Mutagenetix > Incidental Mutation

Incidental Mutation 'R0332:Gm10644'

35926

Institutional Source

Beutler Lab

Gene Symbol

Gm10644

Ensembl Gene

ENSMUSG00000074219

Gene Name

predicted gene 10644

Synonyms

MMRRC Submission

038541-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0332 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

84658956-84681962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84660210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 45 (L45S)

Ref Sequence

ENSEMBL: ENSMUSP00000096195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000098595] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000141158] [ENSMUST00000152978]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045393
AA Change: K773E

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: K773E

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	6.6e-23	PFAM
OLF	142	398	8.5e-138	SMART
low complexity region	405	441	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
HormR	476	541	1.4e-23	SMART
low complexity region	579	591	N/A	INTRINSIC
low complexity region	747	758	N/A	INTRINSIC
GPS	797	849	3.5e-27	SMART
Pfam:7tm_2	856	1092	5.3e-66	PFAM
Pfam:Latrophilin	1112	1470	1.7e-177	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098595
AA Change: L45S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096195
Gene: ENSMUSG00000074219
AA Change: L45S

Domain	Start	End	E-Value	Type
low complexity region	60	72	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124355

SMART Domains

Protein: ENSMUSP00000116064
Gene: ENSMUSG00000013033

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131018

SMART Domains

Protein: ENSMUSP00000117720
Gene: ENSMUSG00000013033

Domain	Start	End	E-Value	Type
Pfam:Latrophilin	1	213	9.2e-76	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131717
AA Change: K597E

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: K597E

Domain	Start	End	E-Value	Type
OLF	1	222	4.51e-103	SMART
low complexity region	229	265	N/A	INTRINSIC
low complexity region	279	294	N/A	INTRINSIC
HormR	300	365	2.26e-21	SMART
low complexity region	403	415	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
GPS	621	673	5.64e-25	SMART
Pfam:7tm_2	680	916	7.9e-68	PFAM
Pfam:Latrophilin	936	1295	2.7e-181	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132500
AA Change: K768E

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: K768E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	1.6e-25	PFAM
OLF	137	393	1.39e-135	SMART
low complexity region	400	436	N/A	INTRINSIC
low complexity region	450	465	N/A	INTRINSIC
HormR	471	536	2.26e-21	SMART
low complexity region	574	586	N/A	INTRINSIC
low complexity region	742	753	N/A	INTRINSIC
GPS	792	844	5.64e-25	SMART
Pfam:7tm_2	851	1087	3.4e-68	PFAM
Pfam:Latrophilin	1146	1511	6.4e-193	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139575

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141158
AA Change: K768E

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: K768E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	3.4e-25	PFAM
OLF	137	393	1.39e-135	SMART
low complexity region	400	436	N/A	INTRINSIC
low complexity region	450	465	N/A	INTRINSIC
HormR	471	536	2.26e-21	SMART
low complexity region	574	586	N/A	INTRINSIC
low complexity region	742	753	N/A	INTRINSIC
GPS	792	844	5.64e-25	SMART
Pfam:7tm_2	851	1087	4.5e-68	PFAM
Pfam:Latrophilin	1107	1466	1.1e-180	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152978
AA Change: K773E

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: K773E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	2.1e-25	PFAM
OLF	142	398	1.39e-135	SMART
low complexity region	405	441	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
HormR	476	541	2.26e-21	SMART
Pfam:GAIN	544	773	4.1e-59	PFAM
GPS	797	849	5.64e-25	SMART
Pfam:7tm_2	856	1092	2.3e-69	PFAM
Pfam:Latrophilin	1112	1516	7.3e-136	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199528

