Mutagenetix > Incidental Mutation

Incidental Mutation 'R9469:Tcaf3'

715346

Institutional Source

Beutler Lab

Gene Symbol

Tcaf3

Ensembl Gene

ENSMUSG00000018656

Gene Name

TRPM8 channel-associated factor 3

Synonyms

Eapa2, Fam115e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R9469 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42584866-42597692 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42596894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 128 (I128T)

Ref Sequence

ENSEMBL: ENSMUSP00000064060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069023] [ENSMUST00000134707]

AlphaFold

Q6QR59

Predicted Effect

probably benign
Transcript: ENSMUST00000069023
AA Change: I128T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000064060
Gene: ENSMUSG00000018656
AA Change: I128T

Domain	Start	End	E-Value	Type
internal_repeat_1	26	194	9.98e-16	PROSPERO
low complexity region	210	221	N/A	INTRINSIC
internal_repeat_1	234	402	9.98e-16	PROSPERO
low complexity region	509	518	N/A	INTRINSIC
M60-like	533	832	3.49e-130	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134707
AA Change: I128T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123321
Gene: ENSMUSG00000018656
AA Change: I128T

Domain	Start	End	E-Value	Type
low complexity region	210	221	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,283	D8V	probably benign	Het
Ada	T	A	2: 163,732,272	M155L	probably benign	Het
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Ahnak	G	A	19: 9,010,861	G3170R	probably damaging	Het
Alb	G	A	5: 90,462,800	D80N	probably benign	Het
Amph	G	T	13: 19,086,599	G126V	probably damaging	Het
Anks1b	A	T	10: 90,897,343	M994L	possibly damaging	Het
Atp8a2	A	G	14: 59,791,219	L933P	probably benign	Het
Bcas1	T	C	2: 170,349,372	D546G	possibly damaging	Het
Bmpr2	A	C	1: 59,842,769	M186L	probably benign	Het
Clca3a2	T	C	3: 144,802,177	I711V	probably damaging	Het
Cobll1	G	A	2: 65,136,430	T128I	probably damaging	Het
Cog4	T	C	8: 110,882,172	W165R	unknown	Het
Cyp2j5	G	A	4: 96,629,494	R494*	probably null	Het
Dnah2	G	A	11: 69,431,070	A3808V	probably damaging	Het
Dnah5	A	T	15: 28,421,000	T3828S	probably benign	Het
Dsg1c	T	C	18: 20,267,890	I150T	probably damaging	Het
Ehd2	A	T	7: 15,950,407	I489N	probably damaging	Het
Fam24a	C	A	7: 131,336,663	T94K	probably damaging	Het
Gata2	A	G	6: 88,205,319	E423G	possibly damaging	Het
Gm8947	A	G	1: 151,193,312	I299V	unknown	Het
Gpr161	A	G	1: 165,306,327	I53V	possibly damaging	Het
Guca2b	G	A	4: 119,658,620	Q15*	probably null	Het
Hus1	A	G	11: 8,998,744	V219A	probably benign	Het
Il5	T	C	11: 53,723,997	W129R	probably damaging	Het
Ipmk	A	G	10: 71,366,013	Y77C	probably damaging	Het
