Mutagenetix > Incidental Mutation

Incidental Mutation 'R4884:Ttc41'

375561

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

041978-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R4884 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86731018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 516 (D516G)

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

probably benign
Transcript: ENSMUST00000075632
AA Change: D516G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: D516G

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: D516G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,164,812	M417K	probably damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4930452B06Rik	G	A	14: 8,578,394	T116I	probably damaging	Het
Aadat	C	T	8: 60,526,629	P175L	probably damaging	Het
Acot7	G	T	4: 152,186,207		probably benign	Het
Adad1	T	G	3: 37,076,664	F259V	possibly damaging	Het
Adora2a	A	G	10: 75,326,045	Y6C	probably null	Het
Ahnak	A	G	19: 9,012,754		probably benign	Het
Ankar	A	T	1: 72,698,807	M72K	probably damaging	Het
Ankrd45	A	G	1: 161,160,700	K176R	possibly damaging	Het
Ap3m2	T	C	8: 22,803,981	K18E	probably damaging	Het
Apol10b	C	T	15: 77,588,806	R16Q	possibly damaging	Het
Atp2b2	T	A	6: 113,842,186	T49S	possibly damaging	Het
B3gntl1	T	G	11: 121,629,969	Y206S	possibly damaging	Het
BC061237	G	A	14: 44,501,209	E22K	possibly damaging	Het
Bmp1	A	G	14: 70,475,215	V959A	probably benign	Het
C530008M17Rik	A	T	5: 76,848,835	I47F	probably damaging	Het
Cep295	T	C	9: 15,351,760	E169G	probably damaging	Het
Cfap65	T	G	1: 74,903,124	E1757A	possibly damaging	Het
Cgrrf1	T	A	14: 46,853,455	I216N	possibly damaging	Het
Clstn2	T	A	9: 97,799,395	D64V	probably damaging	Het
Col27a1	T	A	4: 63,275,960	D851E	possibly damaging	Het
Coq9	C	T	8: 94,853,194	P259L	probably benign	Het
Cps1	A	G	1: 67,177,024	N836S	probably benign	Het
Crebbp	T	C	16: 4,088,375	K1588E	probably damaging	Het
Cspg4	T	C	9: 56,898,069	W2055R	probably benign	Het
Cyp3a44	A	T	5: 145,777,982	M453K	probably damaging	Het
Dhx36	T	G	3: 62,484,260	D555A	probably damaging	Het
Dock2	A	T	11: 34,266,248	Y1219N	probably damaging	Het
Dpy19l2	A	T	9: 24,628,180	C492*	probably null	Het
Dusp22	A	G	13: 30,668,830	N16S	probably benign	Het
Epha1	A	G	6: 42,360,734	M805T	probably damaging	Het
Espl1	C	T	15: 102,324,070	A2071V	possibly damaging	Het
Fam160a1	A	C	3: 85,683,611	C178G	probably damaging	Het
Fbxo11	T	A	17: 87,992,333	D863V	probably damaging	Het
Fbxo7	T	A	10: 86,029,150	Y106N	probably damaging	Het
Fst	A	G	13: 114,454,384	V282A	probably damaging	Het
Gfra3	T	A	18: 34,711,251	M79L	probably benign	Het
Glp1r	T	C	17: 30,936,266	V409A	probably damaging	Het
Gm10799	T	A	2: 104,068,207	D51V	probably damaging	Het
Gm572	C	A	4: 148,667,362	T228N	possibly damaging	Het
Grip1	C	T	10: 120,075,306	T643M	probably damaging	Het
Hdgfl2	C	T	17: 56,096,265	R222C	possibly damaging	Het
Hecw2	T	A	1: 53,950,841	I125F	probably benign	Het
Hipk1	A	G	3: 103,744,022	S1153P	possibly damaging	Het
Insm2	T	C	12: 55,599,761	S97P	probably damaging	Het
Iqca	A	G	1: 90,140,037	V164A	probably benign	Het
Kcna6	T	C	6: 126,738,726	D400G	probably benign	Het
Kctd1	T	C	18: 14,974,254	Y122C	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra2	T	C	6: 131,230,202	Y148C	probably damaging	Het
