Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Ttc7b'

684496

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

MMRRC Submission

068823-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100300770-100520826 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100500174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 60 (K60E)

Ref Sequence

ENSEMBL: ENSMUSP00000052107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062957] [ENSMUST00000223020]

AlphaFold

E9Q6P5

Predicted Effect

probably benign
Transcript: ENSMUST00000062957
AA Change: K60E

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

SMART Domains

Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: K60E

Domain	Start	End	E-Value	Type
TPR	397	430	8.76e-1	SMART
Blast:TPR	471	514	5e-9	BLAST
TPR	515	548	2.77e1	SMART
TPR	549	582	2.01e0	SMART
TPR	696	729	9.7e0	SMART
TPR	730	763	7.98e-4	SMART
TPR	764	797	6.1e0	SMART
TPR	798	831	2.74e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223020
AA Change: K60E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,451,618 (GRCm38)	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282 (GRCm38)	D4E	probably benign	Het
Atp5if1	T	C	4: 132,533,374 (GRCm38)	D34G	probably benign	Het
Bcr	T	C	10: 75,131,572 (GRCm38)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,182,032 (GRCm38)		probably null	Het
Ccdc141	A	T	2: 77,014,395 (GRCm38)	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589 (GRCm38)	D1375G	probably damaging	Het
Chi3l1	A	T	1: 134,187,924 (GRCm38)	Q223H	probably benign	Het
Clcn2	A	T	16: 20,712,330 (GRCm38)	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,235 (GRCm38)	D464V	probably benign	Het
Crygb	T	C	1: 65,082,141 (GRCm38)	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,925,390 (GRCm38)	K438E	unknown	Het
Cyp46a1	A	T	12: 108,358,107 (GRCm38)	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,776,756 (GRCm38)		probably benign	Het
Dnase2b	G	T	3: 146,586,962 (GRCm38)	P152Q	probably damaging	Het
Duox1	A	T	2: 122,344,705 (GRCm38)	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,613,359 (GRCm38)	A15V	probably benign	Het
Fam168b	A	G	1: 34,819,781 (GRCm38)	F102L	probably benign	Het
Fam3b	T	A	16: 97,476,394 (GRCm38)	D128V	probably damaging	Het
Galnt11	T	G	5: 25,264,985 (GRCm38)	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,610,969 (GRCm38)	R460S	probably benign	Het
Hdhd2	A	C	18: 76,970,670 (GRCm38)	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,401,114 (GRCm38)	M189T	probably damaging	Het
Ift70a1	A	T	2: 75,979,907 (GRCm38)	C611S	probably benign	Het
Ino80	A	G	2: 119,379,578 (GRCm38)	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,117,538 (GRCm38)	T467A	probably benign	Het
Kcnh2	A	G	5: 24,331,870 (GRCm38)	S239P	probably benign	Het
Lct	T	A	1: 128,300,562 (GRCm38)	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,629,884 (GRCm38)	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,871,490 (GRCm38)	D26E	probably benign	Het
Myh1	A	T	11: 67,205,781 (GRCm38)	M333L	probably benign	Het
Neurl4	T	C	11: 69,908,132 (GRCm38)	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,306,865 (GRCm38)	V80D	probably damaging	Het
Nop9	T	C	14: 55,745,981 (GRCm38)	S70P	possibly damaging	Het
Or2t46	A	G	11: 58,580,912 (GRCm38)	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,449,178 (GRCm38)	D446Y	probably damaging	Het
Pclo	C	T	5: 14,669,311 (GRCm38)	A1154V	unknown	Het
Pdgfa	G	T	5: 138,986,222 (GRCm38)	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,075,533 (GRCm38)	L1133F	probably damaging	Het
Pole	A	T	5: 110,323,622 (GRCm38)	N1411Y	possibly damaging	Het
Primpol	A	G	8: 46,581,562 (GRCm38)		probably benign	Het
Psmc5	T	G	11: 106,261,961 (GRCm38)	V203G	probably damaging	Het
Ptgdr	C	T	14: 44,858,724 (GRCm38)	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,907,295 (GRCm38)	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170 (GRCm38)	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,690,081 (GRCm38)	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,454,277 (GRCm38)	T857A	probably damaging	Het
Rnf24	A	G	2: 131,313,277 (GRCm38)	F10S	possibly damaging	Het
Rreb1	C	A	13: 37,930,376 (GRCm38)	S570R	probably benign	Het
Rttn	A	G	18: 88,977,708 (GRCm38)	N205S	probably benign	Het
Rusc1	T	C	3: 89,092,058 (GRCm38)	E139G	probably benign	Het
Scn2a	A	G	2: 65,763,898 (GRCm38)	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 107,047,177 (GRCm38)	M209L	probably damaging	Het
Shank3	A	G	15: 89,548,685 (GRCm38)	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,542,484 (GRCm38)	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,336,942 (GRCm38)	W548*	probably null	Het
Srfbp1	T	A	18: 52,476,320 (GRCm38)	L59*	probably null	Het
Ss18	A	T	18: 14,670,323 (GRCm38)	S73T	probably damaging	Het
Syne1	T	C	10: 5,185,508 (GRCm38)	K189R	probably benign	Het
Szt2	G	T	4: 118,382,788 (GRCm38)		probably benign	Het
Tbx1	T	A	16: 18,584,187 (GRCm38)	H183L	probably damaging	Het
Thop1	A	G	10: 81,080,138 (GRCm38)	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,850 (GRCm38)	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559 (GRCm38)	Y513H	probably damaging	Het
Top1	A	G	2: 160,721,001 (GRCm38)	D709G	probably damaging	Het
Tprg1l	A	C	4: 154,158,433 (GRCm38)	S247A	probably damaging	Het
Trim46	A	G	3: 89,236,385 (GRCm38)	S602P	probably damaging	Het
Ttn	G	A	2: 76,884,471 (GRCm38)	S8053F	unknown	Het
Tyw1	G	A	5: 130,269,224 (GRCm38)	R202Q	probably damaging	Het
Usp24	T	A	4: 106,377,565 (GRCm38)	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm38)	T761A	probably benign	Het
Xpc	G	A	6: 91,500,974 (GRCm38)	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,349,599 (GRCm38)	M129I	probably benign	Het
Zpld2	G	A	4: 134,202,667 (GRCm38)	T109I	probably damaging	Het