Kcnip3	A	G	2: 127,465,402	L136P	probably benign	Het
Klhl2	G	A	8: 64,743,035	A558V	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lig3	G	A	11: 82,795,373	C613Y	probably benign	Het
Lrriq1	A	G	10: 103,214,900	S664P	probably benign	Het
Megf6	A	G	4: 154,250,912	Y276C	probably damaging	Het
Mlph	A	G	1: 90,928,346	E119G	probably damaging	Het
Mrpl39	T	G	16: 84,720,282	R316S	probably damaging	Het
Myo18b	T	C	5: 112,846,381	D902G	probably benign	Het
Myocd	A	G	11: 65,196,394	S236P	probably benign	Het
Myom1	G	T	17: 71,061,127	A482S	possibly damaging	Het
Nol4	A	G	18: 22,952,261	V32A	probably damaging	Het
Nrp2	T	C	1: 62,764,871	Y555H	probably damaging	Het
Olfr101	T	C	17: 37,300,065	D119G	probably damaging	Het
Olfr1065	C	A	2: 86,445,443	D180Y	probably damaging	Het
Olfr1426	G	A	19: 12,088,070	H241Y	probably benign	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Papss1	A	G	3: 131,583,198	K175E	possibly damaging	Het
Pdcd5	T	C	7: 35,644,402	M39V	probably benign	Het
Plcl2	G	A	17: 50,606,925	D321N	probably benign	Het
Plxna4	G	A	6: 32,517,591	P30L	probably benign	Het
Pou2f1	G	A	1: 165,913,261	T113I	probably benign	Het
Ptpn2	T	A	18: 67,675,837	H303L	probably benign	Het
R3hdm1	T	A	1: 128,179,184		probably null	Het
Rdx	T	C	9: 52,065,769	V106A	probably damaging	Het
Ripk2	T	C	4: 16,138,181	D249G	possibly damaging	Het
Rnf169	A	T	7: 99,926,360	S343T	possibly damaging	Het
Rnf40	T	A	7: 127,596,597	L671Q	probably damaging	Het
Scube3	C	A	17: 28,167,164	S793*	probably null	Het
Sipa1l3	A	T	7: 29,329,056	M1633K	possibly damaging	Het
Slc16a14	A	T	1: 84,922,891	N124K	probably benign	Het
Smarcd2	G	A	11: 106,272,506	A68V	probably benign	Het
Smg1	T	C	7: 118,140,551	E3391G	possibly damaging	Het
Spata32	T	C	11: 103,208,915	M255V	possibly damaging	Het
Sstr5	T	A	17: 25,491,967	Q96L	probably damaging	Het
Tfdp1	C	T	8: 13,372,965	T290M	probably benign	Het
Ticrr	C	T	7: 79,694,763	H1459Y	probably benign	Het
Tmed4	T	A	11: 6,273,763	Q171L	probably benign	Het
Tmem40	G	A	6: 115,742,360	S48F	possibly damaging	Het
Tnfaip1	A	G	11: 78,528,249		probably null	Het
Top1mt	A	G	15: 75,667,893	Y290H	probably damaging	Het
Topaz1	A	T	9: 122,748,520	D165V	probably damaging	Het
Trim44	T	C	2: 102,400,306	S127G	unknown	Het
Ubac1	G	A	2: 26,007,751	R286C	probably damaging	Het
Ube2u	A	G	4: 100,549,761	E273G	possibly damaging	Het
Vmn1r213	G	A	13: 23,011,931	S228N	probably benign	Het
Vmn2r28	A	T	7: 5,484,119	V515E	probably damaging	Het
Vps13d	A	G	4: 145,054,121	L4011P		Het
Ythdc2	T	C	18: 44,886,316	F1384S	probably damaging	Het
Zfp423	T	A	8: 87,782,891	Y275F	probably damaging	Het
Zfp493	A	G	13: 67,786,206	K93E	probably benign	Het
Zfp980	G	T	4: 145,701,117	G139W	probably benign	Het

