Mutagenetix > Incidental Mutations

Incidental Mutation 'R9248:Ttc41'

701372

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9248 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86705811-86776844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86731249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 593 (L593Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075059 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075632
AA Change: L593Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: L593Q

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: L593Q

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 119,153,934	N132S	probably benign	Het
Agpat2	A	G	2: 26,593,589	*279Q	probably null	Het
Akr1c19	C	A	13: 4,242,975	D243E	probably benign	Het
Alg2	A	G	4: 47,474,001	F96L	probably benign	Het
Apob	C	T	12: 8,015,231	Q4067*	probably null	Het
C8a	T	C	4: 104,846,002	Y330C	probably damaging	Het
Ccdc185	A	G	1: 182,748,656	V156A	probably benign	Het
Ces1g	A	G	8: 93,333,691	L100P	possibly damaging	Het
Cnbd1	T	C	4: 18,862,113	N359S	possibly damaging	Het
Crybb2	C	T	5: 113,063,228	A65T	probably benign	Het
Dcaf5	T	C	12: 80,339,789	D521G	probably benign	Het
Dnmt1	A	G	9: 20,922,112	F631L	possibly damaging	Het
Dok1	T	A	6: 83,031,912	D263V	possibly damaging	Het
Ecel1	A	G	1: 87,153,390	F293L	probably benign	Het
Ehmt1	A	T	2: 24,848,065	L509Q	possibly damaging	Het
Fbln2	T	A	6: 91,254,574	V551E	possibly damaging	Het
Fig4	C	T	10: 41,277,482	V108I	probably benign	Het
Gpa33	A	G	1: 166,163,827	Y209C	probably damaging	Het
Heatr5a	T	C	12: 51,916,243	H52R		Het
Heatr9	A	T	11: 83,518,455	D157E	possibly damaging	Het
Jakmip2	A	C	18: 43,552,177	M682R	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Layn	A	G	9: 51,057,460	S328P	possibly damaging	Het
Mblac2	A	G	13: 81,711,650	D41G	probably damaging	Het
Mboat1	A	G	13: 30,226,409	Y283C	probably damaging	Het
Mdga2	A	G	12: 66,689,452	V334A	possibly damaging	Het
Mroh4	C	T	15: 74,613,318	R515H	possibly damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nsrp1	G	A	11: 77,046,210	R387W	probably benign	Het
Olfr483	T	C	7: 108,104,049	S247P	probably damaging	Het
Olfr894	T	C	9: 38,219,410	Y193H	probably benign	Het
Ostm1	T	C	10: 42,698,214	V301A	probably damaging	Het
Pcdhb13	A	T	18: 37,444,555	D662V	probably damaging	Het
Pfpl	T	A	19: 12,429,010	S208R	probably damaging	Het
Plin5	A	T	17: 56,112,324	V366E	probably damaging	Het
Rmi1	A	G	13: 58,409,085	I383V	probably benign	Het
Rnh1	T	C	7: 141,160,801	T414A	probably benign	Het
Sash1	C	A	10: 8,741,532	G537W	probably damaging	Het
Slc9c1	A	G	16: 45,550,188	N264S	probably benign	Het
Speg	A	C	1: 75,421,776	T1956P	probably damaging	Het
St14	T	C	9: 31,091,609	Y666C	probably damaging	Het
Stab2	T	A	10: 86,891,617	H1448L	probably damaging	Het
Taf9	T	A	13: 100,654,352		probably benign	Het
Thumpd2	G	A	17: 81,026,611	A516V	possibly damaging	Het
Tmem132e	A	G	11: 82,444,482	K797E	probably damaging	Het
Tpte	A	G	8: 22,351,473	T494A	possibly damaging	Het
Uggt1	A	C	1: 36,210,022	I279S	possibly damaging	Het
Uxs1	A	G	1: 43,764,924	F277S	probably damaging	Het
Vat1	A	T	11: 101,460,554	N320K	possibly damaging	Het
Wdr81	G	T	11: 75,445,430	A592E		Het
Zfp780b	C	T	7: 27,973,718		probably null	Het
Zfp944	A	T	17: 22,343,638		probably null	Het
Zfp956	G	T	6: 47,957,503	G136W	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
R4884:Ttc41	UTSW	10	86731018	missense	probably benign	0.00
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
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
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'- AAGCTCGCAATCATCGCCAG -3'
(R):5'- GAGCTGTTACTAAACTGAGAAAGGTC -3'

Sequencing Primer
(F):5'- GCAATGAGTTCCAGTGTC -3'
(R):5'- TGAGTCCAGCCTGGTCTACATAAG -3'

Posted On

2022-03-25