Mutagenetix > Incidental Mutation

Incidental Mutation 'R9493:9930111J21Rik1'

717068

Institutional Source

Beutler Lab

Gene Symbol

9930111J21Rik1

Ensembl Gene

ENSMUSG00000069893

Gene Name

RIKEN cDNA 9930111J21 gene 1

Synonyms

9930111J21Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9493 (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 G at 48838191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 799 (Y799H)

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: Y799H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: Y799H

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
Akap5	G	A	12: 76,375,041 (GRCm39)	A158T	probably damaging	Het
Aox4	A	G	1: 58,286,434 (GRCm39)	K689E	probably benign	Het
Arid1b	G	A	17: 5,046,423 (GRCm39)	A404T	unknown	Het
Bltp1	A	G	3: 37,065,885 (GRCm39)	N53S		Het
Camk2b	T	A	11: 5,929,711 (GRCm39)	D396V	probably damaging	Het
Cd53	T	A	3: 106,674,683 (GRCm39)	D128V	probably null	Het
Cdk15	G	T	1: 59,326,943 (GRCm39)	R208L	probably damaging	Het
Celsr1	T	G	15: 85,785,346 (GRCm39)	K2963Q	probably damaging	Het
Celsr2	A	G	3: 108,301,074 (GRCm39)	S2740P	probably damaging	Het
Clca4b	A	T	3: 144,632,964 (GRCm39)	L162H	probably damaging	Het
Cntn1	A	T	15: 92,189,644 (GRCm39)	T656S	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Dpy19l2	A	G	9: 24,530,459 (GRCm39)	Y507H	probably damaging	Het
Dsc3	A	T	18: 20,122,752 (GRCm39)	C57*	probably null	Het
Gramd1b	A	G	9: 40,217,689 (GRCm39)	Y621H	probably damaging	Het
Ifi207	A	T	1: 173,556,522 (GRCm39)	C739S	probably benign	Het
Il1rap	T	C	16: 26,541,702 (GRCm39)	S648P	probably benign	Het
Ints5	C	T	19: 8,872,686 (GRCm39)	T215I	probably damaging	Het
Itm2c	T	C	1: 85,834,255 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,137,907 (GRCm39)	S870T	probably benign	Het
Lrpprc	A	T	17: 85,015,548 (GRCm39)	F1288I	probably damaging	Het
Megf11	A	T	9: 64,547,376 (GRCm39)	H209L	probably damaging	Het
Mtss1	C	T	15: 58,926,869 (GRCm39)	R69H	probably damaging	Het
Nms	A	T	1: 38,980,982 (GRCm39)	H56L	probably benign	Het
Or4f54	G	A	2: 111,122,736 (GRCm39)	G41D	probably damaging	Het
Or4k36	C	T	2: 111,146,288 (GRCm39)	H155Y	probably damaging	Het
Or56a5	A	T	7: 104,793,497 (GRCm39)	M7K	possibly damaging	Het
Or5t17	T	C	2: 86,833,140 (GRCm39)	S276P	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pskh1	C	T	8: 106,639,598 (GRCm39)	R93*	probably null	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sec31b	C	A	19: 44,509,021 (GRCm39)	V653F	probably damaging	Het
Slc10a2	A	G	8: 5,139,047 (GRCm39)	V299A		Het
Slc6a15	A	G	10: 103,229,277 (GRCm39)	I105M	probably benign	Het
Smurf1	A	G	5: 144,833,395 (GRCm39)	V209A		Het
Snapc2	A	G	8: 4,304,591 (GRCm39)	E115G	probably damaging	Het
Sorcs2	T	C	5: 36,199,529 (GRCm39)	E592G	possibly damaging	Het
Spmip6	G	A	4: 41,508,614 (GRCm39)	P17L		Het
Styxl2	T	A	1: 165,926,410 (GRCm39)	K1067N	probably damaging	Het
Tcl1b1	A	T	12: 105,130,823 (GRCm39)	Q102L	probably damaging	Het
Tmc1	T	A	19: 20,801,644 (GRCm39)	N461Y	probably benign	Het
Trim59	C	A	3: 68,945,134 (GRCm39)	G69C	probably damaging	Het
Tubg1	A	G	11: 101,017,003 (GRCm39)	Y435C	probably damaging	Het
Ucp3	A	C	7: 100,131,911 (GRCm39)	H254P	probably benign	Het
Vav2	T	C	2: 27,157,276 (GRCm39)	D842G	probably damaging	Het
Vmn1r203	T	A	13: 22,708,423 (GRCm39)	L68H	probably damaging	Het
Wee2	A	G	6: 40,421,057 (GRCm39)	E49G	probably benign	Het
Zfr	A	G	15: 12,180,706 (GRCm39)		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
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
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
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'- CTCCCAGAAAATGTTTGCTGC -3'
(R):5'- CTCACTGGAAAACATTGCCAAG -3'

Sequencing Primer
(F):5'- GATTTAAGTTCGTGCCTGAAGCCAG -3'
(R):5'- TGCCAAGGATTTCAATGTGTC -3'

Posted On

2022-07-18