38)	A669V	probably benign	Het
Rdx	A	T	9: 52,068,870 (GRCm38)	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,798,010 (GRCm38)	S95P	probably benign	Het
Slc4a3	T	A	1: 75,557,362 (GRCm38)	S1118T	probably benign	Het
Slf1	G	A	13: 77,051,168 (GRCm38)	P698L	probably benign	Het
Sptbn2	A	G	19: 4,751,574 (GRCm38)	E2338G	probably benign	Het
Taok3	T	A	5: 117,200,151 (GRCm38)	Y91*	probably null	Het
Tmem132b	A	T	5: 125,787,646 (GRCm38)	I939F	possibly damaging	Het
Trav17	T	A	14: 53,806,979 (GRCm38)	Y69N	probably benign	Het
Trmt13	T	C	3: 116,594,739 (GRCm38)	D16G	probably benign	Het
Upf2	T	A	2: 5,973,518 (GRCm38)	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875 (GRCm38)	T180A	probably benign	Het
Wdyhv1	T	C	15: 58,152,610 (GRCm38)	V85A	possibly damaging	Het
Zfp738	A	T	13: 67,669,553 (GRCm38)	I773N	probably benign	Het
Zscan4e	A	T	7: 11,307,153 (GRCm38)	M264K	probably benign	Het

Other mutations in Tbc1d31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Tbc1d31	APN	15	57,940,768 (GRCm38)	missense	probably benign	0.03
IGL01955:Tbc1d31	APN	15	57,942,370 (GRCm38)	missense	probably benign	0.24
IGL02024:Tbc1d31	APN	15	57,919,942 (GRCm38)	missense	probably benign	0.10
IGL02501:Tbc1d31	APN	15	57,937,948 (GRCm38)	missense	probably benign	0.11
IGL03133:Tbc1d31	APN	15	57,942,459 (GRCm38)	splice site	probably benign
IGL03159:Tbc1d31	APN	15	57,920,048 (GRCm38)	critical splice donor site	probably null
new_age	UTSW	15	57,951,706 (GRCm38)	missense	probably damaging	1.00
PIT4354001:Tbc1d31	UTSW	15	57,967,933 (GRCm38)	missense	probably benign	0.09
R0239:Tbc1d31	UTSW	15	57,940,753 (GRCm38)	missense	probably benign	0.14
R0239:Tbc1d31	UTSW	15	57,940,753 (GRCm38)	missense	probably benign	0.14
R0375:Tbc1d31	UTSW	15	57,955,350 (GRCm38)	missense	probably benign
R0478:Tbc1d31	UTSW	15	57,932,536 (GRCm38)	missense	probably damaging	1.00
R0576:Tbc1d31	UTSW	15	57,969,724 (GRCm38)	missense	possibly damaging	0.79
R1328:Tbc1d31	UTSW	15	57,942,463 (GRCm38)	splice site	probably benign
R1454:Tbc1d31	UTSW	15	57,951,638 (GRCm38)	nonsense	probably null
R1784:Tbc1d31	UTSW	15	57,963,920 (GRCm38)	missense	possibly damaging	0.86
R1874:Tbc1d31	UTSW	15	57,916,110 (GRCm38)	missense	probably benign	0.41
R1920:Tbc1d31	UTSW	15	57,912,364 (GRCm38)	missense	probably damaging	1.00
R2111:Tbc1d31	UTSW	15	57,932,644 (GRCm38)	missense	probably benign	0.05
R2174:Tbc1d31	UTSW	15	57,951,741 (GRCm38)	missense	possibly damaging	0.95
R2205:Tbc1d31	UTSW	15	57,953,520 (GRCm38)	missense	probably benign	0.11
R3683:Tbc1d31	UTSW	15	57,951,814 (GRCm38)	critical splice donor site	probably null
R3825:Tbc1d31	UTSW	15	57,916,078 (GRCm38)	missense	probably benign	0.43
R4407:Tbc1d31	UTSW	15	57,920,042 (GRCm38)	missense	possibly damaging	0.93
R4627:Tbc1d31	UTSW	15	57,967,912 (GRCm38)	missense	probably benign
R4792:Tbc1d31	UTSW	15	57,940,728 (GRCm38)	missense	probably benign	0.03
R4804:Tbc1d31	UTSW	15	57,951,106 (GRCm38)	nonsense	probably null
R4909:Tbc1d31	UTSW	15	57,962,265 (GRCm38)	critical splice donor site	probably null
R5077:Tbc1d31	UTSW	15	57,955,401 (GRCm38)	missense	probably benign	0.00
R5230:Tbc1d31	UTSW	15	57,960,919 (GRCm38)	missense	probably damaging	0.99
R5436:Tbc1d31	UTSW	15	57,952,871 (GRCm38)	missense	probably benign	0.04
R5652:Tbc1d31	UTSW	15	57,951,666 (GRCm38)	missense	probably damaging	1.00
R5920:Tbc1d31	UTSW	15	57,942,558 (GRCm38)	missense	probably benign	0.10
R6102:Tbc1d31	UTSW	15	57,936,093 (GRCm38)	missense	probably damaging	1.00
R6176:Tbc1d31	UTSW	15	57,952,796 (GRCm38)	missense	probably damaging	0.99
R6513:Tbc1d31	UTSW	15	57,955,382 (GRCm38)	missense	probably damaging	1.00
R6778:Tbc1d31	UTSW	15	57,938,029 (GRCm38)	missense	probably damaging	1.00
R6795:Tbc1d31	UTSW	15	57,951,706 (GRCm38)	missense	probably damaging	1.00
R7187:Tbc1d31	UTSW	15	57,938,063 (GRCm38)	missense	possibly damaging	0.95
R7359:Tbc1d31	UTSW	15	57,916,108 (GRCm38)	missense	probably benign	0.00
R7453:Tbc1d31	UTSW	15	57,950,995 (GRCm38)	missense	probably damaging	1.00
R7552:Tbc1d31	UTSW	15	57,940,740 (GRCm38)	missense	probably benign
R7606:Tbc1d31	UTSW	15	57,951,670 (GRCm38)	missense	probably damaging	1.00
R7739:Tbc1d31	UTSW	15	57,936,098 (GRCm38)	nonsense	probably null
R7782:Tbc1d31	UTSW	15	57,958,368 (GRCm38)	missense	possibly damaging	0.89
R8165:Tbc1d31	UTSW	15	57,960,949 (GRCm38)	missense	possibly damaging	0.74
R9187:Tbc1d31	UTSW	15	57,916,089 (GRCm38)	missense	probably damaging	1.00
R9558:Tbc1d31	UTSW	15	57,932,592 (GRCm38)	missense	probably damaging	0.99
R9796:Tbc1d31	UTSW	15	57,969,783 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGTCAGTTGCTCTGTTTCC -3'
(R):5'- TAATGTCCCACTCTTTGAAGAACG -3'

Sequencing Primer
(F):5'- CCCTTCCCTAGCATGTGTG -3'
(R):5'- CCCACTCTTTGAAGAACGATTATTC -3'

Posted On

2019-06-26