Mutagenetix > Incidental Mutation

Incidental Mutation 'R2023:9930111J21Rik1'

220152

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

MMRRC Submission

040032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48836977-48870208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48839247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 447 (S447P)

Ref Sequence

ENSEMBL: ENSMUSP00000095102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000097494] [ENSMUST00000104958]

AlphaFold

Q5SVP0

Predicted Effect

probably benign
Transcript: ENSMUST00000059930

SMART Domains

Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852

Domain	Start	End	E-Value	Type
Pfam:IIGP	27	389	8.4e-123	PFAM
Pfam:MMR_HSR1	63	190	2.2e-9	PFAM
low complexity region	421	432	N/A	INTRINSIC
Pfam:IIGP	438	811	3.4e-152	PFAM
Pfam:MMR_HSR1	474	632	1.4e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097494
AA Change: S447P

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: S447P

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	398	2e-125	PFAM
Pfam:DLIC	52	107	3.2e-5	PFAM
Pfam:MMR_HSR1	72	235	2e-11	PFAM
low complexity region	430	444	N/A	INTRINSIC
Pfam:IIGP	447	820	1.9e-153	PFAM
Pfam:MMR_HSR1	483	611	3.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104958

SMART Domains

Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153

Domain	Start	End	E-Value	Type
Pfam:PA28_alpha	11	71	1.2e-26	PFAM
Pfam:PA28_beta	93	237	5.3e-58	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	G	11: 48,911,144 (GRCm39)	F430L	probably benign	Het
Acap2	A	G	16: 30,938,233 (GRCm39)	V297A	probably damaging	Het
Adam3	G	A	8: 25,179,479 (GRCm39)	R613C	possibly damaging	Het
Akt1	C	T	12: 112,626,071 (GRCm39)	R67Q	probably benign	Het
Ambp	T	C	4: 63,069,702 (GRCm39)	Y108C	probably damaging	Het
Apob	A	G	12: 8,061,090 (GRCm39)	I3158V	probably benign	Het
Bank1	T	C	3: 136,031,679 (GRCm39)	T8A	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc88a	G	T	11: 29,413,546 (GRCm39)	E695*	probably null	Het
Cep68	A	C	11: 20,189,888 (GRCm39)	S375A	probably benign	Het
Cfap44	A	G	16: 44,236,375 (GRCm39)	I417V	probably benign	Het
Chrna2	T	A	14: 66,379,677 (GRCm39)	H5Q	probably benign	Het
Cog7	A	T	7: 121,536,193 (GRCm39)	I549K	probably damaging	Het
Col28a1	C	A	6: 8,083,783 (GRCm39)	S558I	possibly damaging	Het
Cyp4f14	A	G	17: 33,125,505 (GRCm39)	I385T	probably damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm5616	A	G	9: 48,361,928 (GRCm39)		noncoding transcript	Het
Gm5709	T	C	3: 59,543,142 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Itpr3	T	A	17: 27,321,785 (GRCm39)	M1054K	possibly damaging	Het
Kars1	T	C	8: 112,728,484 (GRCm39)	N200S	probably benign	Het
Kdm2a	C	A	19: 4,372,492 (GRCm39)	R951L	probably damaging	Het
Ldhd	T	A	8: 112,356,578 (GRCm39)	H61L	probably damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Micall2	A	G	5: 139,703,266 (GRCm39)	V190A	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,883 (GRCm39)	V627E	probably damaging	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nox3	A	G	17: 3,744,296 (GRCm39)		probably benign	Het
Or4b1d	G	T	2: 89,969,200 (GRCm39)	C94*	probably null	Het
Or5p63	A	G	7: 107,811,049 (GRCm39)	L229P	probably damaging	Het
Or6c1b	T	A	10: 129,273,451 (GRCm39)	Y257N	probably damaging	Het
Osbpl2	C	A	2: 179,791,969 (GRCm39)		probably null	Het
Pamr1	T	A	2: 102,464,880 (GRCm39)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Pgr	T	A	9: 8,958,399 (GRCm39)	V802D	probably damaging	Het
Pgs1	A	G	11: 117,893,228 (GRCm39)	E55G	probably benign	Het
Pkd2	T	A	5: 104,614,744 (GRCm39)		probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Ptprd	C	T	4: 75,875,341 (GRCm39)	E1240K	probably damaging	Het
Recql5	G	A	11: 115,784,466 (GRCm39)	T878I	probably benign	Het
Rnf17	A	G	14: 56,669,036 (GRCm39)	D233G	possibly damaging	Het
Sectm1a	A	G	11: 120,960,408 (GRCm39)		probably benign	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Srcin1	A	G	11: 97,416,872 (GRCm39)	S931P	probably benign	Het
Tcof1	C	T	18: 60,966,605 (GRCm39)	G329R	probably damaging	Het
Thsd7a	G	A	6: 12,327,535 (GRCm39)	H1446Y	probably benign	Het
Tlr11	A	G	14: 50,600,026 (GRCm39)	T671A	probably damaging	Het
Tmem171	C	A	13: 98,828,733 (GRCm39)	W139L	probably damaging	Het
Vmn2r101	C	T	17: 19,810,368 (GRCm39)	R385*	probably null	Het
Vps13c	A	T	9: 67,843,567 (GRCm39)		probably benign	Het
Wdr87-ps	G	T	7: 29,230,959 (GRCm39)		noncoding transcript	Het
Zfp287	A	C	11: 62,605,808 (GRCm39)	Y366*	probably null	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp523	A	G	17: 28,419,978 (GRCm39)		probably benign	Het
Zfp667	A	C	7: 6,308,416 (GRCm39)	K361N	possibly damaging	Het

