Mutagenetix > Incidental Mutation

Incidental Mutation 'R4792:Tbc1d31'

368714

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d31

Ensembl Gene

ENSMUSG00000022364

Gene Name

TBC1 domain family, member 31

Synonyms

Wdr67, LOC210544, D330013L20Rik

MMRRC Submission

042419-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4792 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57775595-57833463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57804124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 380 (R380G)

Ref Sequence

ENSEMBL: ENSMUSP00000022992 (fasta)

Gene Model

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

AlphaFold

Q6NXY1

Predicted Effect

probably benign
Transcript: ENSMUST00000022992
AA Change: R380G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: R380G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162157

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	G	16: 88,504,651 (GRCm39)	S49P	possibly damaging	Het
Abcb1a	T	C	5: 8,796,657 (GRCm39)		probably null	Het
Adgb	G	A	10: 10,274,647 (GRCm39)	T770I	probably damaging	Het
Adgre4	A	T	17: 56,098,491 (GRCm39)	T134S	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Alox5	C	A	6: 116,437,964 (GRCm39)	V8L	possibly damaging	Het
Ambra1	A	G	2: 91,603,191 (GRCm39)	T392A	possibly damaging	Het
Apob	A	G	12: 8,058,051 (GRCm39)	I2145V	probably benign	Het
Arhgap39	A	G	15: 76,625,717 (GRCm39)	Y196H	possibly damaging	Het
Armh2	A	G	13: 24,930,490 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,251,173 (GRCm39)	L439S	probably damaging	Het
Carmil1	A	T	13: 24,325,659 (GRCm39)	S224T	possibly damaging	Het
Cfh	G	A	1: 140,028,561 (GRCm39)	Q706*	probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Chrna5	A	T	9: 54,911,985 (GRCm39)	I158F	probably damaging	Het
Cilk1	A	G	9: 78,060,975 (GRCm39)	D207G	probably damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cul7	T	A	17: 46,967,976 (GRCm39)	Y423*	probably null	Het
Cyp2e1	T	C	7: 140,353,588 (GRCm39)	Y342H	probably benign	Het
D630045J12Rik	T	C	6: 38,125,275 (GRCm39)	K1580E	probably damaging	Het
Dnah6	A	G	6: 73,066,651 (GRCm39)	M2573T	probably damaging	Het
Dnai4	T	C	4: 102,929,881 (GRCm39)	K370R	possibly damaging	Het
Edem1	T	A	6: 108,805,707 (GRCm39)		probably benign	Het
Erp29	C	T	5: 121,585,237 (GRCm39)	E86K	probably benign	Het
Esrp2	C	A	8: 106,859,141 (GRCm39)	R535L	probably damaging	Het
Gabrb2	C	T	11: 42,420,330 (GRCm39)		probably benign	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Herc1	T	A	9: 66,403,266 (GRCm39)	V4395E	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgb2	G	A	8: 57,966,344 (GRCm39)	C106Y	probably damaging	Het
Hoxa10	T	C	6: 52,209,481 (GRCm39)		probably benign	Het
Hsd3b1	T	A	3: 98,760,226 (GRCm39)	Y255F	probably benign	Het
Ighd	T	C	12: 113,379,819 (GRCm39)	K42E	probably benign	Het
Ighv1-26	T	C	12: 114,752,191 (GRCm39)	Y51C	possibly damaging	Het
Ighv5-2	C	T	12: 113,542,419 (GRCm39)	E19K	possibly damaging	Het
Ipo11	T	C	13: 106,970,668 (GRCm39)		probably benign	Het
