Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Ttc41'

176637

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

BC030307, Gnn

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86541675-86612708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86611857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1075 (Y1075C)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075632] [ENSMUST00000099396]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075632
AA Change: Y1075C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: Y1075C

Domain	Start	End	E-Value	Type
low complexity region	216	229	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
Pfam:NACHT	337	515	5.4e-10	PFAM
SCOP:d1qqea_	805	1028	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099396

SMART Domains

Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:5_nucleotid	83	526	1.8e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218802

Predicted Effect

probably benign
Transcript: ENSMUST00000219476

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,813,775 (GRCm39)	S797P	probably damaging	Het
Akap9	T	C	5: 4,011,783 (GRCm39)	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,279,375 (GRCm39)	D74G	probably damaging	Het
B3gat1	T	C	9: 26,663,112 (GRCm39)	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 123,374,448 (GRCm39)	V99D	probably damaging	Het
Celsr2	C	T	3: 108,309,799 (GRCm39)	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,749,078 (GRCm39)	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,742,446 (GRCm39)	M3L	probably benign	Het
Dnah12	C	T	14: 26,488,147 (GRCm39)	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,456,364 (GRCm39)	D86V	probably damaging	Het
Evx2	T	G	2: 74,488,195 (GRCm39)	K208N	probably damaging	Het
F13a1	A	G	13: 37,052,785 (GRCm39)	V718A	probably damaging	Het
Fcho2	T	C	13: 98,862,706 (GRCm39)	D757G	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fryl	C	T	5: 73,232,094 (GRCm39)	W424*	probably null	Het
Gata3	G	T	2: 9,879,579 (GRCm39)	Y97*	probably null	Het
Gm15446	T	A	5: 110,090,323 (GRCm39)	C192S	probably damaging	Het
Hdac10	A	T	15: 89,009,521 (GRCm39)	D470E	probably benign	Het
Ier2	A	G	8: 85,389,055 (GRCm39)	L109P	probably benign	Het
Iftap	T	C	2: 101,440,916 (GRCm39)	E29G	probably damaging	Het
Kcnh2	T	C	5: 24,527,217 (GRCm39)	T559A	probably benign	Het
Khk	C	T	5: 31,087,938 (GRCm39)	A204V	probably damaging	Het
Kndc1	T	A	7: 139,507,321 (GRCm39)	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,798,919 (GRCm39)	S41G	probably benign	Het
Nabp1	T	C	1: 51,512,162 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,913,039 (GRCm39)	D939G	probably benign	Het
Or5e1	A	T	7: 108,354,309 (GRCm39)	N82I	probably damaging	Het
Plcg2	T	C	8: 118,340,974 (GRCm39)	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,134,424 (GRCm39)	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,853,112 (GRCm39)	D168G	probably benign	Het
Shisa8	G	A	15: 82,092,756 (GRCm39)	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,054,204 (GRCm39)	V89A	probably benign	Het
Slc40a1	C	T	1: 45,950,457 (GRCm39)	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,291,496 (GRCm39)	Y373*	probably null	Het
Slf2	T	C	19: 44,937,440 (GRCm39)	V722A	probably benign	Het
Spanxn4	A	G	12: 62,734,624 (GRCm39)		noncoding transcript	Het
Stag3	T	A	5: 138,296,901 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,628,038 (GRCm39)	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,906,043 (GRCm39)	M286L	probably benign	Het
Top1	T	A	2: 160,545,515 (GRCm39)	N294K	probably benign	Het
Tpr	T	G	1: 150,302,644 (GRCm39)	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,254,154 (GRCm39)	S126A	probably benign	Het
Ubox5	C	T	2: 130,439,376 (GRCm39)	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,180,907 (GRCm39)	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500 (GRCm39)	H628R	probably damaging	Het
Zfp810	T	C	9: 22,190,216 (GRCm39)	I231V	probably benign	Het

