Mutagenetix > Incidental Mutation

Incidental Mutation 'R4805:Ttc41'

370630

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

041999-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R4805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86729798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 405 (M405I)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075632] [ENSMUST00000219108]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000070435

SMART Domains

Protein: ENSMUSP00000136633
Gene: ENSMUSG00000056366

Domain	Start	End	E-Value	Type
Pfam:Lipocalin_7	3	133	6.5e-13	PFAM
Pfam:Lipocalin	6	132	2.9e-31	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075632
AA Change: M405I

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: M405I

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: ENSMUST00000219108
AA Change: M405I

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	A	15: 84,417,196 (GRCm38)	H82L	probably damaging	Het
4930407I10Rik	T	A	15: 82,066,427 (GRCm38)	Y1508*	probably null	Het
4931414P19Rik	T	C	14: 54,595,454 (GRCm38)	E88G	probably benign	Het
Acaa1b	A	G	9: 119,156,946 (GRCm38)	S17P	probably benign	Het
Arhgef7	G	A	8: 11,831,552 (GRCm38)	E565K	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899 (GRCm38)		probably benign	Het
Bpnt1	T	A	1: 185,345,307 (GRCm38)		probably null	Het
Ccnt1	C	T	15: 98,544,308 (GRCm38)	V360I	probably benign	Het
Chd4	T	C	6: 125,128,945 (GRCm38)	S1829P	possibly damaging	Het
Dennd1b	A	T	1: 139,053,384 (GRCm38)	N112I	probably damaging	Het
Fat2	A	T	11: 55,283,979 (GRCm38)	D1969E	probably benign	Het
Flywch1	A	C	17: 23,760,617 (GRCm38)	D394E	probably benign	Het
Gal3st4	T	A	5: 138,265,471 (GRCm38)		probably null	Het
Gm14403	T	C	2: 177,508,699 (GRCm38)	L146P	probably damaging	Het
Gm5283	G	T	3: 17,230,959 (GRCm38)		noncoding transcript	Het
Gpr161	T	A	1: 165,306,460 (GRCm38)	L97Q	probably damaging	Het
Gstm2	A	T	3: 107,985,095 (GRCm38)	M105K	possibly damaging	Het
Hecw2	A	G	1: 53,840,859 (GRCm38)	Y1264H	probably damaging	Het
Ifi206	T	A	1: 173,481,386 (GRCm38)	Q348L	possibly damaging	Het
Ighv1-83	A	T	12: 115,963,869 (GRCm38)	M87K	possibly damaging	Het
