Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:9930111J21Rik1'

283777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

48836977-48870208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48838248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 780 (Y780N)

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

probably benign
Transcript: ENSMUST00000097494
AA Change: Y780N

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: Y780N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,609 (GRCm39)	S375P	probably damaging	Het
Abi1	A	C	2: 22,930,076 (GRCm39)	M1R	probably null	Het
Acss1	T	C	2: 150,471,788 (GRCm39)	D322G	probably damaging	Het
Adam22	G	A	5: 8,380,029 (GRCm39)	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,648,275 (GRCm39)	H515R	probably benign	Het
C3	T	C	17: 57,527,113 (GRCm39)	K779E	probably benign	Het
Cfhr2	A	G	1: 139,749,497 (GRCm39)	Y162H	probably damaging	Het
Chchd5	T	C	2: 128,975,188 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 16,321,620 (GRCm39)	I493F	probably damaging	Het
Daam1	A	T	12: 71,993,059 (GRCm39)	R349S	unknown	Het
Dnah11	T	C	12: 118,046,314 (GRCm39)	E1708G	probably benign	Het
Epg5	A	G	18: 78,056,085 (GRCm39)	D1753G	probably damaging	Het
Flt4	T	G	11: 49,516,830 (GRCm39)	C206G	probably damaging	Het
Fscn1	G	T	5: 142,946,375 (GRCm39)	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,618,556 (GRCm39)	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121 (GRCm39)	S70T	possibly damaging	Het
H2-K2	A	G	17: 34,218,466 (GRCm39)	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,649,454 (GRCm39)	I290L	probably benign	Het
Iws1	A	G	18: 32,226,178 (GRCm39)	R689G	probably damaging	Het
Klk1b22	A	G	7: 43,765,630 (GRCm39)		probably null	Het
Klra4	T	A	6: 130,021,105 (GRCm39)	D230V	possibly damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Liat1	A	G	11: 75,891,056 (GRCm39)	K57E	probably damaging	Het
Lilra5	A	T	7: 4,240,968 (GRCm39)	M21L	probably benign	Het
Lrrc20	T	A	10: 61,362,887 (GRCm39)	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,116,624 (GRCm39)	M426L	probably damaging	Het
Mylk2	C	T	2: 152,757,074 (GRCm39)	P283L	probably damaging	Het
Mynn	T	A	3: 30,667,693 (GRCm39)		probably benign	Het
Odr4	G	T	1: 150,247,784 (GRCm39)	N356K	possibly damaging	Het
Or4c1	A	C	2: 89,133,641 (GRCm39)	C98W	probably damaging	Het
Parl	T	A	16: 20,116,453 (GRCm39)	I116F	probably damaging	Het
Pdlim3	T	C	8: 46,338,630 (GRCm39)	V5A	probably damaging	Het
Pld1	G	A	3: 28,174,932 (GRCm39)	V857I	probably benign	Het
Ptprf	T	A	4: 118,070,839 (GRCm39)		probably benign	Het
Ptprn	A	G	1: 75,235,139 (GRCm39)	S170P	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps27a	C	A	11: 29,496,772 (GRCm39)	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,585,183 (GRCm39)		probably benign	Het
Scube3	G	T	17: 28,381,970 (GRCm39)	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,235,351 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,123,693 (GRCm39)	E818G	probably benign	Het
Slc16a3	G	A	11: 120,847,597 (GRCm39)	V262I	probably benign	Het
Sptbn1	T	A	11: 30,067,871 (GRCm39)	D1781V	probably damaging	Het
Ssr1	C	T	13: 38,171,492 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,064,283 (GRCm39)	L2442S	probably benign	Het
Tonsl	A	T	15: 76,507,378 (GRCm39)	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,496,354 (GRCm39)	H468L	probably benign	Het
Ttc27	C	T	17: 75,036,894 (GRCm39)	T189M	probably damaging	Het
Ttn	T	C	2: 76,720,500 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,590,239 (GRCm39)	I21157L	probably damaging	Het
Vav3	T	A	3: 109,433,276 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	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
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
R2023:9930111J21Rik1	UTSW	11	48,839,247 (GRCm39)	missense	possibly damaging	0.51
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

Posted On

2015-04-16