Mutagenetix > Incidental Mutation

Incidental Mutation 'R9518:B230104I21Rik'

718697

Institutional Source

Beutler Lab

Gene Symbol

B230104I21Rik

Ensembl Gene

ENSMUSG00000097871

Gene Name

RIKEN cDNA B230104I21 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R9518 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154420584-154434375 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 154434004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 63 (E63*)

Ref Sequence

ENSEMBL: ENSMUSP00000138001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030902] [ENSMUST00000070313] [ENSMUST00000097759] [ENSMUST00000105636] [ENSMUST00000105637] [ENSMUST00000105638] [ENSMUST00000181143]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030902

SMART Domains

Protein: ENSMUSP00000030902
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	217	8.75e-5	SMART
ZnF_C2H2	230	250	2.82e1	SMART
low complexity region	260	274	N/A	INTRINSIC
ZnF_C2H2	282	304	1.04e-3	SMART
ZnF_C2H2	310	332	1.6e-4	SMART
ZnF_C2H2	338	361	3.95e-4	SMART
ZnF_C2H2	367	389	1.95e-3	SMART
ZnF_C2H2	395	417	8.22e-2	SMART
ZnF_C2H2	424	451	9.96e0	SMART
low complexity region	496	517	N/A	INTRINSIC
low complexity region	520	540	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
ZnF_C2H2	951	973	5.29e-5	SMART
ZnF_C2H2	979	1002	1.6e-4	SMART
ZnF_C2H2	1008	1030	7.26e-3	SMART
low complexity region	1116	1132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070313

SMART Domains

Protein: ENSMUSP00000064546
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	218	8.75e-5	SMART
ZnF_C2H2	231	251	2.82e1	SMART
low complexity region	261	275	N/A	INTRINSIC
ZnF_C2H2	283	305	1.04e-3	SMART
ZnF_C2H2	311	333	1.6e-4	SMART
ZnF_C2H2	339	362	3.95e-4	SMART
ZnF_C2H2	368	390	1.95e-3	SMART
ZnF_C2H2	396	418	8.22e-2	SMART
ZnF_C2H2	425	452	9.96e0	SMART
low complexity region	497	518	N/A	INTRINSIC
low complexity region	521	541	N/A	INTRINSIC
low complexity region	611	642	N/A	INTRINSIC
ZnF_C2H2	953	975	5.29e-5	SMART
ZnF_C2H2	981	1004	1.6e-4	SMART
ZnF_C2H2	1010	1032	7.26e-3	SMART
low complexity region	1118	1134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097759

SMART Domains

Protein: ENSMUSP00000095365
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	217	8.75e-5	SMART
ZnF_C2H2	230	250	2.82e1	SMART
low complexity region	260	274	N/A	INTRINSIC
ZnF_C2H2	282	304	1.04e-3	SMART
ZnF_C2H2	310	332	1.6e-4	SMART
ZnF_C2H2	338	361	3.95e-4	SMART
ZnF_C2H2	367	389	1.95e-3	SMART
ZnF_C2H2	395	417	8.22e-2	SMART
ZnF_C2H2	424	451	9.96e0	SMART
low complexity region	496	517	N/A	INTRINSIC
low complexity region	520	540	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
ZnF_C2H2	952	974	5.29e-5	SMART
ZnF_C2H2	980	1003	1.6e-4	SMART
ZnF_C2H2	1009	1031	7.26e-3	SMART
low complexity region	1117	1133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105636

SMART Domains

Protein: ENSMUSP00000101261
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	218	8.75e-5	SMART
ZnF_C2H2	231	251	2.82e1	SMART
low complexity region	261	275	N/A	INTRINSIC
ZnF_C2H2	283	305	1.04e-3	SMART
ZnF_C2H2	311	333	1.6e-4	SMART
ZnF_C2H2	339	362	3.95e-4	SMART
ZnF_C2H2	368	390	1.95e-3	SMART
ZnF_C2H2	396	418	8.22e-2	SMART
ZnF_C2H2	425	452	9.96e0	SMART
low complexity region	497	518	N/A	INTRINSIC
low complexity region	521	541	N/A	INTRINSIC
low complexity region	611	642	N/A	INTRINSIC
ZnF_C2H2	952	974	5.29e-5	SMART
ZnF_C2H2	980	1003	1.6e-4	SMART
ZnF_C2H2	1009	1031	7.26e-3	SMART
low complexity region	1117	1133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105637