Ighv2-7	A	T	12: 113,807,534 (GRCm38)	S44T	probably damaging	Het
Ipo7	T	A	7: 110,051,484 (GRCm38)	N884K	probably benign	Het
Itga2b	T	C	11: 102,467,866 (GRCm38)	N75S	probably benign	Het
Krt20	A	G	11: 99,428,985 (GRCm38)	V431A	unknown	Het
Krt24	A	T	11: 99,283,626 (GRCm38)	I205N	possibly damaging	Het
Lmo2	T	C	2: 103,981,062 (GRCm38)	Y147H	probably damaging	Het
Lrrc31	A	T	3: 30,691,297 (GRCm38)	L67*	probably null	Het
Lrrc37a	A	G	11: 103,504,309 (GRCm38)	F97L	probably benign	Het
Mapkap1	G	A	2: 34,597,422 (GRCm38)		probably null	Het
Mgat4d	T	G	8: 83,358,158 (GRCm38)		probably null	Het
Mrgprb3	C	T	7: 48,643,306 (GRCm38)	V166I	probably benign	Het
Myh11	T	A	16: 14,234,465 (GRCm38)	Q379L	possibly damaging	Het
Myh7	T	C	14: 54,985,133 (GRCm38)	S782G	probably benign	Het
Nobox	T	C	6: 43,305,119 (GRCm38)	D340G	probably damaging	Het
Ntn4	C	T	10: 93,644,500 (GRCm38)	R29C	probably damaging	Het
Olfr1453	T	A	19: 13,028,297 (GRCm38)	I11F	probably benign	Het
Olfr329-ps	G	A	11: 58,542,570 (GRCm38)	T315I	probably benign	Het
Pikfyve	T	A	1: 65,268,800 (GRCm38)	I1845N	probably damaging	Het
Pramef20	A	G	4: 144,377,020 (GRCm38)	Y179H	probably benign	Het
Rad21l	T	G	2: 151,668,007 (GRCm38)	H58P	probably damaging	Het
Scnn1g	T	C	7: 121,746,602 (GRCm38)	L316S	probably damaging	Het
Serpina5	G	A	12: 104,102,201 (GRCm38)	V174I	probably damaging	Het
Shank1	T	C	7: 44,343,711 (GRCm38)	S788P	unknown	Het
Snap47	A	G	11: 59,428,517 (GRCm38)	V265A	possibly damaging	Het
Steap3	T	A	1: 120,243,886 (GRCm38)	H163L	probably benign	Het
Sycp2	T	C	2: 178,393,961 (GRCm38)		probably benign	Het
Tet2	A	G	3: 133,467,315 (GRCm38)	F1729L	probably benign	Het
Thsd7b	T	C	1: 130,188,539 (GRCm38)	V1343A	probably benign	Het
Thumpd2	G	A	17: 81,026,701 (GRCm38)	T486I	probably damaging	Het
Ttn	T	C	2: 76,747,529 (GRCm38)	D24340G	probably damaging	Het
Vmn1r10	T	G	6: 57,113,617 (GRCm38)	F65V	possibly damaging	Het
Vmn2r118	G	T	17: 55,592,581 (GRCm38)	D774E	probably damaging	Het
Vmn2r13	C	T	5: 109,156,465 (GRCm38)	C700Y	probably damaging	Het
Wsb1	A	C	11: 79,240,391 (GRCm38)	M393R	possibly damaging	Het
Zmat3	A	G	3: 32,343,355 (GRCm38)	Y214H	probably benign	Het
Zswim3	C	T	2: 164,820,179 (GRCm38)	T193I	possibly damaging	Het

