Mutagenetix > Incidental Mutation

Incidental Mutation 'R9797:Smu1'

734981

Institutional Source

Beutler Lab

Gene Symbol

Smu1

Ensembl Gene

ENSMUSG00000028409

Gene Name

smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)

Synonyms

SMU-1, 2600001O03Rik, 2610203K23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9797 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40736542-40757923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40739538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 424 (I424T)

Ref Sequence

ENSEMBL: ENSMUSP00000030117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030117] [ENSMUST00000030118] [ENSMUST00000164233]

AlphaFold

Q3UKJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030117
AA Change: I424T

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: I424T

Domain	Start	End	E-Value	Type
LisH	6	38	9.95e-7	SMART
CTLH	40	92	2.32e-7	SMART
WD40	202	242	9.02e-7	SMART
WD40	253	292	3.81e-5	SMART
WD40	295	335	5.26e-8	SMART
WD40	338	377	4.4e-10	SMART
WD40	380	426	1.03e1	SMART
WD40	428	470	2.97e0	SMART
WD40	473	512	9.52e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030118

SMART Domains

Protein: ENSMUSP00000030118
Gene: ENSMUSG00000028410

Domain	Start	End	E-Value	Type
DnaJ	5	60	4.2e-30	SMART
low complexity region	66	82	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
Pfam:DnaJ_CXXCXGXG	134	200	5.7e-16	PFAM
Pfam:CTDII	257	340	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164233

SMART Domains

Protein: ENSMUSP00000129730
Gene: ENSMUSG00000028410

Domain	Start	End	E-Value	Type
DnaJ	5	60	4.2e-30	SMART
low complexity region	66	82	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
Pfam:DnaJ_C	107	329	5.1e-35	PFAM
Pfam:DnaJ_CXXCXGXG	134	200	6e-17	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	A	G	5: 26,054,895 (GRCm39)	Y403C	probably benign	Het
Afdn	A	G	17: 14,066,562 (GRCm39)	I600V	probably benign	Het
Akr1b8	G	A	6: 34,333,278 (GRCm39)	E52K	possibly damaging	Het
Alas1	A	G	9: 106,113,842 (GRCm39)	S468P	probably damaging	Het
Atp13a5	T	C	16: 29,133,491 (GRCm39)	T432A	probably benign	Het
B3glct	A	T	5: 149,650,304 (GRCm39)	T136S	probably benign	Het
Bahcc1	A	T	11: 120,159,147 (GRCm39)	R125*	probably null	Het
Brat1	A	G	5: 140,704,273 (GRCm39)	E842G	probably damaging	Het
Cacna1b	A	G	2: 24,508,287 (GRCm39)	L1830S	probably damaging	Het
Cd109	A	G	9: 78,579,217 (GRCm39)	N620D	probably benign	Het
Cdhr1	T	A	14: 36,803,462 (GRCm39)	D538V	probably damaging	Het
Cfap74	G	A	4: 155,514,402 (GRCm39)	C546Y		Het
Colq	T	A	14: 31,250,777 (GRCm39)	R343*	probably null	Het
Dmxl2	T	C	9: 54,358,187 (GRCm39)	K330R	probably benign	Het
Dnah5	A	G	15: 28,233,316 (GRCm39)	K225R	probably benign	Het
Dnase1l3	C	T	14: 7,984,127 (GRCm38)	S95N	probably damaging	Het
Fyco1	C	A	9: 123,626,761 (GRCm39)	A1317S	probably benign	Het
Gm9195	G	A	14: 72,687,705 (GRCm39)	P1944L	probably damaging	Het
Gse1	T	G	8: 121,215,864 (GRCm39)	L4R	probably damaging	Het
Gstm1	T	C	3: 107,925,080 (GRCm39)	I4M	probably benign	Het
Ighv2-3	A	T	12: 113,574,945 (GRCm39)	I70K	possibly damaging	Het
Krt71	C	T	15: 101,645,069 (GRCm39)	R414H	probably damaging	Het
Mcmbp	T	C	7: 128,317,696 (GRCm39)	E183G	possibly damaging	Het
Med13l	T	C	5: 118,880,144 (GRCm39)	S1079P	probably damaging	Het
Megf11	A	G	9: 64,545,591 (GRCm39)	I125V	possibly damaging	Het
Mtmr4	T	A	11: 87,494,962 (GRCm39)	V418E	probably damaging	Het
Mttp	T	C	3: 137,814,725 (GRCm39)	T517A	probably damaging	Het
Mx1	A	G	16: 97,252,893 (GRCm39)	V409A	probably benign	Het
Olfml1	C	A	7: 107,167,069 (GRCm39)	H33N	probably benign	Het
Or13p8	A	C	4: 118,584,079 (GRCm39)	I212L	probably benign	Het
Or4k15b	A	T	14: 50,272,224 (GRCm39)	V212D	probably benign	Het
Or5w19	A	T	2: 87,698,478 (GRCm39)	I48F	possibly damaging	Het
Or6k2	T	C	1: 173,986,417 (GRCm39)	I26T	probably benign	Het
Or6n1	T	A	1: 173,917,356 (GRCm39)	I250N	possibly damaging	Het
Parp12	C	A	6: 39,067,185 (GRCm39)	V536F	probably damaging	Het
Phf11a	T	C	14: 59,514,862 (GRCm39)	E273G	possibly damaging	Het
Pramel27	A	G	4: 143,579,818 (GRCm39)	T468A	possibly damaging	Het
Psd3	A	G	8: 68,210,778 (GRCm39)	Y743H	probably damaging	Het
Rnf213	T	A	11: 119,333,365 (GRCm39)	I2859N		Het
Sec23a	A	T	12: 59,052,060 (GRCm39)	C88*	probably null	Het
Sepsecs	A	G	5: 52,826,239 (GRCm39)		probably null	Het
Slc35e3	G	A	10: 117,572,016 (GRCm39)	T293I	probably benign	Het
Slc49a3	G	T	5: 108,593,403 (GRCm39)	T145N	probably benign	Het
Spata16	T	A	3: 26,968,925 (GRCm39)	I435N	probably damaging	Het
Tasp1	A	G	2: 139,838,015 (GRCm39)	S156P	probably benign	Het
Tmem237	A	C	1: 59,144,735 (GRCm39)	S398A	probably damaging	Het
Ttc39c	T	A	18: 12,828,542 (GRCm39)	L234Q	probably damaging	Het
Ubxn11	C	A	4: 133,851,426 (GRCm39)	T22K	probably benign	Het
Uts2r	C	A	11: 121,051,518 (GRCm39)	S127R	probably damaging	Het
Vmn1r236	A	G	17: 21,506,969 (GRCm39)	D29G	probably benign	Het
Vmn2r87	A	G	10: 130,308,138 (GRCm39)	I700T	probably damaging	Het
Vmn2r87	T	A	10: 130,312,064 (GRCm39)	T517S	probably benign	Het
Vps13b	T	A	15: 35,675,022 (GRCm39)	V1714E	probably damaging	Het
Wrn	T	A	8: 33,758,950 (GRCm39)	I1003L	probably benign	Het
Ylpm1	A	G	12: 85,077,109 (GRCm39)	D1278G	possibly damaging	Het
Zfp1006	T	A	8: 129,946,534 (GRCm39)	H97L	probably benign	Het
Zfp955a	A	C	17: 33,461,888 (GRCm39)	H81Q	possibly damaging	Het
Zfyve26	T	C	12: 79,293,006 (GRCm39)	T2048A	probably damaging	Het