Other mutations in Ttc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Ttc7b	APN	12	100,376,213 (GRCm38)	missense	probably benign	0.03
IGL01377:Ttc7b	APN	12	100,355,112 (GRCm38)	missense	probably benign	0.21
IGL01617:Ttc7b	APN	12	100,385,956 (GRCm38)	missense	possibly damaging	0.94
IGL02928:Ttc7b	APN	12	100,403,415 (GRCm38)	missense	probably damaging	1.00
IGL03183:Ttc7b	APN	12	100,373,709 (GRCm38)	splice site	probably null
IGL03341:Ttc7b	APN	12	100,325,735 (GRCm38)	missense	possibly damaging	0.66
R0302:Ttc7b	UTSW	12	100,387,179 (GRCm38)	missense	possibly damaging	0.94
R0620:Ttc7b	UTSW	12	100,500,073 (GRCm38)	splice site	probably null
R0625:Ttc7b	UTSW	12	100,355,046 (GRCm38)	missense	probably benign	0.04
R1016:Ttc7b	UTSW	12	100,403,358 (GRCm38)	missense	probably null	1.00
R1131:Ttc7b	UTSW	12	100,382,119 (GRCm38)	critical splice donor site	probably null
R1241:Ttc7b	UTSW	12	100,403,439 (GRCm38)	missense	possibly damaging	0.90
R1710:Ttc7b	UTSW	12	100,403,408 (GRCm38)	missense	probably damaging	0.98
R1803:Ttc7b	UTSW	12	100,407,002 (GRCm38)	missense	possibly damaging	0.94
R1887:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R1920:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R1921:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R1922:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R2062:Ttc7b	UTSW	12	100,325,689 (GRCm38)	missense	probably damaging	1.00
R2239:Ttc7b	UTSW	12	100,355,001 (GRCm38)	critical splice donor site	probably null
R2380:Ttc7b	UTSW	12	100,355,001 (GRCm38)	critical splice donor site	probably null
R4581:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4582:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4598:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4599:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4600:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4601:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4779:Ttc7b	UTSW	12	100,403,362 (GRCm38)	missense	probably damaging	1.00
R5027:Ttc7b	UTSW	12	100,301,742 (GRCm38)	missense	probably damaging	1.00
R5244:Ttc7b	UTSW	12	100,348,010 (GRCm38)	missense	probably damaging	0.99
R5387:Ttc7b	UTSW	12	100,446,963 (GRCm38)	missense	possibly damaging	0.64
R5739:Ttc7b	UTSW	12	100,384,233 (GRCm38)	missense	probably damaging	1.00
R5997:Ttc7b	UTSW	12	100,373,560 (GRCm38)	missense	probably damaging	0.96
R6223:Ttc7b	UTSW	12	100,387,109 (GRCm38)	critical splice donor site	probably null
R6238:Ttc7b	UTSW	12	100,495,422 (GRCm38)	missense	probably benign	0.31
R6318:Ttc7b	UTSW	12	100,325,677 (GRCm38)	missense	probably damaging	0.99
R6494:Ttc7b	UTSW	12	100,495,407 (GRCm38)	missense	possibly damaging	0.73
R7153:Ttc7b	UTSW	12	100,355,034 (GRCm38)	missense	probably damaging	1.00
R8084:Ttc7b	UTSW	12	100,384,173 (GRCm38)	missense	probably damaging	1.00
R8132:Ttc7b	UTSW	12	100,446,872 (GRCm38)	missense	probably damaging	0.99
R8364:Ttc7b	UTSW	12	100,325,558 (GRCm38)	missense	probably benign	0.40
R8536:Ttc7b	UTSW	12	100,373,544 (GRCm38)	missense	possibly damaging	0.56
R8719:Ttc7b	UTSW	12	100,301,553 (GRCm38)	missense	probably damaging	0.99
R8932:Ttc7b	UTSW	12	100,301,763 (GRCm38)	missense	probably benign	0.00
R9674:Ttc7b	UTSW	12	100,466,294 (GRCm38)	missense	probably benign	0.24
R9731:Ttc7b	UTSW	12	100,495,424 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CTAAAGAAGACACGTGTGCGC -3'
(R):5'- GTTCTAAAGGTTCCAGAAGAGCC -3'

Sequencing Primer
(F):5'- TGTGCGCCAAACACACCTTG -3'
(R):5'- TTCCAGAAGAGCCTCGCCAG -3'

Posted On

2021-10-11