Mutagenetix > Incidental Mutation

Incidental Mutation 'R8194:Cnst'

635326

Institutional Source

Beutler Lab

Gene Symbol

Cnst

Ensembl Gene

ENSMUSG00000038949

Gene Name

consortin, connexin sorting protein

Synonyms

9630058J23Rik

MMRRC Submission

067617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179374009-179455043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 179437759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 441 (H441R)

Ref Sequence

ENSEMBL: ENSMUSP00000048205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040706]

AlphaFold

Q8CBC4

Predicted Effect

probably benign
Transcript: ENSMUST00000040706
AA Change: H441R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: H441R

Domain	Start	End	E-Value	Type
low complexity region	109	126	N/A	INTRINSIC
low complexity region	142	150	N/A	INTRINSIC
low complexity region	555	566	N/A	INTRINSIC
Pfam:Consortin_C	598	709	3.4e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	T	A	12: 71,106,889 (GRCm39)	Y320*	probably null	Het
Ash1l	T	A	3: 88,960,062 (GRCm39)	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,713,694 (GRCm39)	C55*	probably null	Het
Cacna1s	A	T	1: 136,005,430 (GRCm39)	N405I	probably benign	Het
Capn11	A	T	17: 45,944,325 (GRCm39)	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,036,244 (GRCm39)	R71G	probably benign	Het
Ccser2	G	A	14: 36,618,220 (GRCm39)	R772W	probably damaging	Het
Cenpf	T	A	1: 189,414,600 (GRCm39)	E172D	probably benign	Het
Cep85	T	C	4: 133,861,400 (GRCm39)	M627V	probably null	Het
Chd1	G	A	17: 17,594,737 (GRCm39)		probably benign	Het
Cyp2d11	G	T	15: 82,274,638 (GRCm39)	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,514,159 (GRCm39)	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,414 (GRCm39)	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,217,364 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,954,716 (GRCm39)	S1090G	probably damaging	Het
Malrd1	A	G	2: 15,929,931 (GRCm39)	D1479G	unknown	Het
Man2a2	T	C	7: 80,010,766 (GRCm39)	K742E	probably benign	Het
Mapk8	A	T	14: 33,104,241 (GRCm39)	S392T	probably benign	Het
Mark3	T	C	12: 111,559,117 (GRCm39)	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,986,867 (GRCm39)	I219V	probably benign	Het
Mlycd	A	T	8: 120,134,332 (GRCm39)	E278V	probably benign	Het
Muc2	G	T	7: 141,290,801 (GRCm39)	C29F		Het
Mup20	T	C	4: 61,971,721 (GRCm39)	I77V	probably benign	Het
Myh3	A	G	11: 66,982,828 (GRCm39)	E849G	probably damaging	Het
Nedd4	A	G	9: 72,593,389 (GRCm39)	N154S	probably damaging	Het
Odad4	G	A	11: 100,454,502 (GRCm39)	G429E	probably benign	Het
Or1e1f	A	T	11: 73,856,240 (GRCm39)	I269F	probably benign	Het
Pcdh7	A	T	5: 57,877,678 (GRCm39)	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,285,886 (GRCm39)	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,569,710 (GRCm39)	V19M	probably damaging	Het
Prss35	T	G	9: 86,637,666 (GRCm39)	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,291,747 (GRCm39)	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,575,651 (GRCm39)	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,455,761 (GRCm39)	Y139H	probably damaging	Het
Slc5a2	T	C	7: 127,870,328 (GRCm39)	V522A	probably benign	Het
Slc6a6	A	T	6: 91,717,952 (GRCm39)	Q297L	probably damaging	Het
Sos2	A	C	12: 69,645,598 (GRCm39)	Y914D	probably damaging	Het
Spata1	G	T	3: 146,195,614 (GRCm39)	T32N	possibly damaging	Het
Srcap	C	T	7: 127,138,369 (GRCm39)	R1180C	probably damaging	Het
St14	A	T	9: 31,042,921 (GRCm39)	M1K	probably null	Het
Tcaf1	T	C	6: 42,652,236 (GRCm39)	T749A	probably benign	Het
Tcp1	T	C	17: 13,141,621 (GRCm39)		probably null	Het
Tle6	A	G	10: 81,426,888 (GRCm39)	V576A	probably damaging	Het
Usp17lc	T	A	7: 103,067,407 (GRCm39)	M234K	probably benign	Het
Washc4	A	G	10: 83,416,163 (GRCm39)	I818V	possibly damaging	Het
Zdhhc18	A	G	4: 133,341,165 (GRCm39)	L236P	probably damaging	Het
Zfp266	T	C	9: 20,411,610 (GRCm39)	D189G	probably benign	Het
Zfp474	A	T	18: 52,772,229 (GRCm39)	D294V	probably damaging	Het
Zfp568	T	C	7: 29,722,758 (GRCm39)	F568L	probably damaging	Het
Zfp93	A	G	7: 23,975,479 (GRCm39)	K488R	probably benign	Het

