Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:C1qtnf1'

161550

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf1

Ensembl Gene

ENSMUSG00000017446

Gene Name

C1q and tumor necrosis factor related protein 1

Synonyms

1600017K21Rik, CTRP1

MMRRC Submission

039497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118319029-118340789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118339011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 227 (D227G)

Ref Sequence

ENSEMBL: ENSMUSP00000101893 (fasta)

Gene Model

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

AlphaFold

Q9QXP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000017590
AA Change: D227G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: D227G

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

probably damaging
Transcript: ENSMUST00000106286
AA Change: D227G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: D227G

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 benign
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

0.2119

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Lzts1	G	T	8: 69,591,638 (GRCm39)	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	probably damaging	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
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
R2902: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'- GCTTTGCACAGCAACGACTACTTCC -3'
(R):5'- AGCTCTCTGCTTAGAGTAGCAGCC -3'

Sequencing Primer
(F):5'- GACTACTTCCAGCCCGTG -3'
(R):5'- TCCACAGGAGTGTCCACTAGG -3'

Posted On

2014-03-14