Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Smgc'

557259

Institutional Source

Beutler Lab

Gene Symbol

Smgc

Ensembl Gene

ENSMUSG00000047295

Gene Name

submandibular gland protein C

Synonyms

Sfc21, DXImx49e, 2310010P21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7155 (G1)

Quality Score

99.0078

Status

Not validated

Chromosome

Chromosomal Location

91838265-91861438 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91852608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 463 (I463F)

Ref Sequence

ENSEMBL: ENSMUSP00000085915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088555] [ENSMUST00000100293] [ENSMUST00000109276] [ENSMUST00000109277] [ENSMUST00000130014]

AlphaFold

Q6JHY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088555
AA Change: I463F

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: I463F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
internal_repeat_1	55	224	2.76e-22	PROSPERO
low complexity region	225	235	N/A	INTRINSIC
low complexity region	256	270	N/A	INTRINSIC
internal_repeat_1	294	464	2.76e-22	PROSPERO
low complexity region	563	574	N/A	INTRINSIC
low complexity region	609	626	N/A	INTRINSIC
low complexity region	652	667	N/A	INTRINSIC
low complexity region	677	701	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100293
AA Change: I463F

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: I463F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
internal_repeat_2	32	180	5.58e-9	PROSPERO
internal_repeat_1	55	224	1.24e-22	PROSPERO
low complexity region	225	235	N/A	INTRINSIC
low complexity region	256	270	N/A	INTRINSIC
internal_repeat_1	294	464	1.24e-22	PROSPERO
internal_repeat_2	420	569	5.58e-9	PROSPERO
low complexity region	576	593	N/A	INTRINSIC
low complexity region	619	634	N/A	INTRINSIC
low complexity region	644	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109276

SMART Domains

Protein: ENSMUSP00000104899
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	76	91	N/A	INTRINSIC
low complexity region	101	125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109277

SMART Domains

Protein: ENSMUSP00000104900
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
low complexity region	72	96	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130014

SMART Domains

Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
internal_repeat_1	113	156	5.82e-16	PROSPERO
low complexity region	179	189	N/A	INTRINSIC
low complexity region	210	224	N/A	INTRINSIC
internal_repeat_1	233	276	5.82e-16	PROSPERO
low complexity region	304	319	N/A	INTRINSIC
low complexity region	329	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132674

SMART Domains

Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
internal_repeat_1	12	37	9.28e-9	PROSPERO
low complexity region	180	191	N/A	INTRINSIC
internal_repeat_1	194	219	9.28e-9	PROSPERO
low complexity region	226	243	N/A	INTRINSIC
low complexity region	269	284	N/A	INTRINSIC
low complexity region	294	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136172

