Mutagenetix > Incidental Mutation

Incidental Mutation 'R2902:C1qtnf1'

261521

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf1

Ensembl Gene

ENSMUSG00000017446

Gene Name

C1q and tumor necrosis factor related protein 1

Synonyms

1600017K21Rik, CTRP1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118319029-118340789 bp(+) (GRCm39)

Type of Mutation

splice site (4261 bp from exon)

DNA Base Change (assembly)

A to G at 118338930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017590] [ENSMUST00000106286] [ENSMUST00000124861] [ENSMUST00000133558]

AlphaFold

Q9QXP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000017590
AA Change: H200R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: H200R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	85	96	N/A	INTRINSIC
C1Q	140	278	8.4e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106286
AA Change: H200R

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: H200R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	85	96	N/A	INTRINSIC
C1Q	140	278	8.6e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000124861

Predicted Effect

probably benign
Transcript: ENSMUST00000133558

SMART Domains

Protein: ENSMUSP00000117467
Gene: ENSMUSG00000017446

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142751

Meta Mutation Damage Score

0.5836

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose and lipid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec2	T	C	17: 48,730,409 (GRCm39)	T86A	probably benign	Het
Cacng3	A	G	7: 122,353,750 (GRCm39)	K78R	possibly damaging	Het
Cep68	A	G	11: 20,190,187 (GRCm39)	L275P	probably damaging	Het
Chrm4	A	G	2: 91,758,302 (GRCm39)	K237E	probably benign	Het
Clvs1	A	G	4: 9,281,972 (GRCm39)	K139E	probably damaging	Het
Col25a1	A	T	3: 130,340,040 (GRCm39)	E351V	probably damaging	Het
Cyp4f18	A	T	8: 72,756,255 (GRCm39)	I107N	probably damaging	Het
Dagla	A	G	19: 10,225,467 (GRCm39)	L899P	probably damaging	Het
Dnah3	T	C	7: 119,550,722 (GRCm39)	K3199R	possibly damaging	Het
Ecpas	G	A	4: 58,809,691 (GRCm39)	T1592M	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Fam186a	G	T	15: 99,843,049 (GRCm39)	T1065K	possibly damaging	Het
Ferd3l	T	G	12: 33,978,952 (GRCm39)	M155R	probably damaging	Het
Fgd4	A	G	16: 16,243,729 (GRCm39)	Y602H	probably damaging	Het
Gldn	T	C	9: 54,243,098 (GRCm39)	L360P	possibly damaging	Het
Gm9920	C	A	15: 54,975,867 (GRCm39)		probably benign	Het
Inhbc	T	C	10: 127,193,621 (GRCm39)	T132A	probably benign	Het
Krt23	T	C	11: 99,374,797 (GRCm39)	D260G	probably damaging	Het
Lrch3	G	A	16: 32,770,766 (GRCm39)	A123T	probably damaging	Het
Mark2	A	T	19: 7,260,813 (GRCm39)	S408T	probably benign	Het
Nme8	A	T	13: 19,859,834 (GRCm39)	V23E	probably benign	Het
Nod2	A	T	8: 89,402,091 (GRCm39)	I912F	probably damaging	Het
Nxpe4	A	G	9: 48,305,446 (GRCm39)	I279V	probably benign	Het
Oas3	A	G	5: 120,896,982 (GRCm39)	F880L	probably damaging	Het
Or5ak23	C	T	2: 85,244,396 (GRCm39)	V276M	possibly damaging	Het
Or6c6c	A	G	10: 129,541,320 (GRCm39)	H191R	probably benign	Het
Or8c11	T	A	9: 38,289,337 (GRCm39)	N53K	possibly damaging	Het
Pcnt	C	T	10: 76,211,064 (GRCm39)	R2371H	probably damaging	Het
Prex2	A	T	1: 11,278,838 (GRCm39)	N1389I	possibly damaging	Het
Prf1	A	T	10: 61,136,098 (GRCm39)	N125Y	probably damaging	Het
Prr12	C	T	7: 44,697,036 (GRCm39)	G960R	unknown	Het
Rap1b	A	G	10: 117,660,507 (GRCm39)	S17P	probably damaging	Het
Rhot2	G	T	17: 26,062,950 (GRCm39)	Q63K	probably damaging	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Slco1a6	A	G	6: 142,042,046 (GRCm39)	L510P	probably damaging	Het
Ssc4d	G	A	5: 135,993,517 (GRCm39)	P113L	possibly damaging	Het
Sv2a	A	T	3: 96,101,072 (GRCm39)	N690I	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,220 (GRCm39)	Y452C	probably benign	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Tmem82	C	A	4: 141,343,775 (GRCm39)	G165V	probably benign	Het
Tpo	T	A	12: 30,169,448 (GRCm39)	T96S	possibly damaging	Het
Triobp	A	G	15: 78,857,618 (GRCm39)	E1073G	possibly damaging	Het
Tspoap1	C	T	11: 87,668,801 (GRCm39)	P1358L	probably benign	Het
Usp47	A	G	7: 111,692,658 (GRCm39)	Y1020C	probably damaging	Het
Washc4	C	A	10: 83,390,627 (GRCm39)	Y153*	probably null	Het