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,505,954 (GRCm39)	E211G	probably damaging	Het
Aox3	A	G	1: 58,181,910 (GRCm39)	N299S	probably benign	Het
Arhgef7	T	A	8: 11,874,701 (GRCm39)	Y777*	probably null	Het
Atad1	A	G	19: 32,679,934 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,268 (GRCm39)		probably null	Het
Bop1	A	G	15: 76,340,187 (GRCm39)	Y130H	probably damaging	Het
Ccar2	G	T	14: 70,379,384 (GRCm39)		probably benign	Het
Ccdc110	G	T	8: 46,396,001 (GRCm39)	E631*	probably null	Het
Cfap54	C	T	10: 92,871,319 (GRCm39)	D634N	probably damaging	Het
Cldn8	C	T	16: 88,359,246 (GRCm39)		silent	Het
Cstf3	G	T	2: 104,476,812 (GRCm39)		probably null	Het
Dgkq	T	C	5: 108,802,965 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,366,204 (GRCm39)	L546*	probably null	Het
Eif3g	A	T	9: 20,809,280 (GRCm39)		probably benign	Het
Fam228a	T	A	12: 4,785,018 (GRCm39)	I38F	probably damaging	Het
Fto	A	T	8: 92,128,518 (GRCm39)		probably benign	Het
Gcnt4	G	T	13: 97,083,018 (GRCm39)	V105L	probably benign	Het
Gm7275	A	T	16: 47,894,132 (GRCm39)		noncoding transcript	Het
Gm7579	T	C	7: 141,766,112 (GRCm39)	S173P	unknown	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Grep1	A	T	17: 23,933,578 (GRCm39)		probably benign	Het
Hspb8	T	A	5: 116,547,532 (GRCm39)	D150V	probably damaging	Het
Ifitm1	T	C	7: 140,548,366 (GRCm39)		probably benign	Het
Ifnl2	T	C	7: 28,208,756 (GRCm39)	T99A	possibly damaging	Het
Ints4	T	C	7: 97,166,925 (GRCm39)	L577P	probably damaging	Het
Jph4	T	C	14: 55,351,467 (GRCm39)	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,471,526 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,826,856 (GRCm39)		probably null	Het
Nlrp2	C	A	7: 5,320,629 (GRCm39)	C836F	probably damaging	Het
Nup210l	G	T	3: 90,039,616 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or51h1	A	T	7: 102,308,672 (GRCm39)	I215F	probably damaging	Het
Or7e178	A	G	9: 20,225,352 (GRCm39)	L288S	probably benign	Het
Phykpl	A	G	11: 51,477,502 (GRCm39)	E98G	probably benign	Het
Pikfyve	A	G	1: 65,303,558 (GRCm39)	N1648D	probably benign	Het
Plppr5	A	T	3: 117,465,581 (GRCm39)	R277S	probably benign	Het
Ppp1r36	T	A	12: 76,474,677 (GRCm39)	F86L	probably benign	Het
Ptgis	A	T	2: 167,056,753 (GRCm39)	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,488,229 (GRCm39)	F90Y	probably damaging	Het
Setd3	T	C	12: 108,073,838 (GRCm39)	K480E	probably benign	Het
Slc66a1	C	T	4: 139,027,610 (GRCm39)	S244N	possibly damaging	Het
Snx2	T	C	18: 53,345,983 (GRCm39)	F389L	probably benign	Het
Sulf2	G	A	2: 165,931,119 (GRCm39)	T296M	probably benign	Het
Supt16	A	T	14: 52,418,614 (GRCm39)	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,789,356 (GRCm39)	M12L	probably benign	Het
Tlk1	A	T	2: 70,575,909 (GRCm39)		probably null	Het
Tmprss7	C	T	16: 45,501,001 (GRCm39)	V267M	probably benign	Het
Tmub2	G	A	11: 102,179,174 (GRCm39)	R291H	probably damaging	Het
Trpm2	A	T	10: 77,783,822 (GRCm39)	V217E	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	G	2: 76,596,226 (GRCm39)	V20229A	probably benign	Het
Ttn	A	C	2: 76,608,538 (GRCm39)		probably null	Het
Usf2	T	A	7: 30,654,604 (GRCm39)	M199L	possibly damaging	Het
Usp37	A	T	1: 74,534,869 (GRCm39)	S26T	possibly damaging	Het
Vrk1	G	C	12: 106,024,884 (GRCm39)	Q253H	probably benign	Het
Wdr72	A	T	9: 74,064,534 (GRCm39)		probably null	Het
Xrra1	T	C	7: 99,525,449 (GRCm39)	F123L	probably damaging	Het
Zfhx3	T	C	8: 109,673,255 (GRCm39)	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,188,877 (GRCm39)	H550L	probably damaging	Het

Other mutations in Gm10644

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1914:Gm10644	UTSW	8	84,660,479 (GRCm39)	intron	probably benign
R1915:Gm10644	UTSW	8	84,660,479 (GRCm39)	intron	probably benign
R2184:Gm10644	UTSW	8	84,660,256 (GRCm39)	missense	possibly damaging	0.66
R5002:Gm10644	UTSW	8	84,660,216 (GRCm39)	missense	possibly damaging	0.90
R5848:Gm10644	UTSW	8	84,660,668 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCATGTGACAGCCCAGTTTCAG -3'
(R):5'- GTGACCACCAGCTTTATGGTCCAAG -3'

Sequencing Primer
(F):5'- GACAGCCCAGTTTCAGTGTATC -3'
(R):5'- TATGGTCCAAGCTGAAGCTC -3'

Posted On

2013-05-09