Other mutations in Cnst

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Cnst	APN	1	179,452,557 (GRCm39)	splice site	probably benign
Doldrums	UTSW	1	179,432,638 (GRCm39)	splice site	probably null
ennui	UTSW	1	179,434,100 (GRCm39)	critical splice donor site	probably null
R0360:Cnst	UTSW	1	179,407,100 (GRCm39)	missense	probably benign	0.00
R1391:Cnst	UTSW	1	179,407,051 (GRCm39)	missense	possibly damaging	0.81
R1743:Cnst	UTSW	1	179,437,957 (GRCm39)	missense	probably benign	0.18
R1909:Cnst	UTSW	1	179,450,356 (GRCm39)	missense	probably damaging	1.00
R3856:Cnst	UTSW	1	179,407,279 (GRCm39)	missense	probably benign	0.02
R4565:Cnst	UTSW	1	179,432,114 (GRCm39)	missense	probably damaging	1.00
R5041:Cnst	UTSW	1	179,432,593 (GRCm39)	missense	probably damaging	0.99
R5072:Cnst	UTSW	1	179,450,451 (GRCm39)	missense	possibly damaging	0.61
R5087:Cnst	UTSW	1	179,450,378 (GRCm39)	missense	possibly damaging	0.82
R5294:Cnst	UTSW	1	179,438,005 (GRCm39)	missense	probably benign	0.03
R5349:Cnst	UTSW	1	179,450,462 (GRCm39)	missense	possibly damaging	0.58
R5394:Cnst	UTSW	1	179,429,301 (GRCm39)	splice site	probably benign
R6020:Cnst	UTSW	1	179,437,440 (GRCm39)	missense	probably benign
R6198:Cnst	UTSW	1	179,420,430 (GRCm39)	missense	probably damaging	1.00
R6669:Cnst	UTSW	1	179,432,638 (GRCm39)	splice site	probably null
R6767:Cnst	UTSW	1	179,437,519 (GRCm39)	missense	possibly damaging	0.92
R7007:Cnst	UTSW	1	179,438,133 (GRCm39)	missense	probably damaging	1.00
R7179:Cnst	UTSW	1	179,406,947 (GRCm39)	start gained	probably benign
R7356:Cnst	UTSW	1	179,434,095 (GRCm39)	missense	probably benign	0.01
R7730:Cnst	UTSW	1	179,452,650 (GRCm39)	missense	probably damaging	1.00
R7900:Cnst	UTSW	1	179,450,453 (GRCm39)	missense	probably damaging	1.00
R8073:Cnst	UTSW	1	179,434,002 (GRCm39)	missense	probably benign	0.00
R8738:Cnst	UTSW	1	179,420,274 (GRCm39)	missense	probably benign	0.00
R8857:Cnst	UTSW	1	179,437,878 (GRCm39)	missense	probably damaging	1.00
R9035:Cnst	UTSW	1	179,437,587 (GRCm39)	missense	possibly damaging	0.94
R9062:Cnst	UTSW	1	179,434,100 (GRCm39)	critical splice donor site	probably null
R9106:Cnst	UTSW	1	179,432,162 (GRCm39)	missense	probably damaging	1.00
R9190:Cnst	UTSW	1	179,407,039 (GRCm39)	small deletion	probably benign
R9287:Cnst	UTSW	1	179,407,108 (GRCm39)	missense	possibly damaging	0.61
R9429:Cnst	UTSW	1	179,432,566 (GRCm39)	missense	probably damaging	1.00
Z1088:Cnst	UTSW	1	179,407,130 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGAATGCCTGCAAAGACAG -3'
(R):5'- TTCTGGGGCCATACACACTTC -3'

Sequencing Primer
(F):5'- TGCAAAGACAGCAGCTGC -3'
(R):5'- ACAGTGTGCTTACGTCACAG -3'

Posted On

2020-07-13