Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02186:Celf6'

283664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Celf6

Ensembl Gene

ENSMUSG00000032297

Gene Name

CUGBP, Elav-like family member 6

Synonyms

6330569O16Rik, Brunol6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02186

Quality Score

Status

Chromosome

Chromosomal Location

59485200-59514575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59510808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 205 (S205P)

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: S320P

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

SMART Domains

Protein: ENSMUSP00000034840
Gene: ENSMUSG00000032297
AA Change: S320P

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: S205P

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

SMART Domains

Protein: ENSMUSP00000112403
Gene: ENSMUSG00000032297
AA Change: S205P

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: S320P

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

SMART Domains

Protein: ENSMUSP00000112755
Gene: ENSMUSG00000032297
AA Change: S320P

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 damaging
Transcript: ENSMUST00000121266
AA Change: S205P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113196
Gene: ENSMUSG00000032297
AA Change: S205P

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

Coding Region Coverage

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,811 (GRCm39)	F100S	unknown	Het
Abca3	A	G	17: 24,596,714 (GRCm39)	Y389C	possibly damaging	Het
Acrbp	G	T	6: 125,031,773 (GRCm39)		probably null	Het
Adam21	G	A	12: 81,605,983 (GRCm39)	T593I	possibly damaging	Het
Adipor1	T	A	1: 134,353,698 (GRCm39)	M161K	probably benign	Het
Agrp	A	T	8: 106,293,821 (GRCm39)	N48K	probably benign	Het
Asprv1	A	T	6: 86,605,900 (GRCm39)	M249L	probably damaging	Het
Begain	A	G	12: 108,999,278 (GRCm39)	Y703H	probably damaging	Het
Bspry	T	A	4: 62,414,226 (GRCm39)		probably benign	Het
Cct8l1	T	G	5: 25,721,836 (GRCm39)	S184A	probably benign	Het
Cdk13	C	T	13: 17,947,112 (GRCm39)	V549I	probably benign	Het
Cdyl2	C	T	8: 117,306,025 (GRCm39)	R412Q	possibly damaging	Het
Cltc	G	A	11: 86,595,811 (GRCm39)	A1263V	possibly damaging	Het
Cltc	C	A	11: 86,595,812 (GRCm39)	A1263S	possibly damaging	Het
Ctnnd2	T	A	15: 30,480,939 (GRCm39)	F62L	probably damaging	Het
Dlec1	T	A	9: 118,972,695 (GRCm39)	C1473S	probably benign	Het
Dmbt1	T	A	7: 130,694,986 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,856,896 (GRCm39)	V176I	probably benign	Het
Dusp1	G	T	17: 26,726,032 (GRCm39)	Y220*	probably null	Het
Enpp3	A	C	10: 24,667,881 (GRCm39)		probably benign	Het
Exosc10	T	C	4: 148,649,755 (GRCm39)	L395P	probably damaging	Het
Fn1	T	C	1: 71,677,693 (GRCm39)	K533R	probably damaging	Het
Gcm2	T	A	13: 41,258,125 (GRCm39)	T168S	possibly damaging	Het
Gm9924	C	A	5: 31,252,491 (GRCm39)		probably benign	Het
Ifrd1	A	G	12: 40,264,092 (GRCm39)	V101A	probably benign	Het
Iqsec1	G	T	6: 90,653,859 (GRCm39)	Q629K	probably damaging	Het
Kcnma1	T	A	14: 23,576,881 (GRCm39)	M254L	probably benign	Het
Krit1	T	C	5: 3,859,733 (GRCm39)		probably benign	Het
Letm1	T	C	5: 33,902,391 (GRCm39)	K633E	probably benign	Het
Mfsd1	A	G	3: 67,503,928 (GRCm39)	I307V	probably benign	Het
Mtrr	T	C	13: 68,712,476 (GRCm39)	T637A	probably benign	Het
Naxe	C	A	3: 87,964,305 (GRCm39)	D212Y	probably damaging	Het
Nlk	A	T	11: 78,477,762 (GRCm39)	V327D	probably damaging	Het
Or2f1b	A	G	6: 42,739,880 (GRCm39)	K298R	probably null	Het
Or5w11	A	T	2: 87,459,715 (GRCm39)	I187F	probably benign	Het
Pdzd8	C	T	19: 59,289,060 (GRCm39)	G780D	probably damaging	Het
Prune1	T	C	3: 95,166,548 (GRCm39)		probably benign	Het
Qser1	A	T	2: 104,618,606 (GRCm39)	H645Q	probably damaging	Het
Rd3l	A	G	12: 111,945,901 (GRCm39)	Y193H	probably benign	Het
Reln	A	G	5: 22,114,956 (GRCm39)	Y3119H	probably damaging	Het
Scel	C	T	14: 103,802,257 (GRCm39)	A219V	probably benign	Het
Skint11	A	T	4: 114,101,833 (GRCm39)	Q91L	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc5a5	C	A	8: 71,338,764 (GRCm39)	D516Y	possibly damaging	Het
Slc8b1	G	A	5: 120,665,928 (GRCm39)		probably null	Het
Slc9a3	A	G	13: 74,311,233 (GRCm39)	E576G	possibly damaging	Het
Slco1b2	A	T	6: 141,580,271 (GRCm39)		probably benign	Het
Smc5	A	G	19: 23,209,223 (GRCm39)	V647A	probably damaging	Het
Snph	T	C	2: 151,436,263 (GRCm39)	N222D	possibly damaging	Het
Srbd1	A	G	17: 86,416,659 (GRCm39)	F500L	probably benign	Het
Stxbp6	T	C	12: 44,948,806 (GRCm39)	D101G	probably damaging	Het
Taar7b	A	G	10: 23,875,879 (GRCm39)	I15V	probably benign	Het
Tdrd12	G	T	7: 35,200,826 (GRCm39)	N338K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem219	A	T	7: 126,495,988 (GRCm39)	D128E	probably benign	Het
Togaram2	A	G	17: 71,992,166 (GRCm39)	T3A	possibly damaging	Het
Ttn	C	T	2: 76,724,627 (GRCm39)		probably benign	Het
Uchl1	C	A	5: 66,834,382 (GRCm39)	C47*	probably null	Het
Unc79	T	G	12: 102,977,542 (GRCm39)	S182A	probably benign	Het
Vmn2r1	A	G	3: 63,989,138 (GRCm39)	T26A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vps54	T	C	11: 21,256,947 (GRCm39)	V685A	probably damaging	Het
Zcchc7	T	G	4: 44,762,250 (GRCm39)	V126G	possibly damaging	Het
Zmym2	A	G	14: 57,180,808 (GRCm39)	T907A	probably benign	Het

Other mutations in Celf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03172:Celf6	APN	9	59,489,565 (GRCm39)	missense	probably damaging	1.00
R0119:Celf6	UTSW	9	59,510,161 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16