Mutagenetix > Incidental Mutation

Incidental Mutation 'R9248:Ttc41'

701372

Institutional Source

Beutler Lab

Gene Symbol

Ttc41

Ensembl Gene

ENSMUSG00000044937

Gene Name

tetratricopeptide repeat domain 41

Synonyms

Gnn, BC030307

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9248 (G1)

Quality Score

225.009

Status

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

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 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
C1ra	A	T	6: 124,512,621		probably benign	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
Syne2	C	T	12: 76,107,456		probably benign	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
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'- AAGCTCGCAATCATCGCCAG -3'
(R):5'- GAGCTGTTACTAAACTGAGAAAGGTC -3'

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

Posted On

2022-03-25