Itk	C	T	11: 46,235,658 (GRCm39)		probably benign	Het
Kat6a	T	A	8: 23,430,592 (GRCm39)	H1982Q	unknown	Het
Kdm4d	C	T	9: 14,374,686 (GRCm39)	V391I	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgr6	T	A	1: 134,949,544 (GRCm39)	S229C	probably benign	Het
Lhx9	T	A	1: 138,766,089 (GRCm39)	Y233F	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mapk4	T	C	18: 74,070,321 (GRCm39)	T191A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naglu	C	T	11: 100,961,932 (GRCm39)	T135M	probably damaging	Het
Nomo1	T	A	7: 45,693,643 (GRCm39)		probably null	Het
Nop56	T	A	2: 130,119,784 (GRCm39)	V75E	possibly damaging	Het
Nr1i3	G	A	1: 171,046,164 (GRCm39)	C283Y	probably damaging	Het
Or4x6	T	A	2: 89,949,174 (GRCm39)	Y256F	possibly damaging	Het
Or51d1	G	A	7: 102,347,933 (GRCm39)	G163R	probably damaging	Het
Or6c38	T	G	10: 128,929,489 (GRCm39)	Y118S	probably damaging	Het
Pcdhga2	A	G	18: 37,802,452 (GRCm39)	S99G	probably benign	Het
Pcnx1	T	A	12: 81,965,925 (GRCm39)	D697E	probably damaging	Het
Plxnb1	G	A	9: 108,939,716 (GRCm39)	D1462N	probably damaging	Het
Pnn	G	T	12: 59,118,991 (GRCm39)	V525F	possibly damaging	Het
Prrc2a	A	T	17: 35,375,463 (GRCm39)	D1062E	probably damaging	Het
Prss35	T	A	9: 86,637,722 (GRCm39)	V164E	probably damaging	Het
Psapl1	T	C	5: 36,362,547 (GRCm39)	S380P	probably benign	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Rsph10b	A	G	5: 143,874,135 (GRCm39)	T79A	probably damaging	Het
Sbf2	T	C	7: 109,950,817 (GRCm39)	Q1164R	probably damaging	Het
Scn7a	T	C	2: 66,556,592 (GRCm39)	D331G	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sspo	G	A	6: 48,438,519 (GRCm39)	S1529N	probably benign	Het
St8sia3	T	A	18: 64,398,634 (GRCm39)	V31E	probably benign	Het
Sult1b1	A	T	5: 87,662,906 (GRCm39)	W265R	probably damaging	Het
Supt5	G	T	7: 28,015,754 (GRCm39)	Q863K	probably benign	Het
Tdpoz1	T	A	3: 93,577,845 (GRCm39)	D313V	possibly damaging	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tpx2	A	T	2: 152,727,016 (GRCm39)	T428S	probably damaging	Het
Trip11	A	T	12: 101,851,705 (GRCm39)	H786Q	probably benign	Het
Trpc6	A	T	9: 8,626,615 (GRCm39)	M322L	probably benign	Het
Try10	T	C	6: 41,332,386 (GRCm39)	V14A	probably benign	Het
Unc13d	A	T	11: 115,961,108 (GRCm39)	F416L	probably damaging	Het
Vmn2r75	A	T	7: 85,812,378 (GRCm39)	M547K	possibly damaging	Het
Zbp1	A	G	2: 173,051,006 (GRCm39)	F288S	probably damaging	Het
Zc3h11a	T	A	1: 133,568,436 (GRCm39)	Q71L	probably damaging	Het
Zfp40	G	A	17: 23,396,008 (GRCm39)	T193I	possibly damaging	Het
Zfp607a	T	C	7: 27,578,078 (GRCm39)	Y383H	probably benign	Het
Zfp622	T	A	15: 25,987,128 (GRCm39)	Y82*	probably null	Het
Zfp964	T	C	8: 70,116,665 (GRCm39)	F422L	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
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
R7453:Tbc1d31	UTSW	15	57,814,391 (GRCm39)	missense	probably damaging	1.00
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'- TTGCCTTCATAAATTTTGAGCCACC -3'
(R):5'- AGCACACCTCAGTATCGTCG -3'

Sequencing Primer
(F):5'- CTTCATAAATTTTGAGCCACCTTTTG -3'
(R):5'- TATCGTCGGCCGCACAGAG -3'

Posted On

2016-02-04