Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Tcp11l1'

608157

Institutional Source

Beutler Lab

Gene Symbol

Tcp11l1

Ensembl Gene

ENSMUSG00000027175

Gene Name

t-complex 11 like 1

Synonyms

MMRRC Submission

045924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104657288-104712169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104706492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 9 (H9Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028597 (fasta)

Gene Model

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

AlphaFold

Q8BTG3

Predicted Effect

probably benign
Transcript: ENSMUST00000028597
AA Change: H9Q

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: H9Q

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: H9Q

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: H9Q

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,439	D290N	probably damaging	Het
Adam18	T	C	8: 24,611,100	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,843	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,665,386	K305I	probably damaging	Het
Atrn	T	A	2: 130,970,227		probably null	Het
Bambi	A	T	18: 3,511,406	T76S	probably benign	Het
Cacna1a	T	A	8: 84,583,654	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Clcn2	A	G	16: 20,708,460	M629T	probably damaging	Het
Clcn4	T	C	7: 7,287,781	N673S	probably benign	Het
Col20a1	T	C	2: 180,986,578	F15S	probably benign	Het
Col2a1	G	A	15: 98,000,577	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,684	D556A	probably damaging	Het
Edar	C	T	10: 58,610,526	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,448,360	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699	V471I	not run	Het
Fer1l5	T	C	1: 36,421,886	F2032L	probably benign	Het
Gm5150	A	C	3: 16,006,321	M1R	probably null	Het
Grin1	T	C	2: 25,298,190	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,704,929		probably benign	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,966,275	Y74H	probably damaging	Het
Kpna1	T	C	16: 36,023,195	V313A	probably benign	Het
Lrp4	C	T	2: 91,490,716	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,353,462	C3S	probably damaging	Het
Lyst	C	A	13: 13,635,865	H707N	probably benign	Het
Map3k20	A	G	2: 72,371,754	K148R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Mocs1	T	A	17: 49,439,533	I177N	probably damaging	Het
Muc5b	A	G	7: 141,846,113	D441G	unknown	Het
Ncoa1	T	C	12: 4,278,186	N884S	probably benign	Het
Olfr33	A	G	7: 102,714,182	V77A	probably benign	Het
Olfr533	A	G	7: 140,466,783	N194S	probably damaging	Het
Padi6	A	T	4: 140,727,762	F621L	probably damaging	Het
Pde8b	C	A	13: 95,086,839	M197I	possibly damaging	Het
Pear1	T	A	3: 87,752,215	I771L	probably benign	Het
Poli	A	G	18: 70,522,820	L281P	probably damaging	Het
Prdm12	T	C	2: 31,640,219	W41R	probably damaging	Het
Prkdc	T	G	16: 15,715,006	S1500A	probably benign	Het
Prune2	T	A	19: 17,119,434	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,234,544	Q196*	probably null	Het
Rnpc3	A	T	3: 113,622,447	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724	M1V	probably null	Het
Ryr2	T	A	13: 11,595,724	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,125,365	H314R	probably damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc37a3	A	T	6: 39,347,310	Y335N	probably damaging	Het
Tnrc6a	T	A	7: 123,179,834	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,909	N126S	probably damaging	Het
Ubr4	T	C	4: 139,393,062	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,069,737	V424A	possibly damaging	Het
Utrn	T	C	10: 12,698,129	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,556,234	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,220,614	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 20,101,914	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,221,353	H118L	probably benign	Het
Zcchc11	T	G	4: 108,517,518	C933G	probably damaging	Het
Zfp775	A	G	6: 48,620,470	K426R	probably benign	Het

Other mutations in Tcp11l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Tcp11l1	APN	2	104706486	missense	probably benign
IGL01999:Tcp11l1	APN	2	104698569	missense	possibly damaging	0.61
IGL02792:Tcp11l1	APN	2	104681820	missense	probably benign	0.19
R0376:Tcp11l1	UTSW	2	104697505	splice site	probably benign
R0683:Tcp11l1	UTSW	2	104681892	missense	possibly damaging	0.90
R0828:Tcp11l1	UTSW	2	104699836	splice site	probably benign
R2091:Tcp11l1	UTSW	2	104684139	missense	possibly damaging	0.77
R2095:Tcp11l1	UTSW	2	104681840	missense	probably damaging	1.00
R3750:Tcp11l1	UTSW	2	104698542	missense	probably damaging	1.00
R4456:Tcp11l1	UTSW	2	104684222	missense	probably damaging	1.00
R4926:Tcp11l1	UTSW	2	104681785	missense	probably benign	0.01
R5184:Tcp11l1	UTSW	2	104699944	missense	probably damaging	1.00
R5461:Tcp11l1	UTSW	2	104688511	missense	probably benign	0.00
R6979:Tcp11l1	UTSW	2	104706439	missense	probably benign
R7387:Tcp11l1	UTSW	2	104699930	missense	possibly damaging	0.92
R7443:Tcp11l1	UTSW	2	104684135	missense	probably benign	0.01
R7940:Tcp11l1	UTSW	2	104698648	missense	probably damaging	1.00
R8399:Tcp11l1	UTSW	2	104685375	missense	probably benign	0.09
R8431:Tcp11l1	UTSW	2	104699969	missense	probably damaging	0.96
R8445:Tcp11l1	UTSW	2	104681933	missense	probably benign	0.02
R8810:Tcp11l1	UTSW	2	104688418	missense	probably benign	0.00
R8988:Tcp11l1	UTSW	2	104706508	missense	probably damaging	1.00
R9057:Tcp11l1	UTSW	2	104697681	missense	probably damaging	1.00
R9109:Tcp11l1	UTSW	2	104698552	missense	possibly damaging	0.67
R9298:Tcp11l1	UTSW	2	104698552	missense	possibly damaging	0.67
V8831:Tcp11l1	UTSW	2	104685484	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCCACGGTAGTGCTTTTAATC -3'
(R):5'- ATGCCCATGACTTACAGGCG -3'

Sequencing Primer
(F):5'- CAAAGTCAGATTTGCTTACAGTGAGG -3'
(R):5'- ATGACTTACAGGCGCCATTG -3'

Posted On

2019-12-20