Other mutations in Ttc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Ttc41	APN	10	86,736,933 (GRCm38)	missense	possibly damaging	0.71
IGL01373:Ttc41	APN	10	86,775,957 (GRCm38)	missense	possibly damaging	0.61
IGL01636:Ttc41	APN	10	86,776,678 (GRCm38)	missense	probably benign
IGL01707:Ttc41	APN	10	86,776,767 (GRCm38)	missense	probably damaging	1.00
IGL01814:Ttc41	APN	10	86,731,026 (GRCm38)	missense	probably damaging	0.98
IGL01845:Ttc41	APN	10	86,776,624 (GRCm38)	missense	probably benign	0.03
IGL01918:Ttc41	APN	10	86,713,190 (GRCm38)	missense	probably damaging	1.00
IGL02374:Ttc41	APN	10	86,775,951 (GRCm38)	missense	probably damaging	1.00
IGL02489:Ttc41	APN	10	86,760,914 (GRCm38)	nonsense	probably null
IGL02887:Ttc41	APN	10	86,733,654 (GRCm38)	missense	probably damaging	1.00
IGL03061:Ttc41	APN	10	86,736,857 (GRCm38)	missense	possibly damaging	0.65
IGL03077:Ttc41	APN	10	86,758,348 (GRCm38)	missense	probably damaging	1.00
IGL03210:Ttc41	APN	10	86,724,414 (GRCm38)	critical splice donor site	probably null
IGL03242:Ttc41	APN	10	86,776,819 (GRCm38)	makesense	probably null
IGL03307:Ttc41	APN	10	86,744,440 (GRCm38)	missense	possibly damaging	0.76
BB003:Ttc41	UTSW	10	86,776,047 (GRCm38)	missense	probably benign	0.10
BB013:Ttc41	UTSW	10	86,776,047 (GRCm38)	missense	probably benign	0.10
R0071:Ttc41	UTSW	10	86,736,846 (GRCm38)	missense	probably benign	0.01
R0071:Ttc41	UTSW	10	86,736,846 (GRCm38)	missense	probably benign	0.01
R0379:Ttc41	UTSW	10	86,712,977 (GRCm38)	missense	possibly damaging	0.65
R0384:Ttc41	UTSW	10	86,763,947 (GRCm38)	missense	probably damaging	1.00
R0545:Ttc41	UTSW	10	86,759,097 (GRCm38)	missense	probably benign	0.00
R1589:Ttc41	UTSW	10	86,776,390 (GRCm38)	missense	probably benign	0.01
R1599:Ttc41	UTSW	10	86,776,573 (GRCm38)	missense	probably benign	0.04
R1608:Ttc41	UTSW	10	86,775,993 (GRCm38)	missense	probably damaging	1.00
R1670:Ttc41	UTSW	10	86,776,252 (GRCm38)	missense	possibly damaging	0.93
R1938:Ttc41	UTSW	10	86,776,214 (GRCm38)	missense	probably benign
R2398:Ttc41	UTSW	10	86,713,386 (GRCm38)	missense	possibly damaging	0.91
R2401:Ttc41	UTSW	10	86,724,374 (GRCm38)	missense	probably benign	0.42
R3117:Ttc41	UTSW	10	86,724,320 (GRCm38)	missense	possibly damaging	0.62
R3119:Ttc41	UTSW	10	86,724,320 (GRCm38)	missense	possibly damaging	0.62
R4840:Ttc41	UTSW	10	86,731,125 (GRCm38)	missense	probably benign	0.10
R4841:Ttc41	UTSW	10	86,731,125 (GRCm38)	missense	probably benign	0.10
R4842:Ttc41	UTSW	10	86,731,125 (GRCm38)	missense	probably benign	0.10
R4884:Ttc41	UTSW	10	86,731,018 (GRCm38)	missense	probably benign	0.00
R4885:Ttc41	UTSW	10	86,759,102 (GRCm38)	missense	possibly damaging	0.76
R4898:Ttc41	UTSW	10	86,776,192 (GRCm38)	missense	possibly damaging	0.80
R5067:Ttc41	UTSW	10	86,744,544 (GRCm38)	missense	probably damaging	0.96
R5253:Ttc41	UTSW	10	86,730,942 (GRCm38)	missense	probably benign	0.13
R5268:Ttc41	UTSW	10	86,744,478 (GRCm38)	missense	possibly damaging	0.76
R5297:Ttc41	UTSW	10	86,776,579 (GRCm38)	missense	probably benign	0.04
R5301:Ttc41	UTSW	10	86,719,520 (GRCm38)	missense	probably benign	0.00
R5425:Ttc41	UTSW	10	86,776,630 (GRCm38)	missense	probably damaging	0.96