Other mutations in 9930111J21Rik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:9930111J21Rik1	APN	11	48,839,039 (GRCm39)	missense	possibly damaging	0.66
IGL02189:9930111J21Rik1	APN	11	48,838,248 (GRCm39)	missense	probably benign	0.09
IGL02554:9930111J21Rik1	APN	11	48,838,830 (GRCm39)	missense	probably damaging	1.00
IGL03172:9930111J21Rik1	APN	11	48,839,003 (GRCm39)	missense	probably damaging	1.00
IGL03334:9930111J21Rik1	APN	11	48,838,302 (GRCm39)	missense	probably benign	0.09
R0502:9930111J21Rik1	UTSW	11	48,838,322 (GRCm39)	missense	possibly damaging	0.69
R0503:9930111J21Rik1	UTSW	11	48,838,322 (GRCm39)	missense	possibly damaging	0.69
R3704:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3705:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3714:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3715:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3961:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R3962:9930111J21Rik1	UTSW	11	48,838,803 (GRCm39)	missense	possibly damaging	0.95
R4867:9930111J21Rik1	UTSW	11	48,839,375 (GRCm39)	critical splice acceptor site	probably null
R5033:9930111J21Rik1	UTSW	11	48,838,533 (GRCm39)	missense	probably damaging	1.00
R5159:9930111J21Rik1	UTSW	11	48,839,352 (GRCm39)	missense	probably benign	0.06
R6567:9930111J21Rik1	UTSW	11	48,838,950 (GRCm39)	missense	probably benign	0.26
R6774:9930111J21Rik1	UTSW	11	48,838,143 (GRCm39)	missense	possibly damaging	0.94
R7730:9930111J21Rik1	UTSW	11	48,838,703 (GRCm39)	missense	probably benign	0.19
R7863:9930111J21Rik1	UTSW	11	48,838,101 (GRCm39)	missense	probably benign	0.18
R8408:9930111J21Rik1	UTSW	11	48,838,829 (GRCm39)	missense	probably damaging	1.00
R9381:9930111J21Rik1	UTSW	11	48,839,204 (GRCm39)	missense	probably damaging	1.00
R9400:9930111J21Rik1	UTSW	11	48,839,244 (GRCm39)	missense	possibly damaging	0.82
R9493:9930111J21Rik1	UTSW	11	48,838,191 (GRCm39)	missense	probably damaging	1.00
R9560:9930111J21Rik1	UTSW	11	48,839,082 (GRCm39)	missense	probably damaging	1.00
R9574:9930111J21Rik1	UTSW	11	48,838,496 (GRCm39)	missense	probably damaging	1.00
R9687:9930111J21Rik1	UTSW	11	48,839,249 (GRCm39)	missense	probably damaging	1.00
X0067:9930111J21Rik1	UTSW	11	48,838,869 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCCTCAAGGCATTGATAAAGC -3'
(R):5'- AATGGTGTCAGCAGCTGAGC -3'

Sequencing Primer
(F):5'- GATAAAGCTGGATTTTCCTGTCC -3'
(R):5'- GAACAAATTCCTAGGCCTTGC -3'

Posted On

2014-08-25