Krtap31-1	G	A	11: 99,908,484	C171Y	unknown	Het
Ldlrap1	C	T	4: 134,758,971	R59Q	probably benign	Het
Ltb	T	C	17: 35,195,258	I3T	probably benign	Het
Macf1	T	C	4: 123,455,009	I2477V	probably benign	Het
Mpdz	A	T	4: 81,361,476	I39N	probably damaging	Het
Mycbp2	A	G	14: 103,211,295	I1776T	probably damaging	Het
Myof	T	A	19: 37,942,357	E994V	probably damaging	Het
Myom3	A	G	4: 135,783,055	E553G	possibly damaging	Het
Mysm1	A	T	4: 94,958,948	C504S	probably damaging	Het
Nectin3	A	T	16: 46,448,886	H384Q	probably benign	Het
Net1	G	A	13: 3,884,252	R482*	probably null	Het
Nit1	T	C	1: 171,343,695	K193R	probably null	Het
Nlgn1	A	G	3: 25,912,674	V205A	probably damaging	Het
Nr3c2	A	T	8: 76,908,809	I180F	possibly damaging	Het
Nup62	T	A	7: 44,828,865	S101R	probably damaging	Het
Olfr1264	A	G	2: 90,021,643	V141A	probably benign	Het
Olfr1465	A	T	19: 13,313,670	I205N	probably benign	Het
Olfr1489	A	T	19: 13,634,027	K305N	probably benign	Het
Olfr155	T	C	4: 43,854,890	S194P	probably damaging	Het
Olfr355	G	T	2: 36,928,012	T34K	possibly damaging	Het
Olfr508	A	T	7: 108,630,612	I207F	probably damaging	Het
Olfr64	T	A	7: 103,893,655	I27F	probably benign	Het
Olfr663	T	A	7: 104,703,861	I98N	probably damaging	Het
Osbpl6	A	T	2: 76,549,539	I158F	probably damaging	Het
Pcbp4	A	G	9: 106,462,102	T103A	probably benign	Het
Pcdha2	T	A	18: 36,940,900	L528Q	probably damaging	Het
Pcdhga5	T	C	18: 37,694,627	S43P	probably damaging	Het
Pdgfra	C	A	5: 75,189,312	N952K	probably benign	Het
Pla2r1	A	G	2: 60,534,984	S81P	probably damaging	Het
Ppp1r32	A	T	19: 10,474,501	*428R	probably null	Het
Rabggtb	A	T	3: 153,911,931	D43E	possibly damaging	Het
Rexo5	T	A	7: 119,825,551	C43*	probably null	Het
Robo1	T	A	16: 72,904,751	D168E	probably damaging	Het
Scimp	A	G	11: 70,798,039	M49T	unknown	Het
Sema3e	T	A	5: 14,225,565	V228E	probably damaging	Het
Sema6d	A	G	2: 124,656,818		probably null	Het
Serpinb6d	A	T	13: 33,666,445	D85V	possibly damaging	Het
Slc24a2	C	T	4: 86,991,508	V658I	probably damaging	Het
Snd1	T	C	6: 28,526,912	I198T	possibly damaging	Het
Snx33	C	T	9: 56,926,180	V202M	probably damaging	Het
Soga3	A	T	10: 29,196,541	N610Y	probably damaging	Het
Srcap	A	G	7: 127,522,017	E174G	probably damaging	Het
Srgap2	C	A	1: 131,292,576		probably null	Het
Stxbp5	A	T	10: 9,812,341	Y405*	probably null	Het
Thsd4	C	T	9: 59,988,037	R710H	probably benign	Het
Trp53inp1	T	A	4: 11,165,130	D51E	probably benign	Het
Uap1l1	A	G	2: 25,362,828	V400A	probably damaging	Het
Vit	T	C	17: 78,624,753	S430P	probably damaging	Het
Vmn1r9	T	A	6: 57,071,309	M123K	possibly damaging	Het
Vmn2r14	A	T	5: 109,221,518		probably null	Het
Vwa3a	A	G	7: 120,791,701	T746A	probably benign	Het
Wdfy4	G	T	14: 32,988,895	Y2578*	probably null	Het
Wdr53	A	T	16: 32,256,978	K334*	probably null	Het
Xpot	G	T	10: 121,606,808	H495Q	probably damaging	Het
Zcchc6	A	T	13: 59,789,452	L775H	probably damaging	Het
Zfp109	T	C	7: 24,229,145	T288A	probably benign	Het
Zfp277	T	A	12: 40,363,153	E276V	probably damaging	Het
Zfp703	A	G	8: 26,978,701	D131G	probably benign	Het
Zfp985	T	A	4: 147,583,344	I223N	probably benign	Het
Zrsr1	T	C	11: 22,973,805	V193A	possibly damaging	Het
Zscan20	A	G	4: 128,588,165	I568T	possibly damaging	Het

