Mutagenetix > Incidental Mutation

Incidental Mutation 'R6979:Tcp11l1'

542602

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l1

Ensembl Gene

ENSMUSG00000027175

Gene Name

t-complex 11 like 1

Synonyms

C130096D04Rik

MMRRC Submission

045087-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6979 (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 104536784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 27 (G27D)

Ref Sequence

ENSEMBL: ENSMUSP00000106747 (fasta)

Gene Model

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

AlphaFold

Q8BTG3

Predicted Effect

probably benign
Transcript: ENSMUST00000028597
AA Change: G27D

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

SMART Domains

Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: G27D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111118
AA Change: G27D

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

SMART Domains

Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: G27D

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: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,947,424 (GRCm39)	T374M	probably benign	Het
Aspg	A	G	12: 112,087,378 (GRCm39)	D278G	possibly damaging	Het
Aspm	C	A	1: 139,408,223 (GRCm39)	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,702,873 (GRCm39)	M65T	probably damaging	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098 (GRCm39)	T279I	probably benign	Het
Ctdspl	G	A	9: 118,869,598 (GRCm39)	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,376 (GRCm39)	E99G	probably damaging	Het
Dapk1	T	C	13: 60,896,095 (GRCm39)	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,358,163 (GRCm39)	I512T	possibly damaging	Het
Dop1a	A	T	9: 86,403,695 (GRCm39)	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,037,992 (GRCm39)	D460G	probably damaging	Het
Foxg1	T	C	12: 49,431,567 (GRCm39)		probably benign	Het
H2-Q2	T	A	17: 35,564,623 (GRCm39)		probably null	Het
Hes6	T	C	1: 91,340,810 (GRCm39)	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,900,848 (GRCm39)	Y79C	possibly damaging	Het
Itfg2	T	C	6: 128,388,554 (GRCm39)	D311G	probably damaging	Het
Itgb5	T	A	16: 33,740,356 (GRCm39)	C489S	probably damaging	Het
Map4k5	A	T	12: 69,869,622 (GRCm39)	C488S	probably damaging	Het
Mark1	C	T	1: 184,644,825 (GRCm39)	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,412,096 (GRCm39)	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049 (GRCm39)	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,239,461 (GRCm39)	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,664,978 (GRCm39)	K264R	probably benign	Het
Mtor	A	G	4: 148,608,930 (GRCm39)	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,718,122 (GRCm39)		probably null	Het
Nwd1	C	T	8: 73,394,288 (GRCm39)	P517L	probably damaging	Het
Or4a27	T	A	2: 88,559,528 (GRCm39)	R138S	probably benign	Het
Or8h10	A	G	2: 86,808,577 (GRCm39)	S188P	probably damaging	Het
Polr1c	A	G	17: 46,557,095 (GRCm39)	F63L	probably damaging	Het
Polrmt	C	T	10: 79,582,400 (GRCm39)		probably null	Het
Pomt2	T	C	12: 87,177,125 (GRCm39)	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,610,342 (GRCm39)	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,341,545 (GRCm39)	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,335,189 (GRCm39)	F199L	probably benign	Het
Prpf38b	A	G	3: 108,818,640 (GRCm39)	V40A	probably benign	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,141,311 (GRCm39)	D586G	probably benign	Het
Slx4	T	C	16: 3,802,879 (GRCm39)	K1312E	probably damaging	Het
Smok3c	A	G	5: 138,062,987 (GRCm39)	D158G	probably benign	Het
Spen	A	T	4: 141,205,374 (GRCm39)	D1084E	unknown	Het
Tep1	A	G	14: 51,076,094 (GRCm39)	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,814,391 (GRCm39)	V322I	possibly damaging	Het
Tmpo	A	T	10: 90,988,359 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,555,137 (GRCm39)	A30623S	probably damaging	Het
Ube2l3	G	A	16: 16,977,841 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,418,890 (GRCm39)	D146G	probably damaging	Het
Vmn1r51	A	T	6: 90,106,186 (GRCm39)	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,576,265 (GRCm39)	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,136,927 (GRCm39)	G424C	probably benign	Het
Zfp420	T	A	7: 29,575,446 (GRCm39)	H555Q	probably damaging	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
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
R9109:Tcp11l1	UTSW	2	104,528,897 (GRCm39)	missense	possibly damaging	0.67
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'- TGCCAGTTGGGGAACTACTG -3'
(R):5'- AACGACAGCTAAGCATTGGC -3'

Sequencing Primer
(F):5'- AAGCACTGGTTATCTGGCC -3'
(R):5'- CTTAGTCAGTGACACTGGATGAACAC -3'

Posted On

2018-11-28