Other mutations in Smu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02992:Smu1	APN	4	40,739,550 (GRCm39)	missense	probably damaging	0.97
IGL03271:Smu1	APN	4	40,738,408 (GRCm39)	missense	probably benign	0.11
IGL03329:Smu1	APN	4	40,739,568 (GRCm39)	missense	possibly damaging	0.81
PIT4585001:Smu1	UTSW	4	40,739,623 (GRCm39)	missense	probably benign
R0172:Smu1	UTSW	4	40,738,439 (GRCm39)	missense	probably benign	0.00
R1109:Smu1	UTSW	4	40,755,722 (GRCm39)	missense	probably benign	0.12
R1552:Smu1	UTSW	4	40,748,570 (GRCm39)	missense	probably damaging	1.00
R1799:Smu1	UTSW	4	40,745,537 (GRCm39)	missense	probably damaging	1.00
R2093:Smu1	UTSW	4	40,738,438 (GRCm39)	missense	probably benign	0.12
R2143:Smu1	UTSW	4	40,744,073 (GRCm39)	missense	probably damaging	0.99
R3082:Smu1	UTSW	4	40,745,567 (GRCm39)	missense	probably damaging	1.00
R3083:Smu1	UTSW	4	40,745,567 (GRCm39)	missense	probably damaging	1.00
R3113:Smu1	UTSW	4	40,748,658 (GRCm39)	missense	probably benign	0.03
R3157:Smu1	UTSW	4	40,754,529 (GRCm39)	missense	possibly damaging	0.82
R3158:Smu1	UTSW	4	40,754,529 (GRCm39)	missense	possibly damaging	0.82
R3159:Smu1	UTSW	4	40,754,529 (GRCm39)	missense	possibly damaging	0.82
R3409:Smu1	UTSW	4	40,752,008 (GRCm39)	missense	probably benign
R3411:Smu1	UTSW	4	40,752,008 (GRCm39)	missense	probably benign
R4581:Smu1	UTSW	4	40,737,401 (GRCm39)	splice site	probably null
R5106:Smu1	UTSW	4	40,743,104 (GRCm39)	missense	possibly damaging	0.82
R7747:Smu1	UTSW	4	40,748,600 (GRCm39)	missense	probably benign	0.44
R9029:Smu1	UTSW	4	40,738,361 (GRCm39)	missense	probably damaging	1.00
R9069:Smu1	UTSW	4	40,745,558 (GRCm39)	missense	probably damaging	1.00
R9537:Smu1	UTSW	4	40,755,671 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTATCTACAGGAGGCTCAATG -3'
(R):5'- TCAAGCAGCTTTATTTGAGCC -3'

Sequencing Primer
(F):5'- TCACTGAGTTTGATGGAAGACC -3'
(R):5'- GCAGCTTTATTTGAGCCAATTTAAC -3'

Posted On

2022-11-14