Mutagenetix > Incidental Mutation

Incidental Mutation 'R9696:4930407I10Rik'

729324

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81943352-81950739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81949697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1198 (N1198S)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089178] [ENSMUST00000100396] [ENSMUST00000229119]

AlphaFold

D3Z5T8

Predicted Effect

probably benign
Transcript: ENSMUST00000089178

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
SCOP:d1gw5a_	123	498	1e-3	SMART
low complexity region	956	966	N/A	INTRINSIC
low complexity region	1025	1045	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100396
AA Change: N1198S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: N1198S

Domain	Start	End	E-Value	Type
Pfam:DUF4727	25	234	1.1e-109	PFAM
internal_repeat_1	321	406	9.89e-8	PROSPERO
low complexity region	453	465	N/A	INTRINSIC
internal_repeat_2	593	707	6.03e-6	PROSPERO
low complexity region	735	752	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
internal_repeat_2	842	958	6.03e-6	PROSPERO
internal_repeat_1	876	962	9.89e-8	PROSPERO
low complexity region	985	996	N/A	INTRINSIC
low complexity region	1117	1133	N/A	INTRINSIC
low complexity region	1143	1156	N/A	INTRINSIC
low complexity region	1199	1208	N/A	INTRINSIC
low complexity region	1259	1270	N/A	INTRINSIC
low complexity region	1282	1296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229119