R5567:Ttc41	UTSW	10	86,760,920 (GRCm38)	critical splice donor site	probably null
R5635:Ttc41	UTSW	10	86,736,977 (GRCm38)	missense	probably benign	0.09
R5752:Ttc41	UTSW	10	86,758,346 (GRCm38)	missense	probably benign	0.33
R5868:Ttc41	UTSW	10	86,750,264 (GRCm38)	missense	possibly damaging	0.70
R5948:Ttc41	UTSW	10	86,713,224 (GRCm38)	missense	probably damaging	1.00
R6116:Ttc41	UTSW	10	86,759,088 (GRCm38)	critical splice acceptor site	probably null
R6247:Ttc41	UTSW	10	86,776,663 (GRCm38)	missense	probably benign	0.00
R6260:Ttc41	UTSW	10	86,733,707 (GRCm38)	missense	probably benign	0.32
R6260:Ttc41	UTSW	10	86,731,159 (GRCm38)	missense	probably benign	0.20
R6276:Ttc41	UTSW	10	86,744,449 (GRCm38)	missense	probably benign	0.01
R6458:Ttc41	UTSW	10	86,758,270 (GRCm38)	missense	possibly damaging	0.45
R7170:Ttc41	UTSW	10	86,713,503 (GRCm38)	missense	probably benign	0.17
R7348:Ttc41	UTSW	10	86,750,348 (GRCm38)	nonsense	probably null
R7382:Ttc41	UTSW	10	86,776,510 (GRCm38)	missense	probably damaging	0.97
R7509:Ttc41	UTSW	10	86,713,432 (GRCm38)	missense	probably damaging	1.00
R7689:Ttc41	UTSW	10	86,759,224 (GRCm38)	missense	probably damaging	1.00
R7807:Ttc41	UTSW	10	86,776,631 (GRCm38)	missense	probably benign	0.02
R7926:Ttc41	UTSW	10	86,776,047 (GRCm38)	missense	probably benign	0.10
R7998:Ttc41	UTSW	10	86,736,847 (GRCm38)	missense	probably benign	0.01
R8021:Ttc41	UTSW	10	86,733,714 (GRCm38)	missense	probably benign
R8059:Ttc41	UTSW	10	86,712,978 (GRCm38)	missense	probably benign	0.01
R8170:Ttc41	UTSW	10	86,776,166 (GRCm38)	missense	probably damaging	1.00
R8303:Ttc41	UTSW	10	86,719,630 (GRCm38)	missense	probably benign	0.06
R8375:Ttc41	UTSW	10	86,763,980 (GRCm38)	missense	probably damaging	0.97
R8383:Ttc41	UTSW	10	86,719,526 (GRCm38)	missense	probably benign	0.00
R8698:Ttc41	UTSW	10	86,712,977 (GRCm38)	missense	probably benign	0.00
R8773:Ttc41	UTSW	10	86,729,815 (GRCm38)	missense	probably benign	0.35
R8902:Ttc41	UTSW	10	86,713,001 (GRCm38)	missense	probably benign	0.06
R8985:Ttc41	UTSW	10	86,731,092 (GRCm38)	missense	possibly damaging	0.80
R8988:Ttc41	UTSW	10	86,713,735 (GRCm38)	missense	possibly damaging	0.88
R9007:Ttc41	UTSW	10	86,733,761 (GRCm38)	missense	probably damaging	1.00
R9137:Ttc41	UTSW	10	86,776,622 (GRCm38)	missense	probably benign	0.22
R9236:Ttc41	UTSW	10	86,776,730 (GRCm38)	missense	probably damaging	1.00
R9248:Ttc41	UTSW	10	86,731,249 (GRCm38)	missense	probably benign	0.00
R9287:Ttc41	UTSW	10	86,763,966 (GRCm38)	missense	probably benign	0.43
R9345:Ttc41	UTSW	10	86,759,225 (GRCm38)	missense	probably damaging	0.99
R9386:Ttc41	UTSW	10	86,713,026 (GRCm38)	missense	probably damaging	0.99
R9500:Ttc41	UTSW	10	86,729,862 (GRCm38)	missense	probably benign	0.03
R9570:Ttc41	UTSW	10	86,713,734 (GRCm38)	missense	possibly damaging	0.88
R9593:Ttc41	UTSW	10	86,713,185 (GRCm38)	missense	probably benign	0.24
X0024:Ttc41	UTSW	10	86,724,250 (GRCm38)	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86,729,797 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATAGCACCACTACTTTGGGCC -3'
(R):5'- CCTAAGTAATGGGGTCTTCTCC -3'

Sequencing Primer
(F):5'- CCTGAATGTCTTGAGGAAGCC -3'
(R):5'- GTCTAGTACCAGGATGCA -3'

Posted On

2016-02-04