Other mutations in Tcaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Tcaf3	APN	6	42593385	missense	probably benign	0.14
IGL00931:Tcaf3	APN	6	42597228	missense	probably benign	0.16
IGL01391:Tcaf3	APN	6	42593681	missense	probably damaging	1.00
IGL01804:Tcaf3	APN	6	42597129	missense	probably damaging	1.00
IGL02272:Tcaf3	APN	6	42596660	missense	probably damaging	0.98
IGL02934:Tcaf3	APN	6	42593898	missense	probably benign	0.00
IGL03258:Tcaf3	APN	6	42589839	missense	probably damaging	1.00
defused	UTSW	6	42596933	missense	probably benign	0.03
R0116:Tcaf3	UTSW	6	42591350	missense	probably benign	0.12
R0135:Tcaf3	UTSW	6	42589758	missense	probably benign
R0357:Tcaf3	UTSW	6	42589827	missense	probably damaging	0.98
R0526:Tcaf3	UTSW	6	42589804	missense	probably damaging	1.00
R0592:Tcaf3	UTSW	6	42596843	missense	probably benign	0.16
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1185:Tcaf3	UTSW	6	42591434	missense	probably damaging	1.00
R1902:Tcaf3	UTSW	6	42593552	missense	possibly damaging	0.83
R1912:Tcaf3	UTSW	6	42596688	missense	possibly damaging	0.59
R2020:Tcaf3	UTSW	6	42593724	missense	possibly damaging	0.66
R2238:Tcaf3	UTSW	6	42593328	missense	probably benign	0.00
R2259:Tcaf3	UTSW	6	42591430	missense	possibly damaging	0.53
R2436:Tcaf3	UTSW	6	42593729	missense	probably damaging	1.00
R3005:Tcaf3	UTSW	6	42594044	missense	probably damaging	1.00
R3402:Tcaf3	UTSW	6	42593853	missense	probably benign	0.08
R3753:Tcaf3	UTSW	6	42589804	missense	probably damaging	1.00
R3799:Tcaf3	UTSW	6	42597080	missense	probably damaging	1.00
R4515:Tcaf3	UTSW	6	42589996	missense	probably damaging	1.00
R4640:Tcaf3	UTSW	6	42587579	missense	probably damaging	0.96
R4688:Tcaf3	UTSW	6	42593366	splice site	probably null
R4904:Tcaf3	UTSW	6	42593997	nonsense	probably null
R5030:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5031:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5045:Tcaf3	UTSW	6	42593684	missense	possibly damaging	0.55
R5105:Tcaf3	UTSW	6	42591325	missense	probably damaging	1.00
R5139:Tcaf3	UTSW	6	42596933	missense	probably benign	0.03
R5187:Tcaf3	UTSW	6	42597020	missense	possibly damaging	0.51
R5196:Tcaf3	UTSW	6	42593715	missense	probably benign	0.00
R5213:Tcaf3	UTSW	6	42591467	missense	probably damaging	1.00
R5296:Tcaf3	UTSW	6	42587510	missense	possibly damaging	0.55
R5402:Tcaf3	UTSW	6	42591926	missense	probably benign	0.12
R5425:Tcaf3	UTSW	6	42596763	missense	probably damaging	1.00
R5431:Tcaf3	UTSW	6	42597185	missense	probably damaging	1.00
R5601:Tcaf3	UTSW	6	42587528	missense	possibly damaging	0.90
R5839:Tcaf3	UTSW	6	42593849	missense	possibly damaging	0.55
R5865:Tcaf3	UTSW	6	42596697	missense	probably benign	0.07
R6005:Tcaf3	UTSW	6	42589971	missense	probably benign	0.19
R6270:Tcaf3	UTSW	6	42593791	missense	probably benign	0.00
R6341:Tcaf3	UTSW	6	42597259	missense	possibly damaging	0.55
R6344:Tcaf3	UTSW	6	42597171	missense	possibly damaging	0.48
R6521:Tcaf3	UTSW	6	42593238	missense	probably damaging	0.99
R6589:Tcaf3	UTSW	6	42594061	missense	possibly damaging	0.55
R6981:Tcaf3	UTSW	6	42597125	missense	probably damaging	1.00
R7155:Tcaf3	UTSW	6	42593891	missense	probably benign
R7185:Tcaf3	UTSW	6	42593930	missense	probably benign	0.01
R7262:Tcaf3	UTSW	6	42593801	missense	probably damaging	0.97
R7340:Tcaf3	UTSW	6	42589914	missense	probably benign	0.08
R7421:Tcaf3	UTSW	6	42596842	missense	probably benign	0.02
R7690:Tcaf3	UTSW	6	42597135	missense	probably damaging	1.00
R7850:Tcaf3	UTSW	6	42594206	splice site	probably null
R7909:Tcaf3	UTSW	6	42591964	missense	possibly damaging	0.92
R9419:Tcaf3	UTSW	6	42596782	missense	probably benign	0.00
R9440:Tcaf3	UTSW	6	42596972	nonsense	probably null
R9668:Tcaf3	UTSW	6	42589702	missense	probably damaging	1.00
R9787:Tcaf3	UTSW	6	42597090	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGAACCAGTCTCTATTCGCAG -3'
(R):5'- TCGTATCCCATGAGAGCTACC -3'

Sequencing Primer
(F):5'- TCTCTATTCGCAGAGATATCAGTG -3'
(R):5'- TACCTGCTGCACGATGGC -3'

Posted On

2022-06-15