Mutagenetix > Incidental Mutation

Incidental Mutation 'R6042:Grifin'

483606

Institutional Source

Beutler Lab

Gene Symbol

Grifin

Ensembl Gene

ENSMUSG00000036586

Gene Name

galectin-related inter-fiber protein

Synonyms

E130101O17Rik

MMRRC Submission

044210-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6042 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140548874-140550826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140549311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 135 (R135L)

Ref Sequence

ENSEMBL: ENSMUSP00000039263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042993]

AlphaFold

Q9D1U0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042993
AA Change: R135L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039263
Gene: ENSMUSG00000036586
AA Change: R135L

Domain	Start	End	E-Value	Type
GLECT	3	133	2.19e-42	SMART
Gal-bind_lectin	9	132	5.06e-39	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,224,023 (GRCm39)	K478M	probably benign	Het
Ankar	G	T	1: 72,713,213 (GRCm39)	S474*	probably null	Het
Barx2	C	A	9: 31,758,199 (GRCm39)	E246D	probably benign	Het
Cdh20	A	T	1: 110,065,997 (GRCm39)	Q757L	probably damaging	Het
Cnr1	T	C	4: 33,944,751 (GRCm39)	F380L	probably damaging	Het
Cntnap5b	G	A	1: 100,318,317 (GRCm39)	A655T	probably benign	Het
Col2a1	T	A	15: 97,898,451 (GRCm39)		probably benign	Het
Crybg3	C	T	16: 59,370,838 (GRCm39)	R2340Q	possibly damaging	Het
Ctsb	G	T	14: 63,379,305 (GRCm39)	D306Y	probably damaging	Het
Cyp2a22	A	C	7: 26,633,664 (GRCm39)	Y349D	probably damaging	Het
Dcpp2	T	C	17: 24,117,886 (GRCm39)	L22S	probably damaging	Het
Dnah8	G	T	17: 30,966,239 (GRCm39)	M2476I	probably damaging	Het
Dst	A	G	1: 34,228,053 (GRCm39)	E1882G	probably damaging	Het
Esrp1	T	C	4: 11,357,580 (GRCm39)	K511E	possibly damaging	Het
Fat3	T	A	9: 16,289,113 (GRCm39)	T137S	probably benign	Het
Fbxw24	T	A	9: 109,436,079 (GRCm39)	M318L	probably benign	Het
Fpr-rs7	T	A	17: 20,333,477 (GRCm39)	T338S	probably benign	Het
Gcgr	T	C	11: 120,425,584 (GRCm39)	M1T	probably null	Het
Helz	T	C	11: 107,504,946 (GRCm39)		probably null	Het
Hivep3	C	G	4: 119,955,061 (GRCm39)	Q1126E	possibly damaging	Het
Htr3a	T	A	9: 48,815,999 (GRCm39)	H146L	probably damaging	Het
Lama3	T	A	18: 12,707,311 (GRCm39)	V3081E	probably damaging	Het
Mgat5	T	A	1: 127,387,636 (GRCm39)	C531S	probably damaging	Het
Mical2	A	G	7: 111,979,619 (GRCm39)	D106G	probably benign	Het
Nectin2	C	T	7: 19,472,063 (GRCm39)	A109T	probably benign	Het
Olig3	T	C	10: 19,232,503 (GRCm39)	S43P	probably damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Or8b39	T	A	9: 37,996,390 (GRCm39)	V86E	probably damaging	Het
Pcdh12	T	C	18: 38,414,558 (GRCm39)	R856G	probably damaging	Het
Phpt1	T	A	2: 25,464,851 (GRCm39)	M1L	probably benign	Het
Polr2m	T	C	9: 71,391,080 (GRCm39)	I41V	probably damaging	Het
Pramel28	G	T	4: 143,692,631 (GRCm39)	D123E	probably benign	Het
Pzp	A	G	6: 128,500,977 (GRCm39)	V127A	possibly damaging	Het
Rgs7	G	T	1: 174,977,226 (GRCm39)	T126K	probably damaging	Het
RP23-399J5.1	T	C	8: 71,542,571 (GRCm39)		noncoding transcript	Het
Rras	A	T	7: 44,669,820 (GRCm39)	D112V	probably damaging	Het
Sdcbp2	T	A	2: 151,424,646 (GRCm39)	Y5*	probably null	Het
Slc43a2	T	C	11: 75,461,433 (GRCm39)	F462L	probably damaging	Het
Smchd1	T	A	17: 71,684,052 (GRCm39)	K1436*	probably null	Het
Snrnp27	A	C	6: 86,659,902 (GRCm39)	S31A	unknown	Het
Sqstm1	A	C	11: 50,098,251 (GRCm39)	F172V	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Syt10	G	A	15: 89,725,824 (GRCm39)	T50I	probably benign	Het
Syt16	T	C	12: 74,313,504 (GRCm39)	Y477H	probably damaging	Het
Tacr3	A	T	3: 134,638,153 (GRCm39)	T437S	probably benign	Het
Tg	G	A	15: 66,555,842 (GRCm39)	D845N	probably benign	Het
Uqcc1	G	T	2: 155,763,564 (GRCm39)	S36R	possibly damaging	Het
Vmn1r20	T	C	6: 57,409,391 (GRCm39)	V239A	possibly damaging	Het
Xpo7	T	A	14: 70,933,103 (GRCm39)	Q263L	possibly damaging	Het
Zfp442	T	C	2: 150,250,016 (GRCm39)	K572E	probably damaging	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	Het

Other mutations in Grifin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Grifin	APN	5	140,550,494 (GRCm39)	missense	probably damaging	1.00
IGL02419:Grifin	APN	5	140,550,455 (GRCm39)	missense	probably benign	0.04
R4655:Grifin	UTSW	5	140,550,300 (GRCm39)	missense	possibly damaging	0.65
R5881:Grifin	UTSW	5	140,549,342 (GRCm39)	missense	possibly damaging	0.62
R6501:Grifin	UTSW	5	140,549,036 (GRCm39)	makesense	probably null
R7861:Grifin	UTSW	5	140,550,280 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTCTGCTTGCTCTAACCAG -3'
(R):5'- CCAAGAAGGCTTCTGTGGTTG -3'

Sequencing Primer
(F):5'- TGCTTGCTCTAACCAGATGTG -3'
(R):5'- TTGGGGCCCAGAGACAC -3'

Posted On

2017-07-14