Mutagenetix > Incidental Mutation

Incidental Mutation 'R4912:Gm42669'

379616

Institutional Source

Beutler Lab

Gene Symbol

Gm42669

Ensembl Gene

ENSMUSG00000106631

Gene Name

predicted gene 42669

Synonyms

MMRRC Submission

042514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R4912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107655487-107728462 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107656683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 982 (K982R)

Ref Sequence

ENSEMBL: ENSMUSP00000108290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000160160] [ENSMUST00000211896]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060553
AA Change: K337R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100951
AA Change: K982R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: K982R

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC
Pfam:DUF4596	1195	1239	2.6e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112671
AA Change: K982R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: K982R

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133800

Predicted Effect

unknown
Transcript: ENSMUST00000143074
AA Change: K399R

SMART Domains

Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631
AA Change: K399R

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152474

SMART Domains

Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375

Domain	Start	End	E-Value	Type
low complexity region	339	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160160

SMART Domains

Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	140	1.5e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211896
AA Change: K1494R

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,213,505 (GRCm39)	D52G	possibly damaging	Het
Acaa1a	C	A	9: 119,171,827 (GRCm39)	R102S	probably damaging	Het
Arhgef12	G	A	9: 42,904,361 (GRCm39)	R706*	probably null	Het
Best3	A	G	10: 116,844,886 (GRCm39)	Y347C	probably damaging	Het
Birc6	T	A	17: 74,872,900 (GRCm39)	D386E	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,144 (GRCm39)	T66S	probably benign	Het
Chd9	A	T	8: 91,760,858 (GRCm39)	D2201V	possibly damaging	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Dffb	T	A	4: 154,049,864 (GRCm39)		probably benign	Het
Diaph3	A	C	14: 87,244,635 (GRCm39)	C217W	probably damaging	Het
Eml2	T	A	7: 18,927,924 (GRCm39)		probably null	Het
Ercc5	T	C	1: 44,196,217 (GRCm39)	I70T	probably damaging	Het
Fryl	AGTGTGT	AGTGT	5: 73,226,125 (GRCm39)		probably null	Het
Fsd1	C	T	17: 56,298,241 (GRCm39)	P189S	possibly damaging	Het
Gm5414	A	G	15: 101,533,445 (GRCm39)	I373T	possibly damaging	Het
Gm7356	A	G	17: 14,221,498 (GRCm39)	L177P	possibly damaging	Het
Grip1	G	A	10: 119,767,153 (GRCm39)	D93N	probably damaging	Het
Hbq1b	T	A	11: 32,237,014 (GRCm39)	M1K	probably null	Het
Hps3	C	A	3: 20,068,337 (GRCm39)	L572F	probably damaging	Het
Ighj2	T	A	12: 113,393,100 (GRCm39)		probably benign	Het
Kcna3	T	C	3: 106,945,207 (GRCm39)	M490T	probably benign	Het
Krt76	T	A	15: 101,796,597 (GRCm39)	K404*	probably null	Het
Lgr4	A	T	2: 109,836,847 (GRCm39)		probably null	Het
Ltbp4	G	T	7: 27,005,541 (GRCm39)	C1533*	probably null	Het
Mapre2	A	G	18: 23,965,990 (GRCm39)	N25S	probably damaging	Het
Mark3	T	A	12: 111,559,087 (GRCm39)	I43K	probably benign	Het
Mon1b	T	A	8: 114,368,585 (GRCm39)	Y495*	probably null	Het
Mrfap1	A	G	5: 36,954,089 (GRCm39)		probably benign	Het
Mxra8	A	G	4: 155,925,361 (GRCm39)		probably null	Het
Myoz1	A	T	14: 20,699,606 (GRCm39)	L244Q	probably damaging	Het
Ndfip2	C	T	14: 105,496,120 (GRCm39)	R5W	probably benign	Het
Nek11	T	C	9: 105,164,857 (GRCm39)	D423G	probably benign	Het
Nin	A	T	12: 70,090,837 (GRCm39)	D859E	probably damaging	Het
Nup210	G	A	6: 90,994,511 (GRCm39)	A1729V	probably benign	Het
Olfm3	A	G	3: 114,895,589 (GRCm39)	E157G	probably damaging	Het
Or1e1f	A	T	11: 73,856,166 (GRCm39)	H244L	probably damaging	Het
Prickle1	A	G	15: 93,398,429 (GRCm39)	S800P	probably benign	Het
Reln	A	G	5: 22,130,191 (GRCm39)	S2707P	probably benign	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rexo4	G	A	2: 26,852,404 (GRCm39)	T200M	possibly damaging	Het
Saxo2	T	A	7: 82,283,743 (GRCm39)	I372L	probably benign	Het
Scgb2b2	T	A	7: 31,003,056 (GRCm39)	D50E	probably benign	Het
Sipa1l1	T	C	12: 82,443,452 (GRCm39)	L914P	possibly damaging	Het
Slf1	T	A	13: 77,199,413 (GRCm39)	D656V	probably damaging	Het
Sorbs1	T	C	19: 40,300,171 (GRCm39)	D1192G	probably damaging	Het
Tdrd6	A	C	17: 43,935,218 (GRCm39)	D1943E	probably benign	Het
Tmem163	G	A	1: 127,419,362 (GRCm39)	T281M	probably damaging	Het
Tmod3	A	G	9: 75,439,730 (GRCm39)	V35A	probably damaging	Het
Ttc39c	A	T	18: 12,867,951 (GRCm39)	Q448L	probably benign	Het
Ulk1	A	T	5: 110,935,455 (GRCm39)	S937T	probably damaging	Het
Unc13c	T	A	9: 73,481,304 (GRCm39)	D1711V	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Utp20	G	T	10: 88,607,822 (GRCm39)	Q1596K	probably benign	Het
Vmn1r28	A	T	6: 58,242,525 (GRCm39)	I123F	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,596 (GRCm39)	V138E	probably damaging	Het
Vmn2r112	A	G	17: 22,822,363 (GRCm39)	D347G	probably damaging	Het
Vmn2r3	T	G	3: 64,166,618 (GRCm39)	T838P	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wdr17	T	C	8: 55,082,896 (GRCm39)	D1268G	probably damaging	Het
Zfp108	T	A	7: 23,960,739 (GRCm39)	H443Q	probably damaging	Het
Zfp608	A	G	18: 55,079,663 (GRCm39)	V374A	probably damaging	Het
Zfp831	G	T	2: 174,486,417 (GRCm39)	G364V	probably damaging	Het
Zfp94	A	G	7: 24,003,166 (GRCm39)	V86A	probably benign	Het
Zkscan16	A	C	4: 58,946,506 (GRCm39)	N127T	possibly damaging	Het

