Mutagenetix > Incidental Mutation

Incidental Mutation 'R8789:Gm10912'

670798

Institutional Source

Beutler Lab

Gene Symbol

Gm10912

Ensembl Gene

ENSMUSG00000078091

Gene Name

predicted gene 10912

Synonyms

MMRRC Submission

068608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103896142-103897831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103897046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 62 (K62Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028603] [ENSMUST00000090429] [ENSMUST00000099666] [ENSMUST00000104891] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000111136] [ENSMUST00000129749]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028603

SMART Domains

Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	294	384	3.1e-30	PFAM
coiled coil region	417	446	N/A	INTRINSIC
low complexity region	462	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090429

SMART Domains

Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099666

SMART Domains

Protein: ENSMUSP00000097259
Gene: ENSMUSG00000075006

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104891
AA Change: K62Q

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100487
Gene: ENSMUSG00000078091
AA Change: K62Q

Domain	Start	End	E-Value	Type
low complexity region	87	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111130

SMART Domains

Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111131

SMART Domains

Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	84	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111132

SMART Domains

Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UPAR_LY6	26	55	1.2e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111136

SMART Domains

Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180

Domain	Start	End	E-Value	Type
FBOX	16	56	2.83e-4	SMART
SMI1_KNR4	121	251	3.02e-5	SMART
Pfam:DUF525	293	361	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129749

SMART Domains

Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LU	24	104	1.88e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	C	T	2: 158,478,604 (GRCm39)	Q485*	probably null	Het
Arsa	C	T	15: 89,358,260 (GRCm39)	V350I	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cav2	T	C	6: 17,281,996 (GRCm39)	Y85H	probably damaging	Het
Ccdc93	A	G	1: 121,424,784 (GRCm39)	Q570R	probably damaging	Het
Cd72	A	G	4: 43,452,628 (GRCm39)	S122P	probably damaging	Het
Cep72	A	G	13: 74,186,367 (GRCm39)	M619T	possibly damaging	Het
Cers5	C	A	15: 99,637,551 (GRCm39)	V233F	possibly damaging	Het
Cntn5	A	G	9: 9,673,292 (GRCm39)	Y803H	probably damaging	Het
Crybg2	T	C	4: 133,801,554 (GRCm39)	S596P	probably benign	Het
Crybg3	T	C	16: 59,375,359 (GRCm39)	E251G	probably benign	Het
Csmd1	T	A	8: 17,266,722 (GRCm39)	N68I	probably damaging	Het
Ctr9	A	G	7: 110,642,933 (GRCm39)	N466S	possibly damaging	Het
Cyp2a4	T	A	7: 26,007,106 (GRCm39)	I71N	probably damaging	Het
Cyp2j11	C	T	4: 96,227,405 (GRCm39)	E204K	probably damaging	Het
Cyp4f39	T	C	17: 32,710,848 (GRCm39)	F469S	probably damaging	Het
Dmac2	T	A	7: 25,320,495 (GRCm39)	S65T	probably benign	Het
Duxf1	T	C	10: 58,059,426 (GRCm39)	N443D	unknown	Het
Elp3	G	A	14: 65,802,870 (GRCm39)	P243S	probably damaging	Het
Foxg1	T	A	12: 49,432,143 (GRCm39)	M292K	probably benign	Het
Fsip2	T	C	2: 82,815,822 (GRCm39)	S3852P	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Hapstr1	T	C	16: 8,660,865 (GRCm39)	I114T	probably benign	Het
Hoxc12	T	C	15: 102,846,732 (GRCm39)	I208T	probably benign	Het
Htra3	G	A	5: 35,836,602 (GRCm39)	P30L	unknown	Het
Itgal	A	G	7: 126,904,421 (GRCm39)	H298R	probably benign	Het
Klrb1c	A	G	6: 128,761,148 (GRCm39)	S160P	probably benign	Het
Or13c7d	A	T	4: 43,770,793 (GRCm39)	C73S	probably damaging	Het
Or2z9	T	C	8: 72,854,135 (GRCm39)	F177S	probably damaging	Het
Phrf1	T	A	7: 140,836,581 (GRCm39)	D284E	unknown	Het
Pmp2	T	A	3: 10,247,564 (GRCm39)	I42F	probably damaging	Het
Psg26	T	C	7: 18,216,494 (GRCm39)	D115G	probably damaging	Het
Pym1	T	C	10: 128,601,073 (GRCm39)	V32A	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Recql4	T	C	15: 76,588,546 (GRCm39)	H1105R	probably benign	Het
Rimkla	T	C	4: 119,349,607 (GRCm39)	Y17C	probably damaging	Het
Rnf207	C	T	4: 152,391,924 (GRCm39)	R623K	probably benign	Het
Ros1	A	T	10: 51,999,328 (GRCm39)	N1207K	probably damaging	Het
Scg2	G	T	1: 79,413,500 (GRCm39)	Q368K	probably benign	Het
Serpinb6e	G	A	13: 34,017,213 (GRCm39)	T269I	probably damaging	Het
Tsc22d2	A	T	3: 58,367,438 (GRCm39)	K663*	probably null	Het
Ubr4	T	A	4: 139,137,494 (GRCm39)	N1026K	possibly damaging	Het
Ubtfl1	A	G	9: 18,321,609 (GRCm39)	D379G	unknown	Het
Vps13d	T	C	4: 144,795,743 (GRCm39)	M3700V		Het
Zscan4-ps3	T	C	7: 11,346,288 (GRCm39)	L136P	probably damaging	Het

Other mutations in Gm10912

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02588:Gm10912	APN	2	103,897,197 (GRCm39)	unclassified	probably benign
R0197:Gm10912	UTSW	2	103,896,875 (GRCm39)	missense	probably benign	0.09
R0511:Gm10912	UTSW	2	103,897,290 (GRCm39)	unclassified	probably benign
R0701:Gm10912	UTSW	2	103,896,875 (GRCm39)	missense	probably benign	0.09
R0883:Gm10912	UTSW	2	103,896,875 (GRCm39)	missense	probably benign	0.09
R5945:Gm10912	UTSW	2	103,896,961 (GRCm39)	missense	possibly damaging	0.83
R6550:Gm10912	UTSW	2	103,896,996 (GRCm39)	missense	possibly damaging	0.92
R7022:Gm10912	UTSW	2	103,897,055 (GRCm39)	missense	probably damaging	0.97
R9146:Gm10912	UTSW	2	103,897,053 (GRCm39)	missense	possibly damaging	0.46
X0027:Gm10912	UTSW	2	103,896,947 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- CCCCTCAGTAGAATGGGTAATG -3'
(R):5'- CATAGTAGAGTCGGCCTTCTGG -3'

Sequencing Primer
(F):5'- GGGTAATGATAACAAGTTCTTGCCC -3'
(R):5'- TGGGGGCCCAGGTATAAG -3'

Posted On

2021-04-30