Other mutations in Ttc41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Ttc41	APN	10	86736933	missense	possibly damaging	0.71
IGL01373:Ttc41	APN	10	86775957	missense	possibly damaging	0.61
IGL01636:Ttc41	APN	10	86776678	missense	probably benign
IGL01707:Ttc41	APN	10	86776767	missense	probably damaging	1.00
IGL01814:Ttc41	APN	10	86731026	missense	probably damaging	0.98
IGL01845:Ttc41	APN	10	86776624	missense	probably benign	0.03
IGL01918:Ttc41	APN	10	86713190	missense	probably damaging	1.00
IGL02374:Ttc41	APN	10	86775951	missense	probably damaging	1.00
IGL02489:Ttc41	APN	10	86760914	nonsense	probably null
IGL02887:Ttc41	APN	10	86733654	missense	probably damaging	1.00
IGL03061:Ttc41	APN	10	86736857	missense	possibly damaging	0.65
IGL03077:Ttc41	APN	10	86758348	missense	probably damaging	1.00
IGL03210:Ttc41	APN	10	86724414	critical splice donor site	probably null
IGL03242:Ttc41	APN	10	86776819	makesense	probably null
IGL03307:Ttc41	APN	10	86744440	missense	possibly damaging	0.76
BB003:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
BB013:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
R0071:Ttc41	UTSW	10	86736846	missense	probably benign	0.01
R0071:Ttc41	UTSW	10	86736846	missense	probably benign	0.01
R0379:Ttc41	UTSW	10	86712977	missense	possibly damaging	0.65
R0384:Ttc41	UTSW	10	86763947	missense	probably damaging	1.00
R0545:Ttc41	UTSW	10	86759097	missense	probably benign	0.00
R1589:Ttc41	UTSW	10	86776390	missense	probably benign	0.01
R1599:Ttc41	UTSW	10	86776573	missense	probably benign	0.04
R1608:Ttc41	UTSW	10	86775993	missense	probably damaging	1.00
R1670:Ttc41	UTSW	10	86776252	missense	possibly damaging	0.93
R1938:Ttc41	UTSW	10	86776214	missense	probably benign
R2398:Ttc41	UTSW	10	86713386	missense	possibly damaging	0.91
R2401:Ttc41	UTSW	10	86724374	missense	probably benign	0.42
R3117:Ttc41	UTSW	10	86724320	missense	possibly damaging	0.62
R3119:Ttc41	UTSW	10	86724320	missense	possibly damaging	0.62
R4805:Ttc41	UTSW	10	86729798	missense	possibly damaging	0.62
R4840:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4841:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4842:Ttc41	UTSW	10	86731125	missense	probably benign	0.10
R4885:Ttc41	UTSW	10	86759102	missense	possibly damaging	0.76
R4898:Ttc41	UTSW	10	86776192	missense	possibly damaging	0.80
R5067:Ttc41	UTSW	10	86744544	missense	probably damaging	0.96
R5253:Ttc41	UTSW	10	86730942	missense	probably benign	0.13
R5268:Ttc41	UTSW	10	86744478	missense	possibly damaging	0.76
R5297:Ttc41	UTSW	10	86776579	missense	probably benign	0.04
R5301:Ttc41	UTSW	10	86719520	missense	probably benign	0.00
R5425:Ttc41	UTSW	10	86776630	missense	probably damaging	0.96
