Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:Sp100'

461817

Institutional Source

Beutler Lab

Gene Symbol

Sp100

Ensembl Gene

ENSMUSG00000026222

Gene Name

nuclear antigen Sp100

Synonyms

MMRRC Submission

044126-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85649988-85709998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85679083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 303 (P303L)

Ref Sequence

ENSEMBL: ENSMUSP00000066399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054279] [ENSMUST00000066427] [ENSMUST00000145440] [ENSMUST00000147552] [ENSMUST00000150967] [ENSMUST00000153574] [ENSMUST00000155094]

AlphaFold

O35892

Predicted Effect

probably damaging
Transcript: ENSMUST00000054279
AA Change: P303L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222
AA Change: P303L

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	4.9e-47	PFAM
low complexity region	334	345	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000066427
AA Change: P303L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: P303L

Domain	Start	End	E-Value	Type
Pfam:Sp100	21	119	3.4e-40	PFAM
low complexity region	320	335	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
SAND	386	459	8.85e-38	SMART
BROMO	473	573	1.16e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140758

Predicted Effect

probably benign
Transcript: ENSMUST00000145440

SMART Domains

Protein: ENSMUSP00000120604
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	3.7e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147552
AA Change: P303L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222
AA Change: P303L

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.5e-46	PFAM
low complexity region	305	319	N/A	INTRINSIC
low complexity region	349	359	N/A	INTRINSIC
SAND	368	441	8.85e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000150967
AA Change: P303L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222
AA Change: P303L

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.1e-46	PFAM
low complexity region	324	334	N/A	INTRINSIC
SAND	343	416	8.85e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153574
AA Change: P303L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: P303L

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	9.2e-47	PFAM
low complexity region	342	352	N/A	INTRINSIC
SAND	361	434	8.85e-38	SMART
Blast:BROMO	453	476	9e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155094
AA Change: P303L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: P303L

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	1.6e-46	PFAM
low complexity region	320	335	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
SAND	386	459	8.85e-38	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,814,189	T2M	probably damaging	Het
4930590J08Rik	A	T	6: 91,919,115	R315W	probably damaging	Het
Atrn	A	T	2: 130,933,436	Y153F	possibly damaging	Het
C4b	A	G	17: 34,729,193	V1644A	probably damaging	Het
Carmil3	A	C	14: 55,498,940	K654T	probably damaging	Het
Cdh1	T	C	8: 106,666,332		probably null	Het
Chrna1	C	T	2: 73,568,100	V332M	probably benign	Het
Clca2	A	C	3: 145,092,125	V193G	possibly damaging	Het
Cyld	A	G	8: 88,729,842		probably null	Het
Dbt	A	T	3: 116,523,425	E83D	possibly damaging	Het
Deup1	T	C	9: 15,561,322	R471G	possibly damaging	Het
Dgcr2	T	A	16: 17,857,309	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,558,038	R524*	probably null	Het
Dnah5	A	T	15: 28,453,279	R4399W	probably damaging	Het
Egflam	G	A	15: 7,243,857	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,222,787	T211I	probably damaging	Het
Ep400	A	G	5: 110,735,520		probably benign	Het
Ermp1	C	G	19: 29,615,729	A788P	probably benign	Het
Ern1	A	G	11: 106,426,873	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,981,125	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,568,867	S444T	probably benign	Het
Gabra6	G	A	11: 42,307,441	T384M	probably benign	Het
Gm6169	A	G	13: 97,099,197	L14S	probably benign	Het
Gpbp1l1	T	C	4: 116,590,260	V379A	probably benign	Het
Hook2	G	T	8: 84,995,746	E305*	probably null	Het
Hoxa3	G	A	6: 52,172,588	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,341,915	P339Q	probably benign	Het
Igha	T	A	12: 113,260,090	T49S	probably benign	Het
Klra4	C	T	6: 130,053,053	V190M	possibly damaging	Het
Lats2	A	G	14: 57,696,131	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,421,616	T255A	probably benign	Het
Lpar6	A	G	14: 73,238,928	I110V	probably damaging	Het
Lrrtm4	A	G	6: 80,021,739	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,471,166	V371A	probably benign	Het
Muc20	A	T	16: 32,794,574	D144E	possibly damaging	Het
Nphp3	T	A	9: 104,020,746	D417E	probably damaging	Het
Olfr853	A	T	9: 19,537,333	I199K	probably benign	Het
Olfr889	A	G	9: 38,116,374	I193V	probably benign	Het
Paqr7	A	C	4: 134,507,720	Y296S	probably damaging	Het
Pcdha4	A	T	18: 36,954,755	T664S	probably damaging	Het
Pelo	T	A	13: 115,088,843	Y282F	probably benign	Het
Plxna2	A	T	1: 194,810,870	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,350,674	D319G	probably benign	Het
Pnmal1	C	A	7: 16,960,884	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,483,466		probably null	Het
Prkca	T	G	11: 108,014,310	I201L	probably benign	Het
Rfx2	G	A	17: 56,780,778	R538C	probably damaging	Het
Rph3a	T	C	5: 120,963,873	Q100R	probably damaging	Het
Rtel1	C	T	2: 181,330,815	R29*	probably null	Het
Scel	T	A	14: 103,605,624	Y547*	probably null	Het
Stk31	A	G	6: 49,469,302	S958G	probably benign	Het
Syne2	T	A	12: 76,008,865	V4168E	probably benign	Het
Tenm3	A	T	8: 48,646,498	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tmem248	T	A	5: 130,229,508	I14N	probably damaging	Het
Tor3a	T	C	1: 156,656,487	I298V	probably benign	Het
Trim69	A	T	2: 122,178,594	K378N	probably damaging	Het
Ttc28	C	T	5: 111,085,109	P151S	possibly damaging	Het
Uaca	T	C	9: 60,872,012	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,777,335	I343V	probably benign	Het
Wnk4	A	G	11: 101,261,221	T184A	probably damaging	Het
Ythdc2	T	A	18: 44,872,956	I1172K	possibly damaging	Het

