Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Celf6'

20984

Institutional Source

Beutler Lab

Gene Symbol

Celf6

Ensembl Gene

ENSMUSG00000032297

Gene Name

CUGBP, Elav-like family member 6

Synonyms

6330569O16Rik, Brunol6

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0119 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

59485200-59514575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59510161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 86 (T86K)

Ref Sequence

ENSEMBL: ENSMUSP00000113196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034840] [ENSMUST00000118164] [ENSMUST00000118549] [ENSMUST00000121266] [ENSMUST00000129357] [ENSMUST00000143916]

AlphaFold

Q7TN33

Predicted Effect

probably benign
Transcript: ENSMUST00000034840
AA Change: T201K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034840
Gene: ENSMUSG00000032297
AA Change: T201K

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
RRM	47	123	2.16e-19	SMART
RRM	135	210	1.05e-17	SMART
low complexity region	252	294	N/A	INTRINSIC
low complexity region	298	312	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC
RRM	376	449	7.35e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118164
AA Change: T86K

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

SMART Domains

Protein: ENSMUSP00000112403
Gene: ENSMUSG00000032297
AA Change: T86K

Domain	Start	End	E-Value	Type
RRM	20	95	1.05e-17	SMART
low complexity region	137	179	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	225	238	N/A	INTRINSIC
RRM	260	333	7.35e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118549
AA Change: T201K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112755
Gene: ENSMUSG00000032297
AA Change: T201K

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
RRM	47	123	2.16e-19	SMART
RRM	135	210	1.05e-17	SMART
low complexity region	252	294	N/A	INTRINSIC
low complexity region	298	312	N/A	INTRINSIC
low complexity region	356	375	N/A	INTRINSIC
RRM	397	470	7.35e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121266
AA Change: T86K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113196
Gene: ENSMUSG00000032297
AA Change: T86K

Domain	Start	End	E-Value	Type
RRM	20	95	1.05e-17	SMART
low complexity region	137	179	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	225	239	N/A	INTRINSIC
RRM	261	334	7.35e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129357

SMART Domains

Protein: ENSMUSP00000122167
Gene: ENSMUSG00000032297

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
RRM	47	121	1e-14	SMART
low complexity region	138	149	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129728

Predicted Effect

probably benign
Transcript: ENSMUST00000143916

SMART Domains

Protein: ENSMUSP00000118556
Gene: ENSMUSG00000032297

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
RRM	47	123	2.16e-19	SMART
Pfam:RRM_1	136	177	1.5e-7	PFAM
Pfam:RRM_6	136	177	3.7e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146503

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ultrasonic vocalization, decreased brain serotonin levels, and selective behavioral deficits including an abnormal response to novel odor. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Per3	A	G	4: 151,109,005 (GRCm39)		probably benign	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Celf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02186:Celf6	APN	9	59,510,808 (GRCm39)	missense	probably damaging	0.98
IGL03172:Celf6	APN	9	59,489,565 (GRCm39)	missense	probably damaging	1.00
R0299:Celf6	UTSW	9	59,510,161 (GRCm39)	missense	probably benign	0.00
R0499:Celf6	UTSW	9	59,510,161 (GRCm39)	missense	probably benign	0.00
R1188:Celf6	UTSW	9	59,497,961 (GRCm39)	missense	probably benign	0.34
R1543:Celf6	UTSW	9	59,511,160 (GRCm39)	splice site	probably benign
R2198:Celf6	UTSW	9	59,510,622 (GRCm39)	missense	possibly damaging	0.95
R2207:Celf6	UTSW	9	59,511,610 (GRCm39)	missense	possibly damaging	0.93
R4460:Celf6	UTSW	9	59,510,327 (GRCm39)	missense	probably damaging	1.00
R6908:Celf6	UTSW	9	59,511,106 (GRCm39)	missense	probably benign	0.05
R8788:Celf6	UTSW	9	59,485,750 (GRCm39)	missense	possibly damaging	0.73
R8993:Celf6	UTSW	9	59,510,154 (GRCm39)	missense	probably damaging	0.97
R9393:Celf6	UTSW	9	59,510,525 (GRCm39)	missense	probably benign	0.33
R9641:Celf6	UTSW	9	59,485,833 (GRCm39)	missense	probably damaging	1.00
R9662:Celf6	UTSW	9	59,485,668 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCCTGGGATTTCCCTGGGATGAC -3'
(R):5'- GCTACCTACCGCAGTGGTATAGGC -3'

Sequencing Primer
(F):5'- TGGGATGACCCTTTCTTAGC -3'
(R):5'- GCCAGCCATTTGCTGCATC -3'

Posted On

2013-04-11