Other mutations in Gm42669

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0384:Gm42669	UTSW	5	107,656,664 (GRCm39)	missense	probably benign	0.00
R1554:Gm42669	UTSW	5	107,655,653 (GRCm39)	missense	possibly damaging	0.86
R1797:Gm42669	UTSW	5	107,655,683 (GRCm39)	nonsense	probably null
R1956:Gm42669	UTSW	5	107,656,738 (GRCm39)	missense	possibly damaging	0.46
R1957:Gm42669	UTSW	5	107,656,738 (GRCm39)	missense	possibly damaging	0.46
R2091:Gm42669	UTSW	5	107,655,776 (GRCm39)	missense	probably benign	0.13
R4634:Gm42669	UTSW	5	107,656,079 (GRCm39)	missense	possibly damaging	0.85
R5315:Gm42669	UTSW	5	107,656,103 (GRCm39)	missense	probably damaging	0.99
R7014:Gm42669	UTSW	5	107,656,142 (GRCm39)	missense	probably benign	0.19
R7886:Gm42669	UTSW	5	107,656,572 (GRCm39)	missense
R9244:Gm42669	UTSW	5	107,656,370 (GRCm39)	missense	possibly damaging	0.78
R9521:Gm42669	UTSW	5	107,655,892 (GRCm39)	missense
Z1177:Gm42669	UTSW	5	107,726,456 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTGATGAAGGTGAAGGCCAC -3'
(R):5'- GTTCTCTCTGATGGAGCTCC -3'

Sequencing Primer
(F):5'- GTTTCTTATGAGCATCATGGAAGGAC -3'
(R):5'- CCAAATGACACGGTCGTTCTTGAG -3'

Posted On

2016-04-15