Other mutations in Sp100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Sp100	APN	1	85670020	missense	possibly damaging	0.48
IGL01998:Sp100	APN	1	85666929	missense	probably benign	0.01
IGL02192:Sp100	APN	1	85708001	missense	probably damaging	0.99
IGL02809:Sp100	APN	1	85681124	missense	probably damaging	0.99
IGL03274:Sp100	APN	1	85707304	intron	probably benign
PIT4458001:Sp100	UTSW	1	85708116	missense	probably benign	0.10
R0115:Sp100	UTSW	1	85650131	splice site	probably benign
R0599:Sp100	UTSW	1	85681110	missense	possibly damaging	0.68
R0620:Sp100	UTSW	1	85659867	splice site	probably null
R0693:Sp100	UTSW	1	85667005	critical splice donor site	probably null
R0709:Sp100	UTSW	1	85694281	missense	probably damaging	0.96
R0744:Sp100	UTSW	1	85699744	missense	probably damaging	0.97
R0836:Sp100	UTSW	1	85699744	missense	probably damaging	0.97
R1175:Sp100	UTSW	1	85701420	missense	possibly damaging	0.83
R1496:Sp100	UTSW	1	85663521	splice site	probably benign
R1749:Sp100	UTSW	1	85699636	missense	possibly damaging	0.95
R2046:Sp100	UTSW	1	85709065	missense	possibly damaging	0.53
R2069:Sp100	UTSW	1	85681142	splice site	probably null
R2441:Sp100	UTSW	1	85703489	unclassified	probably benign
R3933:Sp100	UTSW	1	85681109	missense	probably benign	0.29
R4171:Sp100	UTSW	1	85706841	missense	probably benign	0.00
R4762:Sp100	UTSW	1	85701458	makesense	probably null
R4863:Sp100	UTSW	1	85705003	missense	probably benign	0.03
R5156:Sp100	UTSW	1	85673683	missense	probably damaging	1.00
R5273:Sp100	UTSW	1	85709104	missense	possibly damaging	0.86
R5635:Sp100	UTSW	1	85682264	intron	probably benign
R5810:Sp100	UTSW	1	85665285	missense	probably benign	0.12
R5910:Sp100	UTSW	1	85681140	critical splice donor site	probably null
R7466:Sp100	UTSW	1	85707239	missense	possibly damaging	0.93
R7514:Sp100	UTSW	1	85681139	nonsense	probably null
R7647:Sp100	UTSW	1	85692043	missense	possibly damaging	0.91
R7851:Sp100	UTSW	1	85706926	missense	probably benign	0.12
R7908:Sp100	UTSW	1	85708067	missense	possibly damaging	0.51
R8064:Sp100	UTSW	1	85681139	nonsense	probably null
R8094:Sp100	UTSW	1	85697098	missense	possibly damaging	0.95
R8757:Sp100	UTSW	1	85662564	missense	possibly damaging	0.92
R8785:Sp100	UTSW	1	85699751	critical splice donor site	probably benign
R9382:Sp100	UTSW	1	85699615	missense	probably damaging	0.99
R9453:Sp100	UTSW	1	85701458	makesense	probably null
R9464:Sp100	UTSW	1	85697030	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCCCAGTTTTATGGCAAAGG -3'
(R):5'- AGAGACCAGGTGACTCTTCATC -3'

Sequencing Primer
(F):5'- CAAAGGGCCTCTAGATTCAGTG -3'
(R):5'- TGTTAAAGAACCTAGCCTGCCTG -3'

Posted On

2017-02-28