SMART Domains

Protein: ENSMUSP00000101262
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	216	8.75e-5	SMART
ZnF_C2H2	229	249	2.82e1	SMART
low complexity region	259	273	N/A	INTRINSIC
ZnF_C2H2	281	303	1.04e-3	SMART
ZnF_C2H2	309	331	1.6e-4	SMART
ZnF_C2H2	337	360	3.95e-4	SMART
ZnF_C2H2	366	388	1.95e-3	SMART
ZnF_C2H2	394	416	8.22e-2	SMART
ZnF_C2H2	423	450	9.96e0	SMART
low complexity region	495	516	N/A	INTRINSIC
low complexity region	519	539	N/A	INTRINSIC
low complexity region	609	640	N/A	INTRINSIC
ZnF_C2H2	950	972	5.29e-5	SMART
ZnF_C2H2	978	1001	1.6e-4	SMART
ZnF_C2H2	1007	1029	7.26e-3	SMART
low complexity region	1115	1131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105638

SMART Domains

Protein: ENSMUSP00000101263
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	217	8.75e-5	SMART
ZnF_C2H2	230	250	2.82e1	SMART
low complexity region	260	274	N/A	INTRINSIC
ZnF_C2H2	282	304	1.04e-3	SMART
ZnF_C2H2	310	332	1.6e-4	SMART
ZnF_C2H2	338	361	3.95e-4	SMART
ZnF_C2H2	367	389	1.95e-3	SMART
ZnF_C2H2	395	417	8.22e-2	SMART
ZnF_C2H2	424	451	9.96e0	SMART
low complexity region	496	517	N/A	INTRINSIC
low complexity region	520	540	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
ZnF_C2H2	952	974	5.29e-5	SMART
ZnF_C2H2	980	1003	1.6e-4	SMART
ZnF_C2H2	1009	1031	7.26e-3	SMART
low complexity region	1117	1133	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000181143
AA Change: E63*

SMART Domains

Protein: ENSMUSP00000138001
Gene: ENSMUSG00000097871
AA Change: E63*

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	C	5: 24,771,560 (GRCm39)	T556A	possibly damaging	Het
Brd10	A	T	19: 29,731,541 (GRCm39)	H490Q	possibly damaging	Het
Brpf1	A	G	6: 113,286,795 (GRCm39)	K8E	possibly damaging	Het
Cacna1i	G	A	15: 80,271,978 (GRCm39)	G1582D	probably damaging	Het
Ccdc162	T	A	10: 41,465,572 (GRCm39)	D1428V	probably damaging	Het
Ccdc178	G	A	18: 22,278,516 (GRCm39)	T69I	possibly damaging	Het
Ccdc62	T	A	5: 124,089,288 (GRCm39)	L309I	possibly damaging	Het
Ces5a	T	C	8: 94,257,430 (GRCm39)	N125S	probably damaging	Het
Cps1	G	T	1: 67,259,662 (GRCm39)	V1335L	probably damaging	Het
Desi2	A	G	1: 178,015,492 (GRCm39)	N4S	probably benign	Het
Dlx6	C	A	6: 6,863,406 (GRCm39)	D9E	probably damaging	Het
Dnah12	A	C	14: 26,495,713 (GRCm39)	D198A	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dpp8	T	C	9: 64,981,866 (GRCm39)	M716T	possibly damaging	Het
Dvl3	T	A	16: 20,335,961 (GRCm39)	I6N	possibly damaging	Het
Egflam	A	G	15: 7,319,263 (GRCm39)		probably null	Het
Eprs1	A	T	1: 185,111,763 (GRCm39)	M258L	probably benign	Het
Etnk1	A	T	6: 143,149,144 (GRCm39)	M352L	probably benign	Het
Fam124a	A	C	14: 62,824,947 (GRCm39)	D147A	probably damaging	Het
Fstl4	A	G	11: 53,056,647 (GRCm39)	D468G	possibly damaging	Het
Grm8	T	A	6: 27,429,469 (GRCm39)	Q475L	probably benign	Het
Kel	T	C	6: 41,679,334 (GRCm39)	E143G	probably damaging	Het
Kif21a	A	G	15: 90,840,676 (GRCm39)	Y1147H	probably damaging	Het
Kndc1	A	G	7: 139,519,827 (GRCm39)	K1729E	probably damaging	Het
Map4k1	G	A	7: 28,693,496 (GRCm39)	R433H	probably benign	Het
Mettl14	T	C	3: 123,167,687 (GRCm39)	I224V	probably benign	Het
Mgat5b	A	G	11: 116,869,299 (GRCm39)	N614S	probably benign	Het
Mlh3	C	T	12: 85,313,004 (GRCm39)	V1061I	probably benign	Het
Mtcl3	T	A	10: 29,022,748 (GRCm39)	C32S	probably benign	Het
Myo1h	T	C	5: 114,497,588 (GRCm39)	V27A	probably damaging	Het
Naip5	A	T	13: 100,358,367 (GRCm39)	H956Q	probably benign	Het
Or11h7	A	T	14: 50,891,101 (GRCm39)	M136L	probably damaging	Het
Or13p3	A	G	4: 118,567,120 (GRCm39)	N172S	probably damaging	Het
Pcdh7	A	T	5: 58,070,513 (GRCm39)	T1064S	possibly damaging	Het
Peg3	T	C	7: 6,714,280 (GRCm39)	E314G	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	A	T	9: 8,922,645 (GRCm39)	D605V	probably damaging	Het
Prdm2	T	C	4: 142,860,579 (GRCm39)	S904G	possibly damaging	Het
Prpf8	T	C	11: 75,394,486 (GRCm39)	I1807T	possibly damaging	Het
Serpinb3c	T	A	1: 107,200,468 (GRCm39)	Q225L	probably damaging	Het
Strn3	A	C	12: 51,696,956 (GRCm39)	D258E	probably damaging	Het
Tent2	A	G	13: 93,320,612 (GRCm39)	I147T	probably benign	Het
Tgm2	C	T	2: 157,985,049 (GRCm39)	R19H	probably benign	Het
Themis	T	A	10: 28,544,748 (GRCm39)		probably null	Het
Trim28	C	T	7: 12,764,445 (GRCm39)	P753S	probably damaging	Het
Vac14	C	T	8: 111,442,070 (GRCm39)	Q683*	probably null	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp541	T	C	7: 15,813,036 (GRCm39)	I563T	possibly damaging	Het

Other mutations in B230104I21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1927:B230104I21Rik	UTSW	4	154,425,694 (GRCm39)	missense	probably damaging	1.00
R4823:B230104I21Rik	UTSW	4	154,434,204 (GRCm39)	intron	probably benign
R5270:B230104I21Rik	UTSW	4	154,434,050 (GRCm39)	intron	probably benign
R5899:B230104I21Rik	UTSW	4	154,433,986 (GRCm39)	nonsense	probably null
R7262:B230104I21Rik	UTSW	4	154,434,091 (GRCm39)	missense	unknown
R7453:B230104I21Rik	UTSW	4	154,432,185 (GRCm39)	missense	unknown
R7597:B230104I21Rik	UTSW	4	154,434,050 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGCAACTGTGTGGGAAG -3'
(R):5'- AGTACTGTCCACCCAGTCATC -3'

Sequencing Primer
(F):5'- CTGTGTGGGAAGGTCATAAGGACTG -3'
(R):5'- CTAAGCATACACATGTCCGTTC -3'

Posted On

2022-07-18