SMART Domains

Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
low complexity region	155	166	N/A	INTRINSIC
low complexity region	201	218	N/A	INTRINSIC
low complexity region	244	259	N/A	INTRINSIC
low complexity region	269	288	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,569	L63P	possibly damaging	Het
Abca13	A	T	11: 9,529,010	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 24,911,589	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,591,933	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,865,813	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,709,572	Y383*	probably null	Het
Aste1	C	T	9: 105,405,136	P614L	probably damaging	Het
B3galt5	T	A	16: 96,315,805	S213T	probably damaging	Het
Bak1	A	G	17: 27,022,460	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Bdp1	T	G	13: 100,061,151	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,395,238	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,061,773	P246Q	probably damaging	Het
Colgalt1	T	C	8: 71,623,710	S602P	probably damaging	Het
Csde1	T	C	3: 103,039,953	S74P	probably damaging	Het
Cyp51	A	T	5: 4,087,846	C366S	possibly damaging	Het
Dcaf7	A	G	11: 106,037,190	N23D	probably damaging	Het
Ddx10	G	A	9: 53,117,288	A772V	probably benign	Het
Ddx4	A	G	13: 112,613,785	F404S	probably benign	Het
Dirc2	G	T	16: 35,735,577	T171K	probably benign	Het
Dlg4	T	A	11: 70,017,216	M1K	probably null	Het
Dnajc6	T	C	4: 101,612,945	V293A	probably damaging	Het
Etl4	G	T	2: 20,806,931	R1643L	probably damaging	Het
F13b	G	A	1: 139,508,157	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,225,729	I633T	probably benign	Het
Frem3	A	G	8: 80,616,039	I1654V	probably benign	Het
Galr2	A	G	11: 116,283,582	E346G	possibly damaging	Het
Gck	G	A	11: 5,949,705		probably benign	Het
Gen1	G	T	12: 11,241,832	T717K	probably benign	Het
Gm13083	A	T	4: 143,616,165	I281F	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hat1	A	G	2: 71,421,251	T215A	possibly damaging	Het
Hmbox1	A	T	14: 64,897,037	M38K	probably damaging	Het
Ifi47	A	G	11: 49,096,542	K379E	probably benign	Het
Ift81	T	C	5: 122,568,999	Y460C	probably damaging	Het
Jarid2	T	A	13: 44,902,462	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,579,963	V1458E	probably damaging	Het
Kpna4	G	T	3: 69,089,933	P336Q	probably damaging	Het
Krt84	T	C	15: 101,532,254	R168G	probably damaging	Het
Lhx8	T	A	3: 154,324,584	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,370,227	E19G	probably damaging	Het
Lrmda	A	T	14: 22,584,540	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,553,678	A280T	possibly damaging	Het
Megf11	G	A	9: 64,647,951	R268K	probably null	Het
Mgat4e	G	T	1: 134,541,959	Q116K	probably damaging	Het
Mlkl	A	G	8: 111,319,403	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641	L134P	probably damaging	Het
Myo19	A	G	11: 84,900,586	E489G	probably damaging	Het
Ncbp3	C	A	11: 73,048,009	P37Q	probably damaging	Het
Nf2	A	G	11: 4,799,964	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,124,079	M115K	possibly damaging	Het
Nsf	T	A	11: 103,828,530	K649*	probably null	Het
Olfml2b	A	T	1: 170,666,785	I313L	probably benign	Het
Olfr316	T	A	11: 58,758,283	I206N	probably damaging	Het
Olfr654	T	A	7: 104,588,557	V251D	possibly damaging	Het
Papln	T	A	12: 83,776,521	L444Q	probably damaging	Het
Phc3	T	C	3: 30,914,197	I897V	probably benign	Het
Plcg1	T	C	2: 160,754,380	L632P	probably damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Ptges	T	A	2: 30,892,804	T79S	probably benign	Het
Rab26	T	C	17: 24,532,289	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,003	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 90,002,361	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,094,826	I755F	probably damaging	Het
Rims1	T	G	1: 22,432,923	L670F	probably damaging	Het
Rtkn	G	A	6: 83,149,711	C297Y	probably damaging	Het
Sec23a	A	T	12: 58,989,443	N378K	probably benign	Het
Slc17a2	A	G	13: 23,822,407	E472G	probably benign	Het
Slc1a2	T	C	2: 102,766,995	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,433,631	L369F	possibly damaging	Het
Smad6	G	T	9: 64,021,787	D82E	unknown	Het
Strada	C	A	11: 106,171,039	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,593,891	V309A	probably benign	Het
Tet2	C	T	3: 133,469,591	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,632	N366D	probably damaging	Het
Tll2	G	A	19: 41,117,284	P369L	possibly damaging	Het
Tox4	T	C	14: 52,292,097	V505A	probably benign	Het
Trbv4	A	G	6: 41,059,853	D104G	probably damaging	Het
Ugdh	T	C	5: 65,417,037	E416G	probably damaging	Het
Usp47	T	A	7: 112,087,013	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,138,162	N270K	probably benign	Het
Wsb2	T	A	5: 117,371,095	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,979,145	A453T	possibly damaging	Het
Zan	A	G	5: 137,461,844	S1262P	unknown	Het
Zswim4	A	G	8: 84,219,927	L700P	probably damaging	Het