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,691,256 (GRCm39)	D105G	possibly damaging	Het
Abca14	A	T	7: 119,888,734 (GRCm39)	I1227F	possibly damaging	Het
Abhd10	T	C	16: 45,552,042 (GRCm39)	D277G	probably damaging	Het
Adam20	A	G	8: 41,249,633 (GRCm39)	N581S	probably damaging	Het
Apbb1ip	A	T	2: 22,725,989 (GRCm39)	T254S	probably benign	Het
Arap3	T	C	18: 38,112,905 (GRCm39)	T1102A	probably damaging	Het
Asb16	A	T	11: 102,159,766 (GRCm39)	R40W	probably damaging	Het
Birc6	T	A	17: 74,947,292 (GRCm39)	S3019T	probably damaging	Het
Btbd18	T	A	2: 84,497,854 (GRCm39)	C497*	probably null	Het
Cacna1h	T	C	17: 25,602,215 (GRCm39)	M1542V	possibly damaging	Het
Ccdc8	T	G	7: 16,730,087 (GRCm39)	S525R	unknown	Het
Ch25h	G	A	19: 34,451,947 (GRCm39)	R194W	probably damaging	Het
Ciapin1	C	A	8: 95,555,065 (GRCm39)	L130F	probably damaging	Het
Cnfn	G	T	7: 25,067,515 (GRCm39)	T54N	probably damaging	Het
Cop1	A	T	1: 159,076,783 (GRCm39)	I195F	probably damaging	Het
Daam1	A	G	12: 71,991,147 (GRCm39)	R254G	unknown	Het
Dcaf13	T	C	15: 39,001,496 (GRCm39)	M268T	possibly damaging	Het
Disp3	C	A	4: 148,345,611 (GRCm39)	V410L	probably damaging	Het
Dus4l	A	T	12: 31,696,647 (GRCm39)	I110K	probably damaging	Het
Endov	C	T	11: 119,398,048 (GRCm39)	P271L	probably damaging	Het
Epha2	A	G	4: 141,047,834 (GRCm39)	I539V	probably benign	Het
Ercc4	A	T	16: 12,950,810 (GRCm39)	I635L	probably damaging	Het
Exosc10	A	G	4: 148,649,704 (GRCm39)	D378G	probably damaging	Het
Fmnl1	A	G	11: 103,086,297 (GRCm39)	D804G	unknown	Het
Gm11983	T	A	11: 6,787,020 (GRCm39)	I36F	unknown	Het
Gm11992	A	T	11: 9,006,438 (GRCm39)	I123L	probably benign	Het
Gm19965	T	C	1: 116,730,838 (GRCm39)		probably benign	Het
Gm19965	A	G	1: 116,749,210 (GRCm39)	D297G		Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gse1	T	C	8: 120,956,280 (GRCm39)	V257A	unknown	Het
Haus1	A	T	18: 77,847,202 (GRCm39)	S225T	probably benign	Het
Hgf	A	G	5: 16,777,534 (GRCm39)	Y177C	probably damaging	Het
Insig1	T	C	5: 28,279,546 (GRCm39)	W184R	probably damaging	Het
Krt5	A	T	15: 101,616,141 (GRCm39)	S491R	unknown	Het
Lcn5	A	G	2: 25,550,142 (GRCm39)	I110V	probably benign	Het
Lin9	A	T	1: 180,496,733 (GRCm39)	S341C	possibly damaging	Het
Magi2	C	T	5: 20,670,864 (GRCm39)	H403Y	probably benign	Het
Mapk1ip1l	C	T	14: 47,548,340 (GRCm39)	P163S	probably damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mdp1	A	G	14: 55,896,704 (GRCm39)	V119A	probably benign	Het
Me1	A	G	9: 86,469,047 (GRCm39)	I506T	probably damaging	Het