Other mutations in C1qtnf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01805:C1qtnf1	APN	11	118,338,993 (GRCm39)	missense	probably damaging	1.00
IGL02376:C1qtnf1	APN	11	118,338,894 (GRCm39)	missense	probably benign	0.29
IGL02609:C1qtnf1	APN	11	118,338,830 (GRCm39)	missense	probably damaging	1.00
R0594:C1qtnf1	UTSW	11	118,337,454 (GRCm39)	missense	possibly damaging	0.96
R1170:C1qtnf1	UTSW	11	118,339,095 (GRCm39)	missense	probably damaging	1.00
R1442:C1qtnf1	UTSW	11	118,339,011 (GRCm39)	missense	probably damaging	1.00
R1526:C1qtnf1	UTSW	11	118,334,616 (GRCm39)	missense	possibly damaging	0.92
R1540:C1qtnf1	UTSW	11	118,338,749 (GRCm39)	missense	probably benign	0.28
R1896:C1qtnf1	UTSW	11	118,334,583 (GRCm39)	missense	probably damaging	1.00
R2011:C1qtnf1	UTSW	11	118,339,110 (GRCm39)	missense	probably benign	0.04
R2012:C1qtnf1	UTSW	11	118,339,110 (GRCm39)	missense	probably benign	0.04
R2901:C1qtnf1	UTSW	11	118,338,930 (GRCm39)	splice site	probably null
R4011:C1qtnf1	UTSW	11	118,337,365 (GRCm39)	missense	probably benign
R4897:C1qtnf1	UTSW	11	118,338,938 (GRCm39)	missense	probably damaging	1.00
R6335:C1qtnf1	UTSW	11	118,338,960 (GRCm39)	missense	probably damaging	1.00
R7250:C1qtnf1	UTSW	11	118,339,176 (GRCm39)	makesense	probably null
R8322:C1qtnf1	UTSW	11	118,338,683 (GRCm39)	missense	probably benign	0.00
R8558:C1qtnf1	UTSW	11	118,339,149 (GRCm39)	missense	probably damaging	0.99
R8679:C1qtnf1	UTSW	11	118,337,340 (GRCm39)	nonsense	probably null
R8920:C1qtnf1	UTSW	11	118,339,068 (GRCm39)	missense	possibly damaging	0.95
R9289:C1qtnf1	UTSW	11	118,334,672 (GRCm39)	missense	probably benign	0.00
X0021:C1qtnf1	UTSW	11	118,334,606 (GRCm39)	nonsense	probably null
Z1177:C1qtnf1	UTSW	11	118,334,580 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAAGGGATCCATTGGAGC -3'
(R):5'- TCGTCACTGAAAATGGCGTTC -3'

Sequencing Primer
(F):5'- ATTGGAGCCCCTGGGAAC -3'
(R):5'- CTCACGCTCGCCCTTGAAG -3'

Posted On

2015-01-23