Other mutations in Ttc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Ttc41	APN	10	86,572,797 (GRCm39)	missense	possibly damaging	0.71
IGL01373:Ttc41	APN	10	86,611,821 (GRCm39)	missense	possibly damaging	0.61
IGL01636:Ttc41	APN	10	86,612,542 (GRCm39)	missense	probably benign
IGL01707:Ttc41	APN	10	86,612,631 (GRCm39)	missense	probably damaging	1.00
IGL01814:Ttc41	APN	10	86,566,890 (GRCm39)	missense	probably damaging	0.98
IGL01845:Ttc41	APN	10	86,612,488 (GRCm39)	missense	probably benign	0.03
IGL01918:Ttc41	APN	10	86,549,054 (GRCm39)	missense	probably damaging	1.00
IGL02374:Ttc41	APN	10	86,611,815 (GRCm39)	missense	probably damaging	1.00
IGL02489:Ttc41	APN	10	86,596,778 (GRCm39)	nonsense	probably null
IGL02887:Ttc41	APN	10	86,569,518 (GRCm39)	missense	probably damaging	1.00
IGL03061:Ttc41	APN	10	86,572,721 (GRCm39)	missense	possibly damaging	0.65
IGL03077:Ttc41	APN	10	86,594,212 (GRCm39)	missense	probably damaging	1.00
IGL03210:Ttc41	APN	10	86,560,278 (GRCm39)	critical splice donor site	probably null
IGL03242:Ttc41	APN	10	86,612,683 (GRCm39)	makesense	probably null
IGL03307:Ttc41	APN	10	86,580,304 (GRCm39)	missense	possibly damaging	0.76
BB003:Ttc41	UTSW	10	86,611,911 (GRCm39)	missense	probably benign	0.10
BB013:Ttc41	UTSW	10	86,611,911 (GRCm39)	missense	probably benign	0.10
R0071:Ttc41	UTSW	10	86,572,710 (GRCm39)	missense	probably benign	0.01
R0071:Ttc41	UTSW	10	86,572,710 (GRCm39)	missense	probably benign	0.01
R0379:Ttc41	UTSW	10	86,548,841 (GRCm39)	missense	possibly damaging	0.65
R0384:Ttc41	UTSW	10	86,599,811 (GRCm39)	missense	probably damaging	1.00
R0545:Ttc41	UTSW	10	86,594,961 (GRCm39)	missense	probably benign	0.00
R1589:Ttc41	UTSW	10	86,612,254 (GRCm39)	missense	probably benign	0.01
R1599:Ttc41	UTSW	10	86,612,437 (GRCm39)	missense	probably benign	0.04
R1670:Ttc41	UTSW	10	86,612,116 (GRCm39)	missense	possibly damaging	0.93
R1938:Ttc41	UTSW	10	86,612,078 (GRCm39)	missense	probably benign
R2398:Ttc41	UTSW	10	86,549,250 (GRCm39)	missense	possibly damaging	0.91
R2401:Ttc41	UTSW	10	86,560,238 (GRCm39)	missense	probably benign	0.42
R3117:Ttc41	UTSW	10	86,560,184 (GRCm39)	missense	possibly damaging	0.62
R3119:Ttc41	UTSW	10	86,560,184 (GRCm39)	missense	possibly damaging	0.62
R4805:Ttc41	UTSW	10	86,565,662 (GRCm39)	missense	possibly damaging	0.62
R4840:Ttc41	UTSW	10	86,566,989 (GRCm39)	missense	probably benign	0.10
R4841:Ttc41	UTSW	10	86,566,989 (GRCm39)	missense	probably benign	0.10
R4842:Ttc41	UTSW	10	86,566,989 (GRCm39)	missense	probably benign	0.10
R4884:Ttc41	UTSW	10	86,566,882 (GRCm39)	missense	probably benign	0.00
R4885:Ttc41	UTSW	10	86,594,966 (GRCm39)	missense	possibly damaging	0.76
R4898:Ttc41	UTSW	10	86,612,056 (GRCm39)	missense	possibly damaging	0.80
R5067:Ttc41	UTSW	10	86,580,408 (GRCm39)	missense	probably damaging	0.96
R5253:Ttc41	UTSW	10	86,566,806 (GRCm39)	missense	probably benign	0.13
R5268:Ttc41	UTSW	10	86,580,342 (GRCm39)	missense	possibly damaging	0.76
R5297:Ttc41	UTSW	10	86,612,443 (GRCm39)	missense	probably benign	0.04
R5301:Ttc41	UTSW	10	86,555,384 (GRCm39)	missense	probably benign	0.00
R5425:Ttc41	UTSW	10	86,612,494 (GRCm39)	missense	probably damaging	0.96