R5567:Ttc41	UTSW	10	86760920	critical splice donor site	probably null
R5635:Ttc41	UTSW	10	86736977	missense	probably benign	0.09
R5752:Ttc41	UTSW	10	86758346	missense	probably benign	0.33
R5868:Ttc41	UTSW	10	86750264	missense	possibly damaging	0.70
R5948:Ttc41	UTSW	10	86713224	missense	probably damaging	1.00
R6116:Ttc41	UTSW	10	86759088	critical splice acceptor site	probably null
R6247:Ttc41	UTSW	10	86776663	missense	probably benign	0.00
R6260:Ttc41	UTSW	10	86731159	missense	probably benign	0.20
R6260:Ttc41	UTSW	10	86733707	missense	probably benign	0.32
R6276:Ttc41	UTSW	10	86744449	missense	probably benign	0.01
R6458:Ttc41	UTSW	10	86758270	missense	possibly damaging	0.45
R7170:Ttc41	UTSW	10	86713503	missense	probably benign	0.17
R7348:Ttc41	UTSW	10	86750348	nonsense	probably null
R7382:Ttc41	UTSW	10	86776510	missense	probably damaging	0.97
R7509:Ttc41	UTSW	10	86713432	missense	probably damaging	1.00
R7689:Ttc41	UTSW	10	86759224	missense	probably damaging	1.00
R7807:Ttc41	UTSW	10	86776631	missense	probably benign	0.02
R7926:Ttc41	UTSW	10	86776047	missense	probably benign	0.10
R7998:Ttc41	UTSW	10	86736847	missense	probably benign	0.01
R8021:Ttc41	UTSW	10	86733714	missense	probably benign
R8059:Ttc41	UTSW	10	86712978	missense	probably benign	0.01
R8170:Ttc41	UTSW	10	86776166	missense	probably damaging	1.00
R8303:Ttc41	UTSW	10	86719630	missense	probably benign	0.06
R8375:Ttc41	UTSW	10	86763980	missense	probably damaging	0.97
R8383:Ttc41	UTSW	10	86719526	missense	probably benign	0.00
R8698:Ttc41	UTSW	10	86712977	missense	probably benign	0.00
R8773:Ttc41	UTSW	10	86729815	missense	probably benign	0.35
R8902:Ttc41	UTSW	10	86713001	missense	probably benign	0.06
R8985:Ttc41	UTSW	10	86731092	missense	possibly damaging	0.80
R8988:Ttc41	UTSW	10	86713735	missense	possibly damaging	0.88
R9007:Ttc41	UTSW	10	86733761	missense	probably damaging	1.00
R9137:Ttc41	UTSW	10	86776622	missense	probably benign	0.22
R9236:Ttc41	UTSW	10	86776730	missense	probably damaging	1.00
R9248:Ttc41	UTSW	10	86731249	missense	probably benign	0.00
R9287:Ttc41	UTSW	10	86763966	missense	probably benign	0.43
R9345:Ttc41	UTSW	10	86759225	missense	probably damaging	0.99
R9386:Ttc41	UTSW	10	86713026	missense	probably damaging	0.99
R9500:Ttc41	UTSW	10	86729862	missense	probably benign	0.03
R9570:Ttc41	UTSW	10	86713734	missense	possibly damaging	0.88
R9593:Ttc41	UTSW	10	86713185	missense	probably benign	0.24
X0024:Ttc41	UTSW	10	86724250	missense	probably damaging	1.00
X0064:Ttc41	UTSW	10	86729797	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGCAATGTCTCCAATAGGCG -3'
(R):5'- ATCTTCAACCCAGCGCTTCAG -3'

Sequencing Primer
(F):5'- GTCTCCAATAGGCGAAAGATTTCTCC -3'
(R):5'- GAATCAACTCCCAGAGCTCCTG -3'

Posted On

2016-03-17