Med1	A	G	11: 98,061,772 (GRCm39)		probably null	Het
Med25	T	A	7: 44,529,524 (GRCm39)	Q656L	probably benign	Het
Memo1	A	C	17: 74,524,041 (GRCm39)	I213S	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mpi	T	C	9: 57,452,539 (GRCm39)	D331G	probably benign	Het
Muc4	T	C	16: 32,574,712 (GRCm39)	I1054T	probably benign	Het
Nat10	T	C	2: 103,556,040 (GRCm39)	E927G	possibly damaging	Het
Nlrp9a	T	C	7: 26,275,033 (GRCm39)	L930P	unknown	Het
Nt5c3b	A	T	11: 100,323,811 (GRCm39)	I167N	probably damaging	Het
Ogdh	T	C	11: 6,289,209 (GRCm39)	S308P	probably damaging	Het
Or2y1b	A	G	11: 49,208,390 (GRCm39)	I6V	probably benign	Het
Or4c108	T	G	2: 88,803,615 (GRCm39)	I207L	probably benign	Het
Or52e5	T	A	7: 104,719,283 (GRCm39)	V203D	probably damaging	Het
Or8b9	G	A	9: 37,766,671 (GRCm39)	E186K	probably benign	Het
Parl	A	G	16: 20,105,690 (GRCm39)	V244A	probably benign	Het
Parp14	G	T	16: 35,661,252 (GRCm39)	D1565E	probably damaging	Het
Parp14	T	C	16: 35,661,251 (GRCm39)	K1566E	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,606 (GRCm39)	I312K	possibly damaging	Het
Pcnp	A	T	16: 55,844,867 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Rab10	T	A	12: 3,306,947 (GRCm39)	M83L	probably benign	Het
Rabep1	A	G	11: 70,814,029 (GRCm39)	S616G	probably benign	Het
Rnf213	G	A	11: 119,359,806 (GRCm39)	V4400M		Het
Samd9l	T	A	6: 3,375,078 (GRCm39)	I728F	possibly damaging	Het
Scaf4	T	A	16: 90,044,122 (GRCm39)	D620V	unknown	Het
Scnn1b	A	T	7: 121,498,462 (GRCm39)	M1L	probably damaging	Het
Sec23b	T	A	2: 144,428,343 (GRCm39)	M652K	probably benign	Het
Selenoi	T	C	5: 30,453,413 (GRCm39)	F44L	probably benign	Het
Slc36a3	A	T	11: 55,026,161 (GRCm39)	V219E	possibly damaging	Het
Sncaip	A	T	18: 53,038,915 (GRCm39)	Q543L	probably damaging	Het
Stmnd1	A	G	13: 46,443,224 (GRCm39)	I119V	probably damaging	Het
Strn3	T	A	12: 51,676,286 (GRCm39)	E414D	probably damaging	Het
Syne1	T	A	10: 5,297,847 (GRCm39)	H1150L	probably benign	Het
Tdrd7	A	G	4: 46,016,888 (GRCm39)	N676S	possibly damaging	Het
Tgs1	A	T	4: 3,575,071 (GRCm39)	I16F	possibly damaging	Het
Thnsl2	T	G	6: 71,108,930 (GRCm39)	T294P	possibly damaging	Het
Tmem156	A	G	5: 65,231,147 (GRCm39)	I241T	possibly damaging	Het
Unc13a	A	T	8: 72,082,197 (GRCm39)	M1689K	possibly damaging	Het
Uri1	T	C	7: 37,664,738 (GRCm39)	D318G	probably benign	Het
Vmn2r86	T	A	10: 130,285,702 (GRCm39)	Q491L	possibly damaging	Het
Vps13b	C	A	15: 35,675,033 (GRCm39)	Q1718K	possibly damaging	Het