R5567:Ttc41	UTSW	10	86,596,784 (GRCm39)	critical splice donor site	probably null
R5635:Ttc41	UTSW	10	86,572,841 (GRCm39)	missense	probably benign	0.09
R5752:Ttc41	UTSW	10	86,594,210 (GRCm39)	missense	probably benign	0.33
R5868:Ttc41	UTSW	10	86,586,128 (GRCm39)	missense	possibly damaging	0.70
R5948:Ttc41	UTSW	10	86,549,088 (GRCm39)	missense	probably damaging	1.00
R6116:Ttc41	UTSW	10	86,594,952 (GRCm39)	critical splice acceptor site	probably null
R6247:Ttc41	UTSW	10	86,612,527 (GRCm39)	missense	probably benign	0.00
R6260:Ttc41	UTSW	10	86,569,571 (GRCm39)	missense	probably benign	0.32
R6260:Ttc41	UTSW	10	86,567,023 (GRCm39)	missense	probably benign	0.20
R6276:Ttc41	UTSW	10	86,580,313 (GRCm39)	missense	probably benign	0.01
R6458:Ttc41	UTSW	10	86,594,134 (GRCm39)	missense	possibly damaging	0.45
R7170:Ttc41	UTSW	10	86,549,367 (GRCm39)	missense	probably benign	0.17
R7348:Ttc41	UTSW	10	86,586,212 (GRCm39)	nonsense	probably null
R7382:Ttc41	UTSW	10	86,612,374 (GRCm39)	missense	probably damaging	0.97
R7509:Ttc41	UTSW	10	86,549,296 (GRCm39)	missense	probably damaging	1.00
R7689:Ttc41	UTSW	10	86,595,088 (GRCm39)	missense	probably damaging	1.00
R7807:Ttc41	UTSW	10	86,612,495 (GRCm39)	missense	probably benign	0.02
R7926:Ttc41	UTSW	10	86,611,911 (GRCm39)	missense	probably benign	0.10
R7998:Ttc41	UTSW	10	86,572,711 (GRCm39)	missense	probably benign	0.01
R8021:Ttc41	UTSW	10	86,569,578 (GRCm39)	missense	probably benign
R8059:Ttc41	UTSW	10	86,548,842 (GRCm39)	missense	probably benign	0.01
R8170:Ttc41	UTSW	10	86,612,030 (GRCm39)	missense	probably damaging	1.00
R8303:Ttc41	UTSW	10	86,555,494 (GRCm39)	missense	probably benign	0.06
R8375:Ttc41	UTSW	10	86,599,844 (GRCm39)	missense	probably damaging	0.97
R8383:Ttc41	UTSW	10	86,555,390 (GRCm39)	missense	probably benign	0.00
R8698:Ttc41	UTSW	10	86,548,841 (GRCm39)	missense	probably benign	0.00
R8773:Ttc41	UTSW	10	86,565,679 (GRCm39)	missense	probably benign	0.35
R8902:Ttc41	UTSW	10	86,548,865 (GRCm39)	missense	probably benign	0.06
R8985:Ttc41	UTSW	10	86,566,956 (GRCm39)	missense	possibly damaging	0.80
R8988:Ttc41	UTSW	10	86,549,599 (GRCm39)	missense	possibly damaging	0.88
R9007:Ttc41	UTSW	10	86,569,625 (GRCm39)	missense	probably damaging	1.00
R9137:Ttc41	UTSW	10	86,612,486 (GRCm39)	missense	probably benign	0.22
R9236:Ttc41	UTSW	10	86,612,594 (GRCm39)	missense	probably damaging	1.00
R9248:Ttc41	UTSW	10	86,567,113 (GRCm39)	missense	probably benign	0.00
R9287:Ttc41	UTSW	10	86,599,830 (GRCm39)	missense	probably benign	0.43
R9345:Ttc41	UTSW	10	86,595,089 (GRCm39)	missense	probably damaging	0.99
R9386:Ttc41	UTSW	10	86,548,890 (GRCm39)	missense	probably damaging	0.99
R9500:Ttc41	UTSW	10	86,565,726 (GRCm39)	missense	probably benign	0.03
R9570:Ttc41	UTSW	10	86,549,598 (GRCm39)	missense	possibly damaging	0.88
R9593:Ttc41	UTSW	10	86,549,049 (GRCm39)	missense	probably benign	0.24
X0024:Ttc41	UTSW	10	86,560,114 (GRCm39)	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86,565,661 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTAGGACAGATGGTGCTCTGATGC -3'
(R):5'- TCCTCAGCAGACTTGCACAGAATTG -3'

Sequencing Primer
(F):5'- GCTCTGATGCTGGCCTTATAAATC -3'
(R):5'- CAGTGTTTACCGTGTCAGAAC -3'

Posted On

2014-04-24