Mutagenetix > Incidental Mutation

Incidental Mutation 'R8408:9930111J21Rik1'

652536

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

MMRRC Submission

067815-MU

Accession Numbers

Essential gene?

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

Stock #

R8408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48836977-48870208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48838829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 586 (M586K)

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 damaging
Transcript: ENSMUST00000097494
AA Change: M586K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: M586K

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,236,356 (GRCm39)	T1236A	possibly damaging	Het
Adamts4	T	C	1: 171,080,314 (GRCm39)	V289A	possibly damaging	Het
Ankrd44	A	T	1: 54,762,257 (GRCm39)	D522E	probably benign	Het
Asb14	A	G	14: 26,637,067 (GRCm39)	Y603C	probably damaging	Het
Bcl7b	A	G	5: 135,197,308 (GRCm39)		probably benign	Het
Cd5	T	C	19: 10,700,469 (GRCm39)	K345R	possibly damaging	Het
Celsr3	T	C	9: 108,708,988 (GRCm39)	F1278S	probably damaging	Het
Cndp1	T	A	18: 84,650,049 (GRCm39)	T215S	possibly damaging	Het
Crygb	T	G	1: 65,119,709 (GRCm39)	R90S	probably damaging	Het
Dlg4	T	A	11: 69,933,078 (GRCm39)	F555I	possibly damaging	Het
Dnah3	C	T	7: 119,551,728 (GRCm39)	V2864M	probably damaging	Het
Dnttip2	A	G	3: 122,070,351 (GRCm39)	E522G	probably damaging	Het
Ercc4	G	C	16: 12,948,001 (GRCm39)	R406P	probably benign	Het
Foxp1	G	A	6: 98,922,543 (GRCm39)	P430S	unknown	Het
Galnt1	A	G	18: 24,400,628 (GRCm39)	T245A	probably benign	Het
Gnl2	T	A	4: 124,938,082 (GRCm39)	N287K	probably damaging	Het
Jcad	C	A	18: 4,649,402 (GRCm39)	A91E	possibly damaging	Het
Kat6a	G	A	8: 23,352,275 (GRCm39)	V20I	probably damaging	Het
Kcnb2	A	G	1: 15,781,777 (GRCm39)	N883S	probably damaging	Het
Lrch3	A	T	16: 32,775,750 (GRCm39)	R205S	probably damaging	Het
Lrr1	A	G	12: 69,215,825 (GRCm39)	T66A	probably benign	Het
Lrrc37a	T	A	11: 103,351,635 (GRCm39)	I2569F	unknown	Het
Maip1	A	T	1: 57,449,102 (GRCm39)	Q161L	probably damaging	Het
Neb	T	C	2: 52,047,923 (GRCm39)	E6699G	probably benign	Het
Nup205	A	G	6: 35,202,182 (GRCm39)	R1305G	probably damaging	Het
Or1e19	T	A	11: 73,316,794 (GRCm39)	N5I	probably damaging	Het
Or5ac21	A	T	16: 59,124,418 (GRCm39)	R301*	probably null	Het
Pate1	G	A	9: 35,596,418 (GRCm39)	R116W	probably damaging	Het
Pcsk5	T	G	19: 17,410,809 (GRCm39)	E1861A	probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Per1	A	T	11: 68,999,953 (GRCm39)	D1215V	possibly damaging	Het
Phactr2	A	G	10: 13,129,570 (GRCm39)	S233P	probably damaging	Het
Pramel28	A	G	4: 143,692,212 (GRCm39)	V263A	probably benign	Het
Rgsl1	T	A	1: 153,701,435 (GRCm39)	N340Y	possibly damaging	Het
Rhot1	C	T	11: 80,114,786 (GRCm39)	P65S	probably damaging	Het
Scrn2	T	C	11: 96,921,869 (GRCm39)	L113P	probably damaging	Het
Sema6a	T	C	18: 47,381,958 (GRCm39)	K863R	probably benign	Het
Slc15a1	A	G	14: 121,715,528 (GRCm39)	V337A	possibly damaging	Het
Slc25a1	T	C	16: 17,743,720 (GRCm39)	D298G	probably benign	Het
Slc25a22	G	A	7: 141,011,737 (GRCm39)	P168S	probably benign	Het
Slc29a4	A	T	5: 142,691,109 (GRCm39)		probably null	Het
Slc35d1	T	C	4: 103,047,007 (GRCm39)	T264A		Het
Spice1	T	C	16: 44,205,060 (GRCm39)	S789P	probably damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tectb	T	C	19: 55,178,099 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,544,810 (GRCm39)	Y32764F	probably damaging	Het
Utrn	T	G	10: 12,545,887 (GRCm39)	S1684R	possibly damaging	Het
Zic1	G	T	9: 91,246,847 (GRCm39)	A75E	probably damaging	Het
Zswim4	A	G	8: 84,939,014 (GRCm39)	V956A	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
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
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'- TCATGAAGAGGTGGCGCTTG -3'
(R):5'- CCAAAGCTTCCCAATGTGAC -3'

Sequencing Primer
(F):5'- TTTGGGAAGTCAAAGTCAGACACATC -3'
(R):5'- GCTTCCCAATGTGACAATATGGG -3'

Posted On

2020-10-20