Other mutations in 4930407I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:4930407I10Rik	APN	15	81,950,581 (GRCm39)	missense	probably benign	0.00
IGL02135:4930407I10Rik	APN	15	81,949,205 (GRCm39)	missense	possibly damaging	0.63
IGL02367:4930407I10Rik	APN	15	81,949,748 (GRCm39)	missense	probably benign	0.00
IGL02626:4930407I10Rik	APN	15	81,949,810 (GRCm39)	missense	probably damaging	0.99
IGL02885:4930407I10Rik	APN	15	81,948,152 (GRCm39)	missense	probably benign	0.36
IGL03199:4930407I10Rik	APN	15	81,946,556 (GRCm39)	missense	possibly damaging	0.65
R0062:4930407I10Rik	UTSW	15	81,950,504 (GRCm39)	missense	probably damaging	0.98
R0062:4930407I10Rik	UTSW	15	81,947,267 (GRCm39)	missense	probably benign	0.00
R0086:4930407I10Rik	UTSW	15	81,946,802 (GRCm39)	missense	probably benign	0.11
R0578:4930407I10Rik	UTSW	15	81,943,556 (GRCm39)	missense	possibly damaging	0.49
R1130:4930407I10Rik	UTSW	15	81,943,561 (GRCm39)	missense	probably benign
R1218:4930407I10Rik	UTSW	15	81,948,353 (GRCm39)	missense	probably benign	0.04
R1942:4930407I10Rik	UTSW	15	81,949,625 (GRCm39)	missense	probably damaging	0.98
R2380:4930407I10Rik	UTSW	15	81,949,036 (GRCm39)	missense	possibly damaging	0.92
R3945:4930407I10Rik	UTSW	15	81,949,601 (GRCm39)	missense	probably damaging	1.00
R4096:4930407I10Rik	UTSW	15	81,946,406 (GRCm39)	missense	probably benign	0.07
R4259:4930407I10Rik	UTSW	15	81,947,927 (GRCm39)	missense	possibly damaging	0.89
R4261:4930407I10Rik	UTSW	15	81,947,927 (GRCm39)	missense	possibly damaging	0.89
R4805:4930407I10Rik	UTSW	15	81,950,628 (GRCm39)	nonsense	probably null
R4992:4930407I10Rik	UTSW	15	81,948,203 (GRCm39)	missense	possibly damaging	0.60
R5094:4930407I10Rik	UTSW	15	81,946,883 (GRCm39)	missense	possibly damaging	0.72
R5161:4930407I10Rik	UTSW	15	81,947,542 (GRCm39)	nonsense	probably null
R5201:4930407I10Rik	UTSW	15	81,946,745 (GRCm39)	missense	probably benign	0.26
R5305:4930407I10Rik	UTSW	15	81,943,420 (GRCm39)	missense	possibly damaging	0.52
R5588:4930407I10Rik	UTSW	15	81,949,417 (GRCm39)	missense	possibly damaging	0.83
R5844:4930407I10Rik	UTSW	15	81,950,065 (GRCm39)	missense	probably benign	0.33
R6007:4930407I10Rik	UTSW	15	81,946,940 (GRCm39)	missense	probably benign	0.13
R6157:4930407I10Rik	UTSW	15	81,947,617 (GRCm39)	missense	possibly damaging	0.67
R6188:4930407I10Rik	UTSW	15	81,943,471 (GRCm39)	missense	probably benign	0.01
R6350:4930407I10Rik	UTSW	15	81,947,764 (GRCm39)	missense	possibly damaging	0.55
R6408:4930407I10Rik	UTSW	15	81,949,307 (GRCm39)	missense	possibly damaging	0.77
R6805:4930407I10Rik	UTSW	15	81,946,744 (GRCm39)	missense	possibly damaging	0.95
R6911:4930407I10Rik	UTSW	15	81,948,068 (GRCm39)	missense	probably benign	0.01
R6962:4930407I10Rik	UTSW	15	81,949,150 (GRCm39)	missense	probably benign	0.14
R7446:4930407I10Rik	UTSW	15	81,950,441 (GRCm39)	missense	probably benign
R7492:4930407I10Rik	UTSW	15	81,948,560 (GRCm39)	missense	possibly damaging	0.63
R7699:4930407I10Rik	UTSW	15	81,948,306 (GRCm39)	missense	probably benign	0.04
R7700:4930407I10Rik	UTSW	15	81,948,306 (GRCm39)	missense	probably benign	0.04
R7963:4930407I10Rik	UTSW	15	81,948,137 (GRCm39)	missense	possibly damaging	0.79
R8215:4930407I10Rik	UTSW	15	81,949,301 (GRCm39)	missense	probably benign	0.01
R8257:4930407I10Rik	UTSW	15	81,950,153 (GRCm39)	missense	probably benign	0.22
R8311:4930407I10Rik	UTSW	15	81,947,440 (GRCm39)	missense	possibly damaging	0.77
R8436:4930407I10Rik	UTSW	15	81,949,936 (GRCm39)	missense	possibly damaging	0.48
R8530:4930407I10Rik	UTSW	15	81,949,587 (GRCm39)	missense	probably damaging	0.99
R8531:4930407I10Rik	UTSW	15	81,950,622 (GRCm39)	missense	probably benign	0.02
R8886:4930407I10Rik	UTSW	15	81,950,051 (GRCm39)	missense	probably damaging	0.99
R9109:4930407I10Rik	UTSW	15	81,947,615 (GRCm39)	missense	probably benign	0.00
R9298:4930407I10Rik	UTSW	15	81,947,615 (GRCm39)	missense	probably benign	0.00
R9424:4930407I10Rik	UTSW	15	81,947,843 (GRCm39)	missense	probably benign	0.00
R9576:4930407I10Rik	UTSW	15	81,947,843 (GRCm39)	missense	probably benign	0.00
R9654:4930407I10Rik	UTSW	15	81,948,916 (GRCm39)	missense	possibly damaging	0.95
R9710:4930407I10Rik	UTSW	15	81,946,852 (GRCm39)	missense	probably benign
RF004:4930407I10Rik	UTSW	15	81,943,550 (GRCm39)	missense	possibly damaging	0.82
X0011:4930407I10Rik	UTSW	15	81,943,486 (GRCm39)	missense	probably damaging	1.00
X0026:4930407I10Rik	UTSW	15	81,947,512 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATGCGTACCAGTAGCTCTC -3'
(R):5'- CTTAGGTGGAATAGAGCTGCCC -3'

Sequencing Primer
(F):5'- TTCACAAATGGCCAGCTCTC -3'
(R):5'- AATAGAGCTGCCCGTTGG -3'

Posted On

2022-10-06