Other mutations in Smgc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Smgc	APN	15	91854543	splice site	probably benign
IGL00835:Smgc	APN	15	91844420	missense	probably damaging	0.99
IGL01651:Smgc	APN	15	91859788	intron	probably benign
IGL01669:Smgc	APN	15	91860684	missense	possibly damaging	0.89
IGL01743:Smgc	APN	15	91854593	missense	probably benign	0.19
IGL01898:Smgc	APN	15	91844524	splice site	probably null
IGL03152:Smgc	APN	15	91841422	missense	possibly damaging	0.66
IGL03172:Smgc	APN	15	91860444	missense	probably damaging	0.99
IGL03352:Smgc	APN	15	91860678	missense	probably damaging	0.96
IGL03385:Smgc	APN	15	91841978	missense	possibly damaging	0.66
K7371:Smgc	UTSW	15	91860255	splice site	probably benign
R0090:Smgc	UTSW	15	91859762	missense	possibly damaging	0.91
R0125:Smgc	UTSW	15	91854543	splice site	probably benign
R0386:Smgc	UTSW	15	91854638	missense	probably benign	0.07
R0684:Smgc	UTSW	15	91841467	unclassified	probably benign
R1187:Smgc	UTSW	15	91860600	missense	probably damaging	0.99
R1586:Smgc	UTSW	15	91838393	missense	possibly damaging	0.90
R1848:Smgc	UTSW	15	91859758	missense	possibly damaging	0.58
R1964:Smgc	UTSW	15	91860270	missense	probably damaging	1.00
R2144:Smgc	UTSW	15	91844421	missense	possibly damaging	0.81
R3499:Smgc	UTSW	15	91842003	missense	possibly damaging	0.66
R3842:Smgc	UTSW	15	91860262	splice site	probably benign
R3978:Smgc	UTSW	15	91860348	missense	probably damaging	0.99
R4173:Smgc	UTSW	15	91860561	missense	possibly damaging	0.95
R4692:Smgc	UTSW	15	91854561	missense	possibly damaging	0.46
R4761:Smgc	UTSW	15	91845514	missense	possibly damaging	0.66
R4794:Smgc	UTSW	15	91841454	missense	probably benign	0.27
R4801:Smgc	UTSW	15	91854616	missense	probably benign	0.01
R4802:Smgc	UTSW	15	91854616	missense	probably benign	0.01
R5621:Smgc	UTSW	15	91844420	missense	probably damaging	0.99
R5672:Smgc	UTSW	15	91841905	missense	possibly damaging	0.46
R5707:Smgc	UTSW	15	91860663	missense	possibly damaging	0.66
R5722:Smgc	UTSW	15	91841906	missense	possibly damaging	0.83
R6212:Smgc	UTSW	15	91850627	intron	probably benign
R6767:Smgc	UTSW	15	91841398	missense	possibly damaging	0.46
R7049:Smgc	UTSW	15	91860378	missense	possibly damaging	0.82
R7210:Smgc	UTSW	15	91860294	missense	probably damaging	0.99
R7448:Smgc	UTSW	15	91845493	missense	probably benign	0.02
R7474:Smgc	UTSW	15	91860694	missense	possibly damaging	0.92
R7890:Smgc	UTSW	15	91847076	missense	possibly damaging	0.46
R8115:Smgc	UTSW	15	91849119	critical splice donor site	probably null
R8948:Smgc	UTSW	15	91838362	unclassified	probably benign
R9445:Smgc	UTSW	15	91845462	missense	probably benign	0.02
Z1177:Smgc	UTSW	15	91856621	missense	unknown
Z1177:Smgc	UTSW	15	91856626	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCATGGGGAGATCATCATTTTC -3'
(R):5'- AGCACACCATTGGACCTAGG -3'

Sequencing Primer
(F):5'- GTAGGTAGCTTACTTATTGCCAAG -3'
(R):5'- TGGACCTAGGTTCACAACATATCAG -3'

Posted On

2019-06-26