Mutagenetix > Incidental Mutation

Incidental Mutation 'R8891:1110002E22Rik'

677675

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

068753-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R8891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137770813-137787267 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 137772520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 570 (K570*)

Ref Sequence

ENSEMBL: ENSMUSP00000123851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053318] [ENSMUST00000163080]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053318

Predicted Effect

probably null
Transcript: ENSMUST00000163080
AA Change: K570*

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: K570*

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	229	247	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	459	505	N/A	INTRINSIC
low complexity region	667	680	N/A	INTRINSIC
low complexity region	937	948	N/A	INTRINSIC
low complexity region	995	1007	N/A	INTRINSIC
low complexity region	1105	1115	N/A	INTRINSIC
low complexity region	1224	1242	N/A	INTRINSIC
low complexity region	1376	1385	N/A	INTRINSIC
Pfam:DUF4585	1598	1667	6.9e-32	PFAM
low complexity region	1723	1738	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,861,262 (GRCm39)	I99V	probably damaging	Het
Abtb3	G	A	10: 85,223,958 (GRCm39)	G256R	unknown	Het
Adgrg7	T	A	16: 56,572,762 (GRCm39)	E351D	probably benign	Het
Ankrd34c	T	G	9: 89,612,143 (GRCm39)	K66T	probably damaging	Het
Asap2	C	T	12: 21,162,144 (GRCm39)	R34W	probably damaging	Het
Atr	A	G	9: 95,787,813 (GRCm39)	T1469A	probably benign	Het
Ccdc168	T	C	1: 44,096,284 (GRCm39)	I1605V	probably benign	Het
Celsr1	G	T	15: 85,822,194 (GRCm39)	R1708S	probably benign	Het
Chmp2a	T	A	7: 12,767,840 (GRCm39)	E28D	probably benign	Het
Cldn24	A	T	8: 48,275,281 (GRCm39)	N35I	probably benign	Het
Coa6	G	C	8: 127,149,570 (GRCm39)		probably null	Het
Copa	C	T	1: 171,946,818 (GRCm39)	R1009C	probably damaging	Het
Crybb2	G	A	5: 113,209,913 (GRCm39)	T150M	possibly damaging	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Eid3	A	G	10: 82,702,992 (GRCm39)	N151S	probably damaging	Het
Fbxo17	G	T	7: 28,434,733 (GRCm39)	V173L	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,415,433 (GRCm39)	N240S	probably damaging	Het
Gck	G	T	11: 5,851,733 (GRCm39)	S445R	probably damaging	Het
Gm5114	C	A	7: 39,057,718 (GRCm39)	V634F	probably benign	Het
Gnat2	G	A	3: 108,005,634 (GRCm39)	D200N		Het
H13	A	G	2: 152,546,049 (GRCm39)	N390S	probably benign	Het
Helz	T	A	11: 107,552,842 (GRCm39)	M1206K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank1	G	A	19: 25,387,439 (GRCm39)	G371R	probably benign	Het
Kif13b	A	G	14: 64,982,326 (GRCm39)	T513A	probably damaging	Het
L3mbtl4	T	C	17: 68,762,781 (GRCm39)	S105P	possibly damaging	Het
Lpo	T	A	11: 87,697,848 (GRCm39)	E653V	probably benign	Het
Lyst	A	G	13: 13,887,435 (GRCm39)	D3088G	possibly damaging	Het
Man2b1	C	A	8: 85,811,084 (GRCm39)	H72N	probably damaging	Het
Mast3	A	T	8: 71,233,801 (GRCm39)	H981Q	probably damaging	Het
Meioc	T	A	11: 102,559,246 (GRCm39)	I56N	probably benign	Het
Mul1	A	C	4: 138,162,164 (GRCm39)	K32Q	probably benign	Het
Oas1c	C	T	5: 120,946,126 (GRCm39)	S124N	probably benign	Het
Omg	T	A	11: 79,393,829 (GRCm39)	K10*	probably null	Het
Or2a52	A	G	6: 43,144,750 (GRCm39)	I253V	probably benign	Het
Or4k52	A	T	2: 111,611,186 (GRCm39)	I174F	probably damaging	Het
Or6c88	A	G	10: 129,407,046 (GRCm39)	H174R	probably damaging	Het
Pcdhb14	T	A	18: 37,582,692 (GRCm39)	N599K	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Phf7	C	A	14: 30,971,613 (GRCm39)		probably benign	Het
Pramel15	C	T	4: 144,099,397 (GRCm39)	C456Y	probably damaging	Het
Qdpr	T	C	5: 45,604,982 (GRCm39)	N42S	probably damaging	Het
Rbm44	T	A	1: 91,090,136 (GRCm39)	D716E	probably benign	Het
Rprd2	A	C	3: 95,671,367 (GRCm39)	H1345Q	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,814,768 (GRCm39)	A668V	probably damaging	Het
Sag	T	A	1: 87,759,683 (GRCm39)	L307Q	probably damaging	Het
Sash1	G	A	10: 8,603,734 (GRCm39)	P1106L	probably damaging	Het
Sec16b	T	A	1: 157,382,409 (GRCm39)	I615N	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,628,993 (GRCm39)	V600A	probably benign	Het
Sucnr1	A	G	3: 59,994,263 (GRCm39)	T264A	probably benign	Het
Tbx3	A	G	5: 119,809,983 (GRCm39)		probably benign	Het
Tigd5	T	C	15: 75,783,069 (GRCm39)	V477A	possibly damaging	Het
Tle7	T	A	8: 110,836,763 (GRCm39)	S216R	possibly damaging	Het
Ttc17	G	A	2: 94,192,764 (GRCm39)	A89V	probably damaging	Het
Twsg1	A	G	17: 66,255,657 (GRCm39)	I39T		Het
Zfp184	T	C	13: 22,143,512 (GRCm39)	F406S	probably damaging	Het
Zfp429	A	T	13: 67,538,830 (GRCm39)	C205S	probably damaging	Het
Zfp59	T	A	7: 27,554,313 (GRCm39)	D588E	probably benign	Het
Zfp64	A	T	2: 168,797,083 (GRCm39)	M1K	probably null	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	137,772,566 (GRCm39)	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	137,773,065 (GRCm39)	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	137,776,067 (GRCm39)	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	137,774,005 (GRCm39)	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	137,774,704 (GRCm39)	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	137,773,986 (GRCm39)	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	137,775,838 (GRCm39)	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	137,772,967 (GRCm39)	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	137,772,632 (GRCm39)	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	137,773,661 (GRCm39)	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	137,773,313 (GRCm39)	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	137,771,162 (GRCm39)	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	137,775,181 (GRCm39)	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	137,772,479 (GRCm39)	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	137,773,031 (GRCm39)	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	137,773,028 (GRCm39)	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	137,770,934 (GRCm39)	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	137,773,541 (GRCm39)	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	137,771,443 (GRCm39)	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	137,774,168 (GRCm39)	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	137,772,400 (GRCm39)	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	137,773,834 (GRCm39)	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	137,776,027 (GRCm39)	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	137,775,520 (GRCm39)	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	137,774,246 (GRCm39)	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	137,775,751 (GRCm39)	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	137,771,503 (GRCm39)	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	137,771,131 (GRCm39)	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	137,771,437 (GRCm39)	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	137,774,780 (GRCm39)	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	137,775,433 (GRCm39)	missense	probably benign
R5206:1110002E22Rik	UTSW	3	137,772,272 (GRCm39)	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	137,771,611 (GRCm39)	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5374:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5506:1110002E22Rik	UTSW	3	137,773,708 (GRCm39)	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	137,772,260 (GRCm39)	missense	probably benign
R5536:1110002E22Rik	UTSW	3	137,772,149 (GRCm39)	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	137,771,170 (GRCm39)	missense	probably benign
R5759:1110002E22Rik	UTSW	3	137,774,419 (GRCm39)	missense	probably benign
R5933:1110002E22Rik	UTSW	3	137,776,109 (GRCm39)	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	137,775,922 (GRCm39)	missense	probably benign
R6092:1110002E22Rik	UTSW	3	137,774,701 (GRCm39)	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	137,773,741 (GRCm39)	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	137,772,383 (GRCm39)	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	137,772,736 (GRCm39)	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	137,774,561 (GRCm39)	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	137,773,288 (GRCm39)	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	137,772,386 (GRCm39)	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	137,774,915 (GRCm39)	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	137,771,971 (GRCm39)	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	137,770,930 (GRCm39)	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	137,773,811 (GRCm39)	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	137,771,272 (GRCm39)	missense	probably benign
R7145:1110002E22Rik	UTSW	3	137,775,820 (GRCm39)	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	137,775,712 (GRCm39)	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	137,771,237 (GRCm39)	missense	probably benign
R7425:1110002E22Rik	UTSW	3	137,771,456 (GRCm39)	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	137,772,629 (GRCm39)	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	137,774,044 (GRCm39)	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	137,771,887 (GRCm39)	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	137,774,516 (GRCm39)	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	137,775,362 (GRCm39)	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	137,774,156 (GRCm39)	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	137,773,543 (GRCm39)	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	137,772,211 (GRCm39)	missense	probably benign
R8434:1110002E22Rik	UTSW	3	137,773,021 (GRCm39)	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	137,774,586 (GRCm39)	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	137,771,798 (GRCm39)	missense	probably benign
R8808:1110002E22Rik	UTSW	3	137,775,874 (GRCm39)	missense	probably benign	0.01
R9026:1110002E22Rik	UTSW	3	137,770,909 (GRCm39)	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	137,775,677 (GRCm39)	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	137,772,389 (GRCm39)	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	137,772,464 (GRCm39)	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	137,771,839 (GRCm39)	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	137,771,183 (GRCm39)	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	137,772,048 (GRCm39)	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	137,772,766 (GRCm39)	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	137,774,267 (GRCm39)	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	137,771,126 (GRCm39)	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	137,770,894 (GRCm39)	missense	probably benign
X0003:1110002E22Rik	UTSW	3	137,774,857 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTCCCGGGCTATAAATGAG -3'
(R):5'- AAAGCCCACTTCAGAGAGCG -3'

Sequencing Primer
(F):5'- TTCCCGGGCTATAAATGAGCCTAG -3'
(R):5'- CCACTTCAGAGAGCGTGGTAG -3'

Posted On

2021-08-02