Mutagenetix > Incidental Mutation

Incidental Mutation 'R8680:Scmh1'

661658

Institutional Source

Beutler Lab

Gene Symbol

Scmh1

Ensembl Gene

ENSMUSG00000000085

Gene Name

sex comb on midleg homolog 1

Synonyms

Scml3

MMRRC Submission

068535-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120262478-120387383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120319331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 19 (S19T)

Ref Sequence

ENSEMBL: ENSMUSP00000000087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000087] [ENSMUST00000064991] [ENSMUST00000106298] [ENSMUST00000106301] [ENSMUST00000132116]

AlphaFold

Q8K214

Predicted Effect

probably benign
Transcript: ENSMUST00000000087
AA Change: S19T

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

SMART Domains

Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: S19T

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.3e-50	PFAM
SAM	594	662	1.8e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064991
AA Change: S19T

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

SMART Domains

Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: S19T

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	357	465	5.8e-39	PFAM
SAM	594	662	1.57e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106298
AA Change: S19T

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

SMART Domains

Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: S19T

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.3e-50	PFAM
SAM	594	662	1.8e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106301
AA Change: S19T

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

SMART Domains

Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: S19T

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.7e-50	PFAM
SAM	594	662	1.57e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132116
AA Change: S19T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

99% (78/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for an allele lacking the SPM domain exhibit partial penetrance of posterior vertebral transformations and male infertility with azoospermia and arrest of spermatogenesis. Mice homozygous for a knock-out allele exhibit abnormal hematopoiesis but normal fertility and skeleton. [provided by MGI curators]

Allele List at MGI

All alleles(67) : Targeted(4) Gene trapped(63)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,551 (GRCm39)	Y195C	probably damaging	Het
Abcb1a	T	A	5: 8,735,371 (GRCm39)	F159L	probably damaging	Het
Adam6b	A	G	12: 113,454,371 (GRCm39)	N396S	probably benign	Het
Adamts15	T	C	9: 30,823,055 (GRCm39)	M338V	possibly damaging	Het
Adamts7	T	A	9: 90,077,321 (GRCm39)	H1329Q	probably damaging	Het
Aim2	C	T	1: 173,289,786 (GRCm39)	P243L	probably damaging	Het
Ankdd1a	T	C	9: 65,412,418 (GRCm39)	D311G	probably damaging	Het
Apon	A	T	10: 128,090,428 (GRCm39)	E35D	probably benign	Het
Atp1a4	T	C	1: 172,078,566 (GRCm39)	D224G	probably damaging	Het
Atp6v0a1	T	A	11: 100,953,229 (GRCm39)	*839R	probably null	Het
Bco2	A	G	9: 50,461,878 (GRCm39)	L42P	probably damaging	Het
Bicral	T	A	17: 47,141,873 (GRCm39)		probably benign	Het
Ccna1	T	C	3: 54,955,878 (GRCm39)	Q306R	probably benign	Het
Cep152	G	T	2: 125,406,131 (GRCm39)	S1467*	probably null	Het
Cfap44	T	A	16: 44,225,085 (GRCm39)	V110E	probably damaging	Het
Clip2	G	A	5: 134,531,462 (GRCm39)	A781V	probably benign	Het
Cps1	A	T	1: 67,243,772 (GRCm39)	I1083F	probably damaging	Het
Cux1	A	G	5: 136,336,710 (GRCm39)	V934A	possibly damaging	Het
Depdc5	T	C	5: 33,101,382 (GRCm39)	F891L	possibly damaging	Het
Dnai7	T	A	6: 145,127,542 (GRCm39)	I456F	probably benign	Het
Dnajc13	A	G	9: 104,057,338 (GRCm39)	V1554A	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eif6	T	A	2: 155,664,772 (GRCm39)	D238V	probably benign	Het
Fat2	G	A	11: 55,144,692 (GRCm39)	L4061F	probably benign	Het
Fat3	T	C	9: 15,908,703 (GRCm39)	D2433G	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,174,039 (GRCm39)	E790G	probably damaging	Het
Ighv1-67	A	T	12: 115,567,861 (GRCm39)	V17E	probably damaging	Het
Klra9	T	A	6: 130,165,639 (GRCm39)	R125S	probably damaging	Het
Leo1	T	C	9: 75,353,277 (GRCm39)		probably null	Het
Map2	G	T	1: 66,460,872 (GRCm39)	R1556L	probably damaging	Het
Megf8	A	G	7: 25,059,166 (GRCm39)		probably null	Het
Meikin	T	C	11: 54,317,477 (GRCm39)	I426T	possibly damaging	Het
Muc16	A	T	9: 18,556,015 (GRCm39)	V3426E	unknown	Het
Or4a15	T	A	2: 89,193,065 (GRCm39)	Y236F	probably benign	Het
Or51af1	G	A	7: 103,142,029 (GRCm39)	L19F	probably damaging	Het
Or52n2c	A	G	7: 104,574,620 (GRCm39)	L117P	probably damaging	Het
Or7e168	T	G	9: 19,720,105 (GRCm39)	S164A	possibly damaging	Het
Or8k25	T	C	2: 86,243,935 (GRCm39)	I154V	probably benign	Het
Or9s13	T	C	1: 92,547,643 (GRCm39)	V5A	probably benign	Het
Otogl	A	G	10: 107,747,936 (GRCm39)		probably null	Het
Palm3	T	C	8: 84,756,504 (GRCm39)	L672P	probably damaging	Het
Perm1	A	G	4: 156,302,091 (GRCm39)	T212A	probably benign	Het
Poc1a	T	C	9: 106,226,960 (GRCm39)	M400T	probably benign	Het
Pou6f2	T	A	13: 18,414,196 (GRCm39)	Q193L	unknown	Het
Ppl	C	T	16: 4,905,300 (GRCm39)	R1665H	probably benign	Het
Ppp4r3b	T	C	11: 29,123,449 (GRCm39)		probably null	Het
Ptger1	T	C	8: 84,394,654 (GRCm39)	S44P	probably damaging	Het
Pzp	T	C	6: 128,473,009 (GRCm39)	T787A	probably benign	Het
Rab44	A	T	17: 29,358,642 (GRCm39)	R277*	probably null	Het
Rasgef1a	T	A	6: 118,064,088 (GRCm39)	I334K	probably damaging	Het
Rfx1	T	C	8: 84,818,084 (GRCm39)	V554A	possibly damaging	Het
Ripk1	T	A	13: 34,214,032 (GRCm39)	I518K	possibly damaging	Het
Rpl22	A	G	4: 152,416,763 (GRCm39)	Y90C	probably damaging	Het
Rps27a	C	A	11: 29,495,998 (GRCm39)	R118L	probably benign	Het
Scn10a	C	T	9: 119,520,509 (GRCm39)		probably null	Het
Sema4c	A	T	1: 36,589,867 (GRCm39)	S496T	probably benign	Het
Serpina3i	T	C	12: 104,231,387 (GRCm39)	V8A	possibly damaging	Het
Sis	G	A	3: 72,867,628 (GRCm39)	T139M	probably damaging	Het
Skic3	A	T	13: 76,303,587 (GRCm39)	H1227L	probably benign	Het
Slc45a2	T	A	15: 11,000,972 (GRCm39)	S24T	probably benign	Het
Slc5a11	A	G	7: 122,866,975 (GRCm39)	I423M	probably benign	Het
Slc7a10	G	A	7: 34,885,997 (GRCm39)	G31S	probably benign	Het
Sowahc	A	G	10: 59,059,001 (GRCm39)	N379S	probably benign	Het
Stat5a	T	C	11: 100,774,714 (GRCm39)	M741T	unknown	Het
Tcf15	T	C	2: 151,986,020 (GRCm39)	S159P	probably benign	Het
Tdrd5	C	A	1: 156,098,788 (GRCm39)	R669L	possibly damaging	Het
Tln1	T	C	4: 43,553,041 (GRCm39)	E350G	possibly damaging	Het
Trim12c	T	G	7: 103,997,271 (GRCm39)	N95T		Het
Urb1	T	C	16: 90,571,513 (GRCm39)	T1099A	probably benign	Het
Vmn1r44	T	A	6: 89,870,578 (GRCm39)	V108D	probably damaging	Het
Vmn2r65	A	G	7: 84,589,388 (GRCm39)	Y843H	probably benign	Het
Vmn2r68	A	G	7: 84,871,321 (GRCm39)	I654T	possibly damaging	Het
Vps13a	T	C	19: 16,623,270 (GRCm39)	N2797S	possibly damaging	Het
Wscd2	T	C	5: 113,712,235 (GRCm39)	Y385H	probably damaging	Het
Xdh	T	C	17: 74,229,500 (GRCm39)	I318V	probably benign	Het
Xrcc3	T	A	12: 111,774,313 (GRCm39)	K172M	probably damaging	Het

Other mutations in Scmh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Scmh1	APN	4	120,387,097 (GRCm39)	utr 3 prime	probably benign
IGL01962:Scmh1	APN	4	120,340,781 (GRCm39)	splice site	probably benign
IGL02013:Scmh1	APN	4	120,340,929 (GRCm39)	missense	possibly damaging	0.77
IGL02081:Scmh1	APN	4	120,372,275 (GRCm39)	missense	probably damaging	1.00
IGL02223:Scmh1	APN	4	120,372,416 (GRCm39)	missense	probably benign	0.26
IGL02530:Scmh1	APN	4	120,385,343 (GRCm39)	splice site	probably benign
IGL02887:Scmh1	APN	4	120,325,586 (GRCm39)	missense	probably damaging	1.00
P0024:Scmh1	UTSW	4	120,335,231 (GRCm39)	missense	probably damaging	1.00
R0164:Scmh1	UTSW	4	120,387,062 (GRCm39)	unclassified	probably benign
R0164:Scmh1	UTSW	4	120,387,062 (GRCm39)	unclassified	probably benign
R0200:Scmh1	UTSW	4	120,341,028 (GRCm39)	missense	probably damaging	0.99
R1598:Scmh1	UTSW	4	120,372,327 (GRCm39)	missense	possibly damaging	0.83
R1624:Scmh1	UTSW	4	120,386,425 (GRCm39)	missense	probably damaging	1.00
R2276:Scmh1	UTSW	4	120,340,869 (GRCm39)	missense	probably damaging	1.00
R3734:Scmh1	UTSW	4	120,335,277 (GRCm39)	missense	probably damaging	1.00
R4167:Scmh1	UTSW	4	120,386,473 (GRCm39)	intron	probably benign
R4570:Scmh1	UTSW	4	120,385,495 (GRCm39)	missense	probably damaging	1.00
R5458:Scmh1	UTSW	4	120,362,478 (GRCm39)	unclassified	probably benign
R5564:Scmh1	UTSW	4	120,325,575 (GRCm39)	missense	probably damaging	1.00
R5700:Scmh1	UTSW	4	120,374,143 (GRCm39)	missense	probably benign	0.10
R5991:Scmh1	UTSW	4	120,379,817 (GRCm39)	missense	probably benign
R5999:Scmh1	UTSW	4	120,362,712 (GRCm39)	critical splice donor site	probably null
R7097:Scmh1	UTSW	4	120,382,252 (GRCm39)	missense	probably benign
R7432:Scmh1	UTSW	4	120,386,353 (GRCm39)	missense	probably damaging	1.00
R8327:Scmh1	UTSW	4	120,379,699 (GRCm39)	missense	probably benign
R8745:Scmh1	UTSW	4	120,362,559 (GRCm39)	nonsense	probably null
R9018:Scmh1	UTSW	4	120,362,514 (GRCm39)	missense	probably benign	0.01
R9141:Scmh1	UTSW	4	120,362,556 (GRCm39)	missense	probably benign	0.00
R9283:Scmh1	UTSW	4	120,319,337 (GRCm39)	missense	probably benign
R9426:Scmh1	UTSW	4	120,362,556 (GRCm39)	missense	probably benign	0.00
R9454:Scmh1	UTSW	4	120,372,276 (GRCm39)	missense	probably benign
R9487:Scmh1	UTSW	4	120,320,284 (GRCm39)	nonsense	probably null
R9617:Scmh1	UTSW	4	120,340,827 (GRCm39)	missense	probably damaging	1.00
R9775:Scmh1	UTSW	4	120,340,820 (GRCm39)	missense	probably benign
Z1176:Scmh1	UTSW	4	120,335,239 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGACAGAGTGCGAAGTCTTGG -3'
(R):5'- GCCTTAAGTATCTCAAAGGGTAAAG -3'

Sequencing Primer
(F):5'- GCGAAGTCTTGGCATCGTC -3'
(R):5'- TCTCAAAGGGTAAAGAAGAGTGAAC -3'

Posted On

2021-03-08