Mutagenetix > Incidental Mutation

Incidental Mutation 'R9109:Tcp11l1'

692121

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l1

Ensembl Gene

ENSMUSG00000027175

Gene Name

t-complex 11 like 1

Synonyms

C130096D04Rik

MMRRC Submission

068918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R9109 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104497587-104542525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104528897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 134 (V134I)

Ref Sequence

ENSEMBL: ENSMUSP00000028597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028597] [ENSMUST00000111118]

AlphaFold

Q8BTG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028597
AA Change: V134I

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: V134I

Domain	Start	End	E-Value	Type
low complexity region	12	30	N/A	INTRINSIC
Pfam:Tcp11	78	502	3.9e-105	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111118
AA Change: V134I

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: V134I

Domain	Start	End	E-Value	Type
low complexity region	12	30	N/A	INTRINSIC
Pfam:Tcp11	77	505	5.2e-134	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,198,923 (GRCm39)	A110D	probably benign	Het
4930407I10Rik	A	G	15: 81,947,615 (GRCm39)	E504G	probably benign	Het
4931406B18Rik	C	A	7: 43,148,702 (GRCm39)	A170S		Het
Apbb2	T	C	5: 66,609,018 (GRCm39)	K210E	probably benign	Het
Arid4a	C	A	12: 71,122,129 (GRCm39)	L515I	probably damaging	Het
Atp13a3	A	G	16: 30,134,716 (GRCm39)	S1186P	possibly damaging	Het
Brf1	A	G	12: 112,927,011 (GRCm39)	Y500H	probably damaging	Het
Btaf1	A	G	19: 36,964,114 (GRCm39)	Y895C	probably benign	Het
Cdhr17	T	A	5: 16,997,909 (GRCm39)	V47E	possibly damaging	Het
Cenpf	T	C	1: 189,391,571 (GRCm39)	T737A	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Col18a1	G	A	10: 76,893,204 (GRCm39)	T1057M	probably damaging	Het
Col1a2	T	A	6: 4,515,260 (GRCm39)		probably null	Het
Csmd3	A	C	15: 47,617,187 (GRCm39)	H1000Q		Het
Cyp4a29	T	A	4: 115,108,395 (GRCm39)	M373K	probably damaging	Het
Dnhd1	A	G	7: 105,333,173 (GRCm39)	E215G	probably damaging	Het
Dusp19	T	C	2: 80,447,729 (GRCm39)	M1T	probably null	Het
Etv4	A	G	11: 101,664,492 (GRCm39)	Y253H	probably benign	Het
Exosc6	G	A	8: 111,783,513 (GRCm39)	A171T	probably damaging	Het
Fam219a	G	A	4: 41,521,870 (GRCm39)	T70M	probably damaging	Het
Fau	G	A	19: 6,108,297 (GRCm39)	R6H	probably benign	Het
Flrt3	T	C	2: 140,501,879 (GRCm39)	D583G	probably damaging	Het
Gm14443	A	T	2: 175,011,869 (GRCm39)	C192*	probably null	Het
Gm4353	T	A	7: 115,682,843 (GRCm39)	N246I	probably benign	Het
Igfn1	A	G	1: 135,926,327 (GRCm39)	L41P	probably benign	Het
Jakmip3	A	T	7: 138,622,560 (GRCm39)	I307F	probably damaging	Het
Kcnt2	T	A	1: 140,353,035 (GRCm39)	V248D	probably damaging	Het
Kctd14	A	G	7: 97,107,243 (GRCm39)	K166R	probably benign	Het
Kdm5b	T	C	1: 134,528,493 (GRCm39)		probably null	Het
Kif5c	A	G	2: 49,620,151 (GRCm39)	D461G	probably damaging	Het
Lpin2	T	C	17: 71,538,516 (GRCm39)		probably null	Het
Mettl22	G	A	16: 8,305,231 (GRCm39)	D295N	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Or10a5	A	T	7: 106,635,640 (GRCm39)	I93F	probably damaging	Het
Or5b95	T	A	19: 12,658,190 (GRCm39)	C239*	probably null	Het
Or5k8	A	T	16: 58,644,677 (GRCm39)	Y132N	probably damaging	Het
Pecam1	G	T	11: 106,586,587 (GRCm39)	N309K	probably damaging	Het
Pigc	C	T	1: 161,798,032 (GRCm39)	R5C	probably benign	Het
Pih1d1	T	C	7: 44,809,193 (GRCm39)	V259A	possibly damaging	Het
Ptpre	A	G	7: 135,271,508 (GRCm39)	I374M	probably benign	Het
Rnps1	A	G	17: 24,637,573 (GRCm39)	S72G	unknown	Het
S100pbp	A	G	4: 129,044,847 (GRCm39)	Y363H	probably damaging	Het
Sema5a	A	G	15: 32,619,040 (GRCm39)	T523A	probably benign	Het
Slc38a8	A	G	8: 120,212,851 (GRCm39)	F270S	possibly damaging	Het
Slc4a1ap	T	C	5: 31,693,538 (GRCm39)	S491P	probably damaging	Het
Slc66a2	T	C	18: 80,300,300 (GRCm39)	L57P	probably damaging	Het
Slc7a6	T	C	8: 106,922,534 (GRCm39)	V440A	probably damaging	Het
Sobp	A	T	10: 42,898,902 (GRCm39)	C228S	probably damaging	Het
Sox8	T	C	17: 25,787,813 (GRCm39)	D212G	possibly damaging	Het
Specc1	A	G	11: 62,102,464 (GRCm39)		probably null	Het
Svop	G	A	5: 114,168,231 (GRCm39)	T456M	probably benign	Het
Synrg	A	G	11: 83,900,278 (GRCm39)	D750G	probably damaging	Het
Syt14	C	A	1: 192,612,944 (GRCm39)	E336*	probably null	Het
Tcp10c	A	T	17: 13,576,650 (GRCm39)	Q76H	probably damaging	Het
Tex51	T	C	18: 32,594,029 (GRCm39)	R110G	possibly damaging	Het
Tle3	T	A	9: 61,319,562 (GRCm39)	H443Q	possibly damaging	Het
Unc13a	C	T	8: 72,108,335 (GRCm39)	R506Q	possibly damaging	Het
Vmn2r27	T	C	6: 124,174,224 (GRCm39)	Y542C	possibly damaging	Het
Vmn2r5	T	G	3: 64,411,411 (GRCm39)	N386H	possibly damaging	Het
Vmn2r91	A	G	17: 18,327,905 (GRCm39)	I500V	probably damaging	Het
Wdfy4	A	T	14: 32,760,704 (GRCm39)		probably null	Het
Zfp709	A	T	8: 72,644,648 (GRCm39)	E692D	possibly damaging	Het
Zglp1	A	T	9: 20,977,482 (GRCm39)	L111Q	probably benign	Het

Other mutations in Tcp11l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Tcp11l1	APN	2	104,536,831 (GRCm39)	missense	probably benign
IGL01999:Tcp11l1	APN	2	104,528,914 (GRCm39)	missense	possibly damaging	0.61
IGL02792:Tcp11l1	APN	2	104,512,165 (GRCm39)	missense	probably benign	0.19
R0376:Tcp11l1	UTSW	2	104,527,850 (GRCm39)	splice site	probably benign
R0683:Tcp11l1	UTSW	2	104,512,237 (GRCm39)	missense	possibly damaging	0.90
R0828:Tcp11l1	UTSW	2	104,530,181 (GRCm39)	splice site	probably benign
R2091:Tcp11l1	UTSW	2	104,514,484 (GRCm39)	missense	possibly damaging	0.77
R2095:Tcp11l1	UTSW	2	104,512,185 (GRCm39)	missense	probably damaging	1.00
R3750:Tcp11l1	UTSW	2	104,528,887 (GRCm39)	missense	probably damaging	1.00
R4456:Tcp11l1	UTSW	2	104,514,567 (GRCm39)	missense	probably damaging	1.00
R4926:Tcp11l1	UTSW	2	104,512,130 (GRCm39)	missense	probably benign	0.01
R5184:Tcp11l1	UTSW	2	104,530,289 (GRCm39)	missense	probably damaging	1.00
R5461:Tcp11l1	UTSW	2	104,518,856 (GRCm39)	missense	probably benign	0.00
R6979:Tcp11l1	UTSW	2	104,536,784 (GRCm39)	missense	probably benign
R7387:Tcp11l1	UTSW	2	104,530,275 (GRCm39)	missense	possibly damaging	0.92
R7443:Tcp11l1	UTSW	2	104,514,480 (GRCm39)	missense	probably benign	0.01
R7872:Tcp11l1	UTSW	2	104,536,837 (GRCm39)	missense	probably benign	0.25
R7940:Tcp11l1	UTSW	2	104,528,993 (GRCm39)	missense	probably damaging	1.00
R8399:Tcp11l1	UTSW	2	104,515,720 (GRCm39)	missense	probably benign	0.09
R8431:Tcp11l1	UTSW	2	104,530,314 (GRCm39)	missense	probably damaging	0.96
R8445:Tcp11l1	UTSW	2	104,512,278 (GRCm39)	missense	probably benign	0.02
R8810:Tcp11l1	UTSW	2	104,518,763 (GRCm39)	missense	probably benign	0.00
R8988:Tcp11l1	UTSW	2	104,536,853 (GRCm39)	missense	probably damaging	1.00
R9057:Tcp11l1	UTSW	2	104,528,026 (GRCm39)	missense	probably damaging	1.00
R9298:Tcp11l1	UTSW	2	104,528,897 (GRCm39)	missense	possibly damaging	0.67
V8831:Tcp11l1	UTSW	2	104,515,829 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTCAGGTTATCATGACTTGGTG -3'
(R):5'- GGCAAAGTAAATAGTTGTGTCATCAGC -3'

Sequencing Primer
(F):5'- TAACCTTGGGGCCCTTAA -3'
(R):5'- GATTGCTTGAGTGTCCAGT